Wendy Chung

Publications

1. Interpretable fine-tuned large language models facilitate making genetic test decisions for rare diseases. NPJ Digit Med. 2026 May 19. View Abstract
2. Rare KDR Variants Define a Distinct Genetic Contribution to Congenital Heart Disease. Circ Genom Precis Med. 2026 Apr 22; e005659. View Abstract
3. Multiomics approaches to cardiovascular disease: technological innovations and clinical translation. Am J Physiol Heart Circ Physiol. 2026 Jun 01; 330(6):H1752-H1784. View Abstract
4. Steroids, stress, and body mass index interact to accelerate female pubertal development. J Clin Endocrinol Metab. 2026 Apr 07. View Abstract
5. Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder. Am J Hum Genet. 2026 May 07; 113(5):1124. View Abstract
6. Exploring immediate responses to APOEe4/e4 genotype and Alzheimer's disease risk disclosure in Latinos. J Alzheimers Dis. 2026 May; 111(2):734-745. View Abstract
7. Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities. Clin Genet. 2026 Jul; 110(1):64-72. View Abstract
8. Loss-of-function variants in MARK2 cause neurodevelopmental disorder. HGG Adv. 2026 Mar 30; 7(3):100600. View Abstract
9. Catatonia in Autism and Neurodevelopmental Disorders: A Scoping Review for Advancing Identification, Practice, and Research. J Am Acad Child Adolesc Psychiatry. 2026 Mar 25. View Abstract
10. Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study. Am J Hum Genet. 2026 04 02; 113(4):678-691. View Abstract
11. The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments. Am J Hum Genet. 2026 04 02; 113(4):664-677. View Abstract
12. Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome). Clin Genet. 2026 Mar 20. View Abstract
13. Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension. J Med Genet. 2026 Mar 20; 63(4):225-234. View Abstract
14. Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement. Genet Med. 2026 May; 28(5):102551. View Abstract
15. Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification. medRxiv. 2026 Mar 06. View Abstract
16. Mechanical compression causes lung hypoplasia in congenital diaphragmatic hernia with GATA4 genetic variants. Am J Physiol Lung Cell Mol Physiol. 2026 Apr 01; 330(4):L457-L475. View Abstract
17. Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial. J Am Heart Assoc. 2026 Mar 17; 15(6):e046959. View Abstract
18. Interpretable Fine-tuned Large Language Models Facilitate Making Genetic Test Decisions for Rare Diseases. medRxiv. 2026 Mar 02. View Abstract
19. Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice. bioRxiv. 2026 Feb 26. View Abstract
20. Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities. Am J Hum Genet. 2026 Mar 05; 113(3):548-561. View Abstract
21. Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. HGG Adv. 2026 Apr 09; 7(2):100582. View Abstract
22. Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits. Brain. 2026 Feb 17. View Abstract
23. Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease. Commun Med (Lond). 2026 Feb 06; 6(1). View Abstract
24. Dysregulated TGFß-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis. bioRxiv. 2026 Jan 20. View Abstract
25. MYRF controls mesothelium specification, signaling, and plasticity in lung development. Dev Cell. 2026 Mar 11; 61(3):536-552.e4. View Abstract
26. Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro. Nat Commun. 2026 Jan 09; 17(1):1109. View Abstract
27. Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. Nat Cardiovasc Res. 2026 Jan; 5(1):51-66. View Abstract
28. Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies. Res Sq. 2025 Dec 30. View Abstract
29. Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis. Res Sq. 2025 Dec 30. View Abstract
30. Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review. Am J Med Genet A. 2026 05; 200(5):993-1003. View Abstract
31. Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing. Cancers (Basel). 2025 Dec 09; 17(24). View Abstract
32. Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study. HGG Adv. 2026 Jan 15; 7(1):100554. View Abstract
33. The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies. Prenat Diagn. 2026 05; 46(5-6):727-736. View Abstract
34. Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO). Bone. 2026 Mar; 204:117744. View Abstract
35. Returning aggregate research results to participants: a scoping review of current practices, preferences and challenges. BMJ Open. 2025 Nov 29; 15(11):e107270. View Abstract
36. A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability. Am J Med Genet A. 2026 04; 200(4):899-905. View Abstract
37. Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro. Mol Psychiatry. 2026 Apr; 31(4):2178-2190. View Abstract
38. STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling. iScience. 2025 Dec 19; 28(12):114195. View Abstract
39. Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome. Circ Genom Precis Med. 2025 Dec; 18(6):e005231. View Abstract
40. Impact of genomic sequencing information on physicians' treatment recommendations for children with congenital heart disease. Genet Med Open. 2025; 3:103470. View Abstract
41. Digital health technology use in clinical trials of rare diseases: a systematic review. Commun Med (Lond). 2025 Oct 31; 5(1):449. View Abstract
42. BBB-penetrant tyrosine kinase inhibitor plus intracranial radiotherapy vs BBB-penetrant TKI alone in Asians with EGFR-mutated lung adenocarcinoma and brain metastases. J Chin Med Assoc. 2025 Dec 01; 88(12):933-940. View Abstract
43. Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing. Genet Med. 2026 Jan; 28(1):101618. View Abstract
44. Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study. JAMIA Open. 2025 Oct; 8(5):ooaf113. View Abstract
45. Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder. Am J Hum Genet. 2025 11 06; 112(11):2643-2664. View Abstract
46. Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies. Res Sq. 2025 Oct 17. View Abstract
47. A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report. Case Rep Genet. 2025; 2025:4041217. View Abstract
48. Toward Same-Day Genome Sequencing in the Critical Care Setting. N Engl J Med. 2025 Nov 20; 393(20):2063-2065. View Abstract
49. Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy. J Clin Invest. 2025 Dec 01; 135(23). View Abstract
50. SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder. Nat Commun. 2025 Oct 10; 16(1):9021. View Abstract
51. Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism. Ann Neurol. 2025 11; 98(5):932-950. View Abstract
52. Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome. J Clin Endocrinol Metab. 2025 Sep 16; 110(10):e3271-e3282. View Abstract
53. LONP1 Variants Are Associated With Clinically Diverse Phenotypes. Clin Genet. 2026 Mar; 109(3):437-457. View Abstract
54. Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities. J Community Genet. 2025 Dec; 16(6):799-812. View Abstract
55. SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons. Brain. 2025 Sep 03; 148(9):3300-3313. View Abstract
56. Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. Am J Hum Genet. 2025 10 02; 112(10):2422-2439. View Abstract
57. Germline and somatic variants in DNMT3A and other clonal haematopoiesis of indeterminate potential genes contribute to pulmonary arterial hypertension. Eur Heart J. 2025 Aug 29. View Abstract
58. Machine learning-based penetrance of genetic variants. Science. 2025 Aug 28; 389(6763):eadm7066. View Abstract
59. Gamma knife radiosurgery for breast cancer brain metastasis: survival outcomes, prognotic factors, and the role of repeat treatment. J Neurooncol. 2025 Dec; 175(3):1401-1413. View Abstract
60. Mitochondrial Lon Peptidase 1 Controls Diaphragm and Lung Development in a Context-Dependent Manner. J Respir Biol Transl Med. 2025; 2(3). View Abstract
61. Clinical Integration of NIR-II Fluorescence Imaging for Cancer Surgery: A Translational Evaluation of Preclinical and Intraoperative Systems. Cancers (Basel). 2025 Aug 17; 17(16). View Abstract
62. RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation. Res Sq. 2025 Aug 11. View Abstract
63. A Pilot Meta-Research on Evolving Evidence Behind Genetic Variant (Re)Classification. Stud Health Technol Inform. 2025 Aug 07; 329:108-112. View Abstract
64. PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context. Nat Commun. 2025 Aug 05; 16(1):7189. View Abstract
65. Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy. Brain. 2025 Aug 01; 148(8):2797-2811. View Abstract
66. Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder. Clin Genet. 2026 Feb; 109(2):233-242. View Abstract
67. Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery. Nat Commun. 2025 Jul 10; 16(1):6365. View Abstract
68. Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar. Hum Mutat. 2025; 2025:2475635. View Abstract
69. Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease. HGG Adv. 2025 Oct 09; 6(4):100478. View Abstract
70. A Pilot Meta-research on Evolving Evidence Behind Genetic Variant (Re)Classification. medRxiv. 2025 Jul 03. View Abstract
71. ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025 Aug; 27(8):101454. View Abstract
72. Using large-scale population-based data to improve disease risk assessment of clinical variants. Nat Genet. 2025 Jul; 57(7):1588-1597. View Abstract
73. Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study. medRxiv. 2025 May 23. View Abstract
74. Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis. Dev Cell. 2025 Sep 22; 60(18):2487-2502.e4. View Abstract
75. Prenatal genomic sequencing: Navigating uncertainty. Semin Perinatol. 2025 Apr; 49(3):152058. View Abstract
76. A probabilistic graphical model for estimating selection coefficients of nonsynonymous variants from human population sequence data. Nat Commun. 2025 May 20; 16(1):4670. View Abstract
77. Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation. Genet Med. 2025 Aug; 27(8):101457. View Abstract
78. Understanding speech and language in KIF1A-associated neurological disorder. Eur J Hum Genet. 2026 01; 34(1):78-89. View Abstract
79. Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genet Med. 2025 Jul; 27(7):101443. View Abstract
80. Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown. HGG Adv. 2025 Jul 10; 6(3):100450. View Abstract
81. Opportunities and Challenges of Fetal Gene Therapy. Prenat Diagn. 2025 06; 45(6):764-771. View Abstract
82. Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A. Biomolecules. 2025 05 02; 15(5). View Abstract
83. Genomic newborn screening: exploring opportunities and navigating pitfalls while ensuring inclusivity. Trends Genet. 2025 Aug; 41(8):631-634. View Abstract
84. Understanding individualised genetic interventions as research-treatment hybrids. J Med Ethics. 2025 Apr 24; 51(5). View Abstract
85. Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. Am J Hum Genet. 2025 05 01; 112(5):1117-1138. View Abstract
86. A probabilistic graphical model for estimating selection coefficient of nonsynonymous variants from human population sequence data. medRxiv. 2025 Apr 11. View Abstract
87. Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder. Brain. 2025 Apr 03; 148(4):1194-1211. View Abstract
88. The new newborn screening. Nat Med. 2025 Apr; 31(4):1075-1076. View Abstract
89. Efficient identification of de novo mutations in family trios: a consensus-based informatic approach. Life Sci Alliance. 2025 06; 8(6). View Abstract
90. Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism. J Mol Diagn. 2025 Jun; 27(6):525-537. View Abstract
91. Newborn Screening Using Genome Sequencing for Early Actionable Conditions-Reply. JAMA. 2025 Mar 25; 333(12):1088. View Abstract
92. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proc Natl Acad Sci U S A. 2025 Apr; 122(13):e2420343122. View Abstract
93. A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles. JCI Insight. 2025 Apr 22; 10(8). View Abstract
94. Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder. Genet Med Open. 2025; 3:103425. View Abstract
95. Systematic method for classifying multiple congenital anomaly cases in electronic health records. Genet Med. 2025 Jun; 27(6):101415. View Abstract
96. De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 04 03; 112(4):846-862. View Abstract
97. GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. Elife. 2025 Mar 13; 13. View Abstract
98. Recessive genetic contribution to congenital heart disease in 5,424 probands. Proc Natl Acad Sci U S A. 2025 Mar 11; 122(10):e2419992122. View Abstract
99. Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis. J Am Heart Assoc. 2025 Mar 04; 14(5):e036860. View Abstract
100. Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease. Med Image Anal. 2025 May; 102:103538. View Abstract
101. Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A. bioRxiv. 2025 Feb 27. View Abstract
102. Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data. Am J Hum Genet. 2025 03 06; 112(3):583-598. View Abstract
103. MYRF is Essential in Mesothelial Cells to Promote Lung Development and Maturation. bioRxiv. 2025 Feb 14. View Abstract
104. Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse. Hum Mol Genet. 2025 Feb 08; 34(4):347-367. View Abstract
105. Comparison of autism domains across thirty rare variant genotypes. EBioMedicine. 2025 Feb; 112:105521. View Abstract
106. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025 Apr; 27(4):101369. View Abstract
107. Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. bioRxiv. 2025 Jan 28. View Abstract
108. Risk factors affecting polygenic score performance across diverse cohorts. Elife. 2025 Jan 24; 12. View Abstract
109. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA. 2025 01 21; 333(3):232-240. View Abstract
110. Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. medRxiv. 2025 Jan 17. View Abstract
111. GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. bioRxiv. 2025 Jan 11. View Abstract
112. Clinical outcomes and cost-utility analysis of GKRS plus TKIs versus TKIs in patients with EGFR-mutant lung adenocarcinoma and brain metastases: a Markov decision model. J Neurosurg. 2025 Jun 01; 142(6):1710-1719. View Abstract
113. Physical Activity during Adolescence and Early Adulthood and Breast Cancer Risk before Age 40 Years. Cancer Epidemiol Biomarkers Prev. 2025 Jan 09; 34(1):108-116. View Abstract
114. Correction: Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model. Cancer Epidemiol Biomarkers Prev. 2025 Jan 09; 34(1):205. View Abstract
115. DNA Sequencing in Newborn Screening: Opportunities, Challenges, and Future Directions. Clin Chem. 2025 Jan 03; 71(1):77-86. View Abstract
116. Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction. Breast Cancer Res. 2024 Dec 29; 26(1):189. View Abstract
117. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience. 2025 Feb 21; 28(2):111707. View Abstract
118. Designing and implementing the IDEAL Study: A randomized clinical trial of APOE genotype disclosure for late-onset Alzheimer's disease in an urban Latino population. Alzheimers Dement (N Y). 2024 Oct-Dec; 10(4):e70016. View Abstract
119. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
120. Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesis. bioRxiv. 2024 Dec 02. View Abstract
121. SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. J Pediatr. 2025 03; 278:114422. View Abstract
122. Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar. medRxiv. 2024 Nov 26. View Abstract
123. Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. NPJ Digit Med. 2024 Nov 21; 7(1):333. View Abstract
124. Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery. medRxiv. 2024 Nov 15. View Abstract
125. A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations. Brain. 2024 Nov 04; 147(11):3874-3889. View Abstract
126. Motor phenotypes associated with genetic neurodevelopmental disorders. Ann Clin Transl Neurol. 2024 12; 11(12):3238-3245. View Abstract
127. Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency. JAMA Otolaryngol Head Neck Surg. 2024 Nov 01; 150(11):1038-1039. View Abstract
128. Genetics and precision genomics approaches to pulmonary hypertension. Eur Respir J. 2024 Oct; 64(4). View Abstract
129. Universal newborn screening using genome sequencing: early experience from the GUARDIAN study. Pediatr Res. 2025 Mar; 97(4):1315-1319. View Abstract
130. Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis. Sci Transl Med. 2024 10 16; 16(769):eadj0085. View Abstract
131. Decision Support for Clinician Referral of Patients With Potential BRCA1/2 Mutations for Genetic Counseling: A Secondary Analysis of a Cluster Randomized Clinical Trial. JAMA Netw Open. 2024 Oct 01; 7(10):e2441175. View Abstract
132. Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants. Am J Hum Genet. 2024 11 07; 111(11):2362-2381. View Abstract
133. Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension. bioRxiv. 2024 Sep 22. View Abstract
134. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251. View Abstract
135. PLCG2 variants in cherubism. J Allergy Clin Immunol. 2024 Dec; 154(6):1554-1558. View Abstract
136. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. EBioMedicine. 2024 Sep; 107:105297. View Abstract
137. Context-dependent roles of mitochondrial LONP1 in orchestrating the balance between airway progenitor versus progeny cells. Cell Stem Cell. 2024 10 03; 31(10):1465-1483.e6. View Abstract
138. Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder. Clin Genet. 2025 Jan; 107(1):34-43. View Abstract
139. Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Nat Med. 2024 Oct; 30(10):2782-2786. View Abstract
140. Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic. JAACAP Open. 2025 Jun; 3(2):157-170. View Abstract
141. Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk. JAMA Netw Open. 2024 08 01; 7(8):e2427441. View Abstract
142. Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Eur J Hum Genet. 2024 Aug; 32(8):1032. View Abstract
143. Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT. J Biomed Inform. 2024 09; 157:104702. View Abstract
144. Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND). Am J Ophthalmol. 2024 Dec; 268:247-257. View Abstract
145. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Clin Genet. 2024 Nov; 106(5):574-584. View Abstract
146. Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay. Clin Kidney J. 2024 Aug; 17(8):sfae211. View Abstract
147. Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Neuroimage. 2024 08 15; 297:120721. View Abstract
148. Return of genetic research results in 21,532 individuals with autism. Genet Med. 2024 Oct; 26(10):101202. View Abstract
149. SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clin Genet. 2024 Oct; 106(4):448-461. View Abstract
150. Shortened Cerebral Circulation Time Predicts Resistance to Obliteration in High-Flow Brain Arteriovenous Malformations After Stereotactic Radiosurgery. Neurosurgery. 2024 Dec 01; 95(6):1429-1440. View Abstract
151. Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. J Clin Invest. 2024 Jun 17; 134(12). View Abstract
152. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 06 06; 390(21):1985-1997. View Abstract
153. Promoting equity in clinical research: The role of social determinants of health. J Biomed Inform. 2024 08; 156:104663. View Abstract
154. Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024 Jul; 26(7):101142. View Abstract
155. Pathogenic PHIP Variants are Variably Associated With CAKUT. Kidney Int Rep. 2024 Aug; 9(8):2484-2497. View Abstract
156. Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Genet Med. 2024 Aug; 26(8):101169. View Abstract
157. Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs. Pediatr Cardiol. 2025 Apr; 46(4):798-803. View Abstract
158. Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder. medRxiv. 2024 May 05. View Abstract
159. PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context. bioRxiv. 2024 May 02. View Abstract
160. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Eur J Hum Genet. 2024 Aug; 32(8):928-937. View Abstract
161. Motor difficulties in 16p11.2 copy number variation. Autism Res. 2024 05; 17(5):906-916. View Abstract
162. GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts. ArXiv. 2024 Apr 22. View Abstract
163. Views of Genetic Testing for Autism Among Autism Self-Advocates: A Qualitative Study. AJOB Empir Bioeth. 2024 Oct-Dec; 15(4):262-279. View Abstract
164. An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders. Int J Neonatal Screen. 2024 Apr 16; 10(2). View Abstract
165. Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women. Fam Cancer. 2024 11; 23(4):491-498. View Abstract
166. Risk factors affecting polygenic score performance across diverse cohorts. medRxiv. 2024 Apr 10. View Abstract
167. Improvement of variant reclassification in genetic neurodevelopmental conditions. Genet Med Open. 2024; 2:101845. View Abstract
168. Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions. J Autism Dev Disord. 2025 May; 55(5):1809-1823. View Abstract
169. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 04 04; 147(4):1436-1456. View Abstract
170. Evidence-based recruitment strategies for clinical research: Study personnel's and research participants' perceptions about successful methods of outreach for a U.S. Autism-Research Cohort. J Clin Transl Sci. 2024; 8(1):e65. View Abstract
171. Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder. Gait Posture. 2024 05; 110:77-83. View Abstract
172. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125. View Abstract
173. Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach. bioRxiv. 2024 Mar 13. View Abstract
174. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):742-760. View Abstract
175. The clinical geneticist workforce: Community forums to address challenges and opportunities. Genet Med. 2024 06; 26(6):101121. View Abstract
176. SPARKing New Insight Into Autism Across the Lifespan. Am J Intellect Dev Disabil. 2024 03 01; 129(2):91-95. View Abstract
177. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2024 07; 194(7):e63578. View Abstract
178. Return of polygenic risk scores in research: Stakeholders' views on the eMERGE-IV study. HGG Adv. 2024 Apr 11; 5(2):100281. View Abstract
179. Understanding Social, Cultural, and Religious Factors Influencing Medical Decision-Making on BRCA1/2 Genetic Testing in the Orthodox Jewish Community. Public Health Genomics. 2024; 27(1):57-67. View Abstract
180. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nat Med. 2024 02; 30(2):480-487. View Abstract
181. Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction. medRxiv. 2024 Feb 13. View Abstract
182. Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder. Orphanet J Rare Dis. 2024 02 07; 19(1):45. View Abstract
183. Childhood physical activity and pubertal timing: findings from the LEGACY girls study. Int J Epidemiol. 2024 02 01; 53(1). View Abstract
184. Rescuing lung development through embryonic inhibition of histone acetylation. Sci Transl Med. 2024 01 31; 16(732):eadc8930. View Abstract
185. Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder. Clin Genet. 2024 05; 105(5):523-532. View Abstract
186. Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. J Am Med Inform Assoc. 2024 01 18; 31(2):306-316. View Abstract
187. Urinary Androgens Provide Additional Evidence Related to Metabolism and Are Correlated With Serum Androgens in Girls. J Endocr Soc. 2024 Jan 16; 8(3):bvad161. View Abstract
188. Health supervision for children and adolescents with 16p11.2 deletion syndrome. Cold Spring Harb Mol Case Stud. 2023 12; 9(4). View Abstract
189. Germline and Somatic Mutations in DNA Methyltransferase 3A (DNMT3A) Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice: Implications for Associated PAH. medRxiv. 2023 Dec 31. View Abstract
190. Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability. J Autism Dev Disord. 2025 Jan; 55(1):284-296. View Abstract
191. Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data. Semin Oncol. 2023 12; 50(6):123-130. View Abstract
192. B56d long-disordered arms form a dynamic PP2A regulation interface coupled with global allostery and Jordan's syndrome mutations. Proc Natl Acad Sci U S A. 2024 Jan 02; 121(1):e2310727120. View Abstract
193. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. Am J Hum Genet. 2024 01 04; 111(1):200-210. View Abstract
194. Natural History and Histopathology of Expanding Cysts and Hematomas After Stereotactic Radiosurgery for Arteriovenous Malformations of the Brain: A Case Series. World Neurosurg. 2024 02; 182:e854-e865. View Abstract
195. Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring. Child Care Health Dev. 2024 01; 50(1):e13212. View Abstract
196. Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism. J Clin Transl Sci. 2024; 8(1):e64. View Abstract
197. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034. View Abstract
198. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 12 01; 146(12):5031-5043. View Abstract
199. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nat Commun. 2023 11 30; 14(1):7836. View Abstract
200. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Med. 2023 11 29; 15(1):102. View Abstract
201. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel. J Med Genet. 2023 11 27; 60(12):1186-1197. View Abstract
202. Association of genetic and sulcal traits with executive function in congenital heart disease. Ann Clin Transl Neurol. 2024 02; 11(2):278-290. View Abstract
203. Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders. Res Sq. 2023 Nov 22. View Abstract
204. A novel RNF125 variant associated with Tenorio syndrome alters ubiquitin chain binding. Clin Genet. 2024 03; 105(3):254-261. View Abstract
205. Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups. Am J Med Genet A. 2024 03; 194(3):e63471. View Abstract
206. Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. Am J Hum Genet. 2023 11 02; 110(11):1950-1958. View Abstract
207. Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity. NPJ Genom Med. 2023 Oct 21; 8(1):33. View Abstract
208. Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions. J Community Genet. 2024 Feb; 15(1):85-96. View Abstract
209. Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease. Physiol Genomics. 2023 12 01; 55(12):634-646. View Abstract
210. Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review. J Pediatr Gastroenterol Nutr. 2023 12 01; 77(6):703-712. View Abstract
211. Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease. Commun Med (Lond). 2023 Sep 27; 3(1):127. View Abstract
212. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 10 05; 110(10):1787-1803. View Abstract
213. Improved survival and intracranial tumor control of EGFR-mutated NSCLC patients with newly developed brain metastases following stereotactic radiosurgery and EGFR-TKI: a large retrospective cohort study and meta-analyses. J Neurooncol. 2023 Sep; 164(3):729-739. View Abstract
214. Uncovering key clinical trial features influencing recruitment. J Clin Transl Sci. 2023; 7(1):e199. View Abstract
215. Caregiver-reported dental manifestations in individuals with genetic neurodevelopmental disorders. Int J Paediatr Dent. 2024 Mar; 34(2):145-152. View Abstract
216. Is it advisable to perform radiosurgery for EGFR-TKI-controlled brain metastases? A retrospective study of the role of radiosurgery in lung cancer treatment. J Neurooncol. 2023 Sep; 164(2):413-422. View Abstract
217. Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education. J Clin Oncol. 2023 11 01; 41(31):4905-4915. View Abstract
218. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Abstract
219. Federated Learning: A Cross-Institutional Feasibility Study of Deep Learning Based Intracranial Tumor Delineation Framework for Stereotactic Radiosurgery. J Magn Reson Imaging. 2024 06; 59(6):1967-1975. View Abstract
220. Artificial intelligence and the impact on medical genetics. Am J Med Genet C Semin Med Genet. 2023 09; 193(3):e32060. View Abstract
221. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. medRxiv. 2023 Aug 04. View Abstract
222. Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders. Front Neurosci. 2023; 17:1106573. View Abstract
223. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 08 01; 146(8):3273-3288. View Abstract
224. A deep intronic DLG4 variant resulting in DLG4-related synaptopathy. Clin Genet. 2024 01; 105(1):77-80. View Abstract
225. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 10; 31(10):1117-1124. View Abstract
226. Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy. Clin Biochem. 2023 Aug; 118:110614. View Abstract
227. Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care. Cold Spring Harb Mol Case Stud. 2023 06; 9(3). View Abstract
228. Association Between Pseudoprogression of Vestibular Schwannoma After Radiosurgery and Radiological Features of Solid and Cystic Components. Neurosurgery. 2023 12 01; 93(6):1383-1392. View Abstract
229. Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease. Circ Genom Precis Med. 2023 10; 16(5):415-420. View Abstract
230. Knowledge and beliefs about epilepsy genetics among Hispanic and non-Hispanic patients. Epilepsia. 2023 09; 64(9):2443-2453. View Abstract
231. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension. Genet Med. 2023 11; 25(11):100925. View Abstract
232. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival. Cancer Med. 2023 08; 12(15):16142-16162. View Abstract
233. Phenotypic effects of genetic variants associated with autism. Nat Med. 2023 07; 29(7):1671-1680. View Abstract
234. Newborn screening for Duchenne muscular dystrophy: A two-year pilot study. Ann Clin Transl Neurol. 2023 08; 10(8):1383-1396. View Abstract
235. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 08; 25(8):100866. View Abstract
236. Studying the impact of translational genomic research: Lessons from eMERGE. Am J Hum Genet. 2023 07 06; 110(7):1021-1033. View Abstract
237. Association of antiseizure medication adherence with illness perceptions in adults with epilepsy. Epilepsy Behav. 2023 08; 145:109289. View Abstract
238. Cardiac imaging and biomarkers for assessing myocardial fibrosis in children with hypertrophic cardiomyopathy. Am Heart J. 2023 10; 264:153-162. View Abstract
239. Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations. medRxiv. 2023 Jun 05. View Abstract
240. Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes. J Pediatr. 2023 09; 260:113530. View Abstract
241. Response to Beretich and Beretich. Genet Med. 2023 Oct; 25(10):100903. View Abstract
242. Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis. HGG Adv. 2023 07 13; 4(3):100206. View Abstract
243. Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss. Int J Mol Sci. 2023 May 17; 24(10). View Abstract
244. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med. 2023 06; 16(3):224-231. View Abstract
245. A metadata framework for computational phenotypes. JAMIA Open. 2023 Jul; 6(2):ooad032. View Abstract
246. ARF1-related disorder: phenotypic and molecular spectrum. J Med Genet. 2023 10; 60(10):999-1005. View Abstract
247. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. Br J Cancer. 2023 06; 128(12):2283-2294. View Abstract
248. Risk for Brain Arteriovenous Malformation Rupture During Pregnancy and Puerperium. Neurosurgery. 2023 10 01; 93(4):918-923. View Abstract
249. Design and Rationale the SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study. J Am Heart Assoc. 2023 04 18; 12(8):e028534. View Abstract
250. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View Abstract
251. Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. Circ Genom Precis Med. 2023 06; 16(3):258-266. View Abstract
252. Extended regulation interface coupled to the allosteric network and disease mutations in the PP2A-B56d holoenzyme. bioRxiv. 2023 Apr 05. View Abstract
253. Molecular Function and Contribution of TBX4 in Development and Disease. Am J Respir Crit Care Med. 2023 04 01; 207(7):855-864. View Abstract
254. Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients? Ann Intern Med. 2023 04; 176(4):563-567. View Abstract
255. FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. J Pediatr Genet. 2024 Mar; 13(1):29-34. View Abstract
256. Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives. Genet Med. 2023 06; 25(6):100832. View Abstract
257. Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice. Biol Psychiatry. 2023 11 15; 94(10):769-779. View Abstract
258. Engineered cardiac tissue model of restrictive cardiomyopathy for drug discovery. Cell Rep Med. 2023 03 21; 4(3):100976. View Abstract
259. Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model. Cancer Epidemiol Biomarkers Prev. 2023 03 06; 32(3):422-427. View Abstract
260. Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. Circ Genom Precis Med. 2023 04; 16(2):e003900. View Abstract
261. Predicting survival after radiosurgery in patients with lung cancer brain metastases using deep learning of radiomics and EGFR status. Phys Eng Sci Med. 2023 Jun; 46(2):585-596. View Abstract
262. Predicted loss of function alleles in Bassoon (BSN) are associated with obesity. medRxiv. 2023 Feb 23. View Abstract
263. Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH. Eur Respir J. 2023 02; 61(2). View Abstract
264. Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 04; 16(2):e003816. View Abstract
265. Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder. Front Neurosci. 2023; 17:1024388. View Abstract
266. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circ Genom Precis Med. 2023 04; 16(2):e003791. View Abstract
267. Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Sci Adv. 2023 02 17; 9(7):eade4814. View Abstract
268. Maternal and prenatal factors and age at thelarche in the LEGACY Girls Study cohort: implications for breast cancer risk. Int J Epidemiol. 2023 02 08; 52(1):272-283. View Abstract
269. Practical considerations for reinterpretation of individual genetic variants. Genet Med. 2023 05; 25(5):100801. View Abstract
270. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. Genome Med. 2023 01 26; 15(1):7. View Abstract
271. The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare. Genet Med. 2023 04; 25(4):100022. View Abstract
272. SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants. Brief Bioinform. 2023 01 19; 24(1). View Abstract
273. Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Hum Mol Genet. 2023 01 13; 32(3):473-488. View Abstract
274. Stereotactic radiosurgery for pituitary and cavernous sinus metastases. J Neurooncol. 2023 Jan; 161(1):175-184. View Abstract
275. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 04; 25(4):100006. View Abstract
276. Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. JAMA Netw Open. 2023 01 03; 6(1):e2253191. View Abstract
277. Magnetic resonance imaging signal characteristics associated with prognosis of skull base chordoma after gamma knife radiosurgery. J Neurooncol. 2023 Jan; 161(1):45-56. View Abstract
278. Leukoencephalopathy in patients with brain metastases who received radiosurgery with or without whole brain radiotherapy. J Neurooncol. 2023 Jan; 161(1):85-95. View Abstract
279. First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. Am J Respir Crit Care Med. 2022 12 15; 206(12):1522-1533. View Abstract
280. Lesion delineation framework for vestibular schwannoma, meningioma and brain metastasis for gamma knife radiosurgery using stereotactic magnetic resonance images. Comput Methods Programs Biomed. 2023 Feb; 229:107311. View Abstract
281. Leptomeningeal metastasis in patients with non-small cell lung cancer after stereotactic radiosurgery for brain metastasis. J Neurosurg. 2023 08 01; 139(2):385-392. View Abstract
282. Natural history of lung squamous cell brain metastases in patients treated with radiosurgery: a thirty-year experience at a tertiary medical center. J Neurooncol. 2023 Jan; 161(1):135-146. View Abstract
283. Development of Competency-based Online Genomic Medicine Training (COGENT). Per Med. 2023 01; 20(1):55-64. View Abstract
284. Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. J Pers Med. 2022 Nov 16; 12(11). View Abstract
285. Predicting functional effect of missense variants using graph attention neural networks. Nat Mach Intell. 2022 Nov; 4(11):1017-1028. View Abstract
286. Ventricular arrhythmias in Kearns-Sayre syndrome: A cohort study using the National Inpatient Sample database 2016-2019. Pacing Clin Electrophysiol. 2022 12; 45(12):1357-1363. View Abstract
287. Deep learning for rare disease: A scoping review. J Biomed Inform. 2022 11; 135:104227. View Abstract
288. RNA interference (RNAi)-based therapeutics for treatment of rare neurologic diseases. Mol Aspects Med. 2023 06; 91:101148. View Abstract
289. Body mass index rebound and pubertal timing in girls with and without a family history of breast cancer: the LEGACY girls study. Int J Epidemiol. 2022 10 13; 51(5):1546-1555. View Abstract
290. Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. J Med Genet. 2023 05; 60(5):511-522. View Abstract
291. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol. 2022 10 06; 5(1):1061. View Abstract
292. Risk for Hemorrhage the First 2 Years After Gamma Knife Surgery for Arteriovenous Malformations: An Update. Neurosurgery. 2022 12 01; 91(6):920-927. View Abstract
293. Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy. Am J Med Genet C Semin Med Genet. 2022 06; 190(2):197-205. View Abstract
294. Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot. Int J Neonatal Screen. 2022 Sep 22; 8(4). View Abstract
295. Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing. Public Health Genomics. 2022 Sep 15; 1-8. View Abstract
296. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 11; 24(11):2351-2366. View Abstract
297. OARD: Open annotations for rare diseases and their phenotypes based on real-world data. Am J Hum Genet. 2022 09 01; 109(9):1591-1604. View Abstract
298. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet. 2022 09; 54(9):1305-1319. View Abstract
299. EGFR mutant status and tyrosine-kinase inhibitors affect the GKRS outcomes for NSCLC brain metastases. J Neurooncol. 2022 Sep; 159(3):675-684. View Abstract
300. Clinical Characteristics and Transplant-Free Survival Across the Spectrum of Pulmonary Vascular Disease. J Am Coll Cardiol. 2022 08 16; 80(7):697-718. View Abstract
301. Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. Genet Med. 2022 10; 24(10):2123-2133. View Abstract
302. Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population. Am J Med Genet A. 2022 10; 188(10):3110-3117. View Abstract
303. Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region. Neurol Genet. 2022 Oct; 8(5):e200018. View Abstract
304. Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency. Commun Biol. 2022 08 02; 5(1):779. View Abstract
305. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A. 2022 10; 188(10):2958-2968. View Abstract
306. PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity. Cold Spring Harb Mol Case Stud. 2022 Jul 21. View Abstract
307. Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. Am J Hum Genet. 2022 08 04; 109(8):1549-1558. View Abstract
308. Newborn screening for neurodevelopmental diseases: Are we there yet? Am J Med Genet C Semin Med Genet. 2022 06; 190(2):222-230. View Abstract
309. SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nat Commun. 2022 07 15; 13(1):4112. View Abstract
310. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 09; 45(5):996-1012. View Abstract
311. Reproduction and genetic causal attribution of epilepsy. Epilepsia. 2022 09; 63(9):2392-2402. View Abstract
312. Women's thoughts on receiving and sharing genetic information: Considerations for genetic counseling. J Genet Couns. 2022 12; 31(6):1249-1260. View Abstract
313. Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial. JAMA Netw Open. 2022 07 01; 5(7):e2222092. View Abstract
314. Mother and Daughter Perspectives on Genetic Counseling and Testing of Adolescents for Hereditary Breast Cancer Risk. J Pediatr. 2022 12; 251:113-119.e7. View Abstract
315. Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines. Genet Med. 2022 09; 24(9):1878-1887. View Abstract
316. Erratum: Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. HGG Adv. 2022 Jul 14; 3(3):100126. View Abstract
317. Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications. J Neurodev Disord. 2022 06 28; 14(1):40. View Abstract
318. Recent advances in understanding neuro. Curr Opin Genet Dev. 2022 08; 75:101938. View Abstract
319. Clinical and genetic characterization of CACNA1A-related disease. Clin Genet. 2022 10; 102(4):288-295. View Abstract
320. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 07; 24(7):1407-1414. View Abstract
321. Genome-wide polygenic score to predict chronic kidney disease across ancestries. Nat Med. 2022 07; 28(7):1412-1420. View Abstract
322. Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders. Nat Commun. 2022 06 14; 13(1):3428. View Abstract
323. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genet Med. 2022 09; 24(9):1941-1951. View Abstract
324. Challenges and potential solutions to health disparities in genomic medicine. Cell. 2022 06 09; 185(12):2007-2010. View Abstract
325. Is there a way to reduce the inequity in variant interpretation on the basis of ancestry? Am J Hum Genet. 2022 06 02; 109(6):981-988. View Abstract
326. Congenital diaphragmatic hernia. Nat Rev Dis Primers. 2022 06 01; 8(1):37. View Abstract
327. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol. 2022 06 01; 8(6):835-844. View Abstract
328. Compactness index: a radiosurgery outcome predictor for patients with unruptured brain arteriovenous malformations. J Neurosurg. 2023 01 01; 138(1):241-250. View Abstract
329. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Am J Med Genet A. 2022 09; 188(9):2750-2759. View Abstract
330. Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies. Prenat Diagn. 2022 06; 42(7):947-954. View Abstract
331. Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 May; 30(5):630-631. View Abstract
332. SUR1 As a New Therapeutic Target for Pulmonary Arterial Hypertension. Am J Respir Cell Mol Biol. 2022 05; 66(5):539-554. View Abstract
333. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenetics. 2022 04 19; 14(1):52. View Abstract
334. The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review. Ann Intern Med. 2022 07; 175(7):994-1000. View Abstract
335. Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. HGG Adv. 2022 Jul 14; 3(3):100107. View Abstract
336. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540. View Abstract
337. Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. Am J Hum Genet. 2022 05 05; 109(5):961-966. View Abstract
338. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022 04 07; 109(4):601-617. View Abstract
339. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. Genet Med. 2022 Apr; 24(4):967. View Abstract
340. Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic. Int J Neonatal Screen. 2022 Mar 22; 8(2). View Abstract
341. Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures. Am J Med Genet A. 2022 07; 188(7):1954-1963. View Abstract
342. Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures. Am J Hum Genet. 2022 04 07; 109(4):571-586. View Abstract
343. Weight is More Informative than Body Mass Index for Predicting Postmenopausal Breast Cancer Risk: Prospective Family Study Cohort (ProF-SC). Cancer Prev Res (Phila). 2022 03 01; 15(3):185-191. View Abstract
344. The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genet Med. 2022 05; 24(5):1130-1138. View Abstract
345. Generation of three induced pluripotent stem cells lines from patients with esophageal atresia/tracheoesophageal fistula type C. Stem Cell Res. 2022 04; 60:102711. View Abstract
346. Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circ Genom Precis Med. 2022 04; 15(2):e003500. View Abstract
347. Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome Med. 2022 Feb 07; 14(1):12. View Abstract
348. Channelopathy Genes in Pulmonary Arterial Hypertension. Biomolecules. 2022 02 07; 12(2). View Abstract
349. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. J Clin Oncol. 2022 05 10; 40(14):1529-1541. View Abstract
350. Genetics dictating therapeutic decisions in pediatric pulmonary hypertension? A case report suggesting we are getting closer. Pulm Circ. 2022 Jan; 12(1):e12033. View Abstract
351. Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes (Basel). 2022 01 15; 13(1). View Abstract
352. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 03; 30(3):349-362. View Abstract
353. The genetic architecture of pediatric cardiomyopathy. Am J Hum Genet. 2022 02 03; 109(2):282-298. View Abstract
354. Extracorporeal Membrane Oxygenation (ECMO) and its complications in newborns with congenital diaphragmatic hernia. J Pediatr Surg. 2022 Aug; 57(8):1642-1648. View Abstract
355. Neurogenetic disorders across the lifespan: from aberrant development to degeneration. Nat Rev Neurol. 2022 02; 18(2):117-124. View Abstract
356. Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation. 2022 03 22; 145(12):877-891. View Abstract
357. Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia. Eur J Pediatr Surg. 2021 Dec; 31(6):472-481. View Abstract
358. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 02; 43(2):266-282. View Abstract
359. Recreational Physical Activity and Outcomes After Breast Cancer in Women at High Familial Risk. JNCI Cancer Spectr. 2021 12; 5(6). View Abstract
360. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2022 Jan 13; 3(1):100074. View Abstract
361. Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes. Proc Natl Acad Sci U S A. 2021 11 23; 118(47). View Abstract
362. Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder. Res Dev Disabil. 2021 Dec; 119:104110. View Abstract
363. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Hum Genet. 2022 Jan; 141(1):65-80. View Abstract
364. Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation. J Crohns Colitis. 2021 Nov 08; 15(11):1908-1919. View Abstract
365. Association Between Genetic Testing for Hereditary Breast Cancer and Contralateral Prophylactic Mastectomy Among Multiethnic Women Diagnosed With Early-Stage Breast Cancer. JCO Oncol Pract. 2022 04; 18(4):e472-e483. View Abstract
366. Assessment of functioning using the WHODAS 2.0 among people with stroke in Taiwan: A 4-year follow-up study. Ann Phys Rehabil Med. 2021 Nov; 64(6):101442. View Abstract
367. Neurodevelopmental profile of HIVEP2-related disorder. Dev Med Child Neurol. 2022 05; 64(5):654-661. View Abstract
368. Do research participants share genomic screening results with family members? J Genet Couns. 2022 04; 31(2):447-458. View Abstract
369. Imputing cognitive impairment in SPARK, a large autism cohort. Autism Res. 2022 01; 15(1):156-170. View Abstract
370. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021 10 07; 108(10):2006-2016. View Abstract
371. Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue. Nat Med. 2021 10; 27(10):1701-1711. View Abstract
372. Quantification of tumor response of cystic vestibular schwannoma to Gamma Knife radiosurgery by using artificial intelligence. J Neurosurg. 2022 May 01; 136(5):1298-1306. View Abstract
373. Can 3D artificial intelligence models outshine 2D ones in the detection of intracranial metastatic tumors on magnetic resonance images? J Chin Med Assoc. 2021 10 01; 84(10):956-962. View Abstract
374. Reimbursement for genetic variant reinterpretation: five questions payers should ask. Am J Manag Care. 2021 10 01; 27(10):e336-e338. View Abstract
375. A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. N Engl J Med. 2021 09 30; 385(14):1292-1301. View Abstract
376. Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families. Am J Med Genet A. 2022 01; 188(1):336-342. View Abstract
377. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. Am J Hum Genet. 2021 10 07; 108(10):1964-1980. View Abstract
378. Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes. Genome Med. 2021 09 09; 13(1):147. View Abstract
379. Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. J Med Genet. 2022 Sep; 59(9):906-911. View Abstract
380. Gene expression atlas of energy balance brain regions. JCI Insight. 2021 08 23; 6(16). View Abstract
381. Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1. Mov Disord. 2021 11; 36(11):2681-2687. View Abstract
382. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. Genet Med. 2021 12; 23(12):2415-2425. View Abstract
383. Enhancement of Radiosurgical Treatment Outcome Prediction Using MRI Radiomics in Patients with Non-Small Cell Lung Cancer Brain Metastases. Cancers (Basel). 2021 Aug 10; 13(16). View Abstract
384. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence. Elife. 2021 08 03; 10. View Abstract
385. Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry. JAMA Netw Open. 2021 08 02; 4(8):e2119084. View Abstract
386. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report. Ann N Y Acad Sci. 2021 12; 1506(1):5-17. View Abstract
387. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1. Cold Spring Harb Mol Case Stud. 2021 08; 7(4). View Abstract
388. Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug; 23(8):1582-1584. View Abstract
389. Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. J Med Genet. 2022 07; 59(7):669-677. View Abstract
390. The Irradiated Brain Volume Within 12 Gy Is a Predictor for Radiation-Induced Changes After Stereotactic Radiosurgery in Patients With Unruptured Cerebral Arteriovenous Malformations. Int J Radiat Oncol Biol Phys. 2021 11 01; 111(3):785-793. View Abstract
391. Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts. Mol Genet Genomic Med. 2021 08; 9(8):e1756. View Abstract
392. Clinical and genomic characterization of 8p cytogenomic disorders. Genet Med. 2021 12; 23(12):2342-2351. View Abstract
393. Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment. Amino Acids. 2022 Apr; 54(4):485-499. View Abstract
394. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 10; 23(10):1838-1846. View Abstract
395. Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents. Circ Genom Precis Med. 2021 08; 14(4):e003189. View Abstract
396. Case Report: Esophageal Bronchus in a Neonate, With Image, Histological, and Molecular Analysis. Front Pediatr. 2021; 9:707822. View Abstract
397. Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Med. 2021 Jun 22; 13(1):106. View Abstract
398. Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication. Transl Psychiatry. 2021 Jun 18; 11(1):372. View Abstract
399. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genet Med. 2021 09; 23(9):1726-1737. View Abstract
400. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 07 01; 108(7):1330-1341. View Abstract
401. Comparing 5-Year and Lifetime Risks of Breast Cancer using the Prospective Family Study Cohort. J Natl Cancer Inst. 2021 06 01; 113(6):785-791. View Abstract
402. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 09; 23(9):1715-1725. View Abstract
403. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genet Med. 2021 09; 23(9):1624-1635. View Abstract
404. Developmental basis of trachea-esophageal birth defects. Dev Biol. 2021 09; 477:85-97. View Abstract
405. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 08; 23(8):1381-1390. View Abstract
406. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 08; 23(8):1391-1398. View Abstract
407. Questioning the validity of clinically available breast cancer polygenic risk scores: comparison of two labs reveals discrepancies. Fam Cancer. 2022 04; 21(2):125-127. View Abstract
408. Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1. J Med Genet. 2022 06; 59(6):536-543. View Abstract
409. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 May 14; 12(1):2986. View Abstract
410. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Med. 2021 05 10; 13(1):80. View Abstract
411. Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection. Genet Med. 2021 09; 23(9):1783-1788. View Abstract
412. Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network. JNCI Cancer Spectr. 2021 08; 5(4). View Abstract
413. Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network. Circ Heart Fail. 2021 05; 14(5):e008155. View Abstract
414. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873. View Abstract
415. Common Childhood Viruses and Pubertal Timing: The LEGACY Girls Study. Am J Epidemiol. 2021 05 04; 190(5):766-778. View Abstract
416. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 08; 23(8):1399-1415. View Abstract
417. Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study. J Am Heart Assoc. 2021 05 04; 10(9):e017731. View Abstract
418. Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry. J Pediatr Endocrinol Metab. 2021 May 26; 34(5):633-638. View Abstract
419. Availability of Services and Caregiver Burden: Supporting Individuals With Neurogenetic Conditions During the COVID-19 Pandemic. J Child Neurol. 2021 08; 36(9):760-767. View Abstract
420. Reproductive decision-making in families containing multiple individuals with epilepsy. Epilepsia. 2021 05; 62(5):1220-1230. View Abstract
421. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr; 23(4):796. View Abstract
422. Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA Cardiol. 2021 04 01; 6(4):457-462. View Abstract
423. Response to Li and Hopper. Am J Hum Genet. 2021 03 04; 108(3):527-529. View Abstract
424. 16p11.2 deletion syndrome. Curr Opin Genet Dev. 2021 06; 68:49-56. View Abstract
425. An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results. JAMIA Open. 2021 Jan; 4(1):ooab014. View Abstract
426. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 02 17; 12(1):1078. View Abstract
427. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Circ Res. 2021 04 16; 128(8):1156-1169. View Abstract
428. Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress. Autism Res. 2021 06; 14(6):1209-1219. View Abstract
429. The psychiatric phenotypes of 1q21 distal deletion and duplication. Transl Psychiatry. 2021 02 04; 11(1):105. View Abstract
430. Applying artificial intelligence to longitudinal imaging analysis of vestibular schwannoma following radiosurgery. Sci Rep. 2021 02 04; 11(1):3106. View Abstract
431. Prepubertal Internalizing Symptoms and Timing of Puberty Onset in Girls. Am J Epidemiol. 2021 02 01; 190(3):431-438. View Abstract
432. Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder. HGG Adv. 2021 Apr 08; 2(2). View Abstract
433. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. Neurol Genet. 2021 Feb; 7(1):e551. View Abstract
434. MVP predicts the pathogenicity of missense variants by deep learning. Nat Commun. 2021 01 21; 12(1):510. View Abstract
435. A disorder-related variant (E420K) of a PP2A-regulatory subunit (PPP2R5D) causes constitutively active AKT-mTOR signaling and uncoordinated cell growth. J Biol Chem. 2021 Jan-Jun; 296:100313. View Abstract
436. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. Eur J Hum Genet. 2021 04; 29(4):625-636. View Abstract
437. Does the law require reinterpretation and return of revised genomic results? Genet Med. 2021 05; 23(5):833-836. View Abstract
438. Weight-loss response to naltrexone/bupropion is modulated by the Taq1A genetic variant near DRD2 (rs1800497): A pilot study. Diabetes Obes Metab. 2021 03; 23(3):850-853. View Abstract
439. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 01 06; 29(21):3516-3531. View Abstract
440. Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort. J Autism Dev Disord. 2021 Oct; 51(10):3766-3773. View Abstract
441. A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants. Am J Psychiatry. 2021 01 01; 178(1):77-86. View Abstract
442. GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing. J Genet Couns. 2021 06; 30(3):742-754. View Abstract
443. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Circ Genom Precis Med. 2020 Dec 15. View Abstract
444. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 04; 23(4):653-660. View Abstract
445. Oral manifestations of COVID-2019-related multisystem inflammatory syndrome in children: a review of 47 pediatric patients. J Am Dent Assoc. 2021 03; 152(3):202-208. View Abstract
446. Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network. Am J Med Genet A. 2021 02; 185(2):508-516. View Abstract
447. Common germline-somatic variant interactions in advanced urothelial cancer. Nat Commun. 2020 12 03; 11(1):6195. View Abstract
448. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 12; 6(49). View Abstract
449. Does the Diffuseness of the Nidus Affect the Outcome of Stereotactic Radiosurgery in Patients with Unruptured Cerebral Arteriovenous Malformations? Stereotact Funct Neurosurg. 2021; 99(2):113-122. View Abstract
450. Cases in Precision Medicine: The Role of Polygenic Risk Scores in Breast Cancer Risk Assessment. Ann Intern Med. 2021 03; 174(3):408-412. View Abstract
451. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clin Genet. 2021 02; 99(2):313-317. View Abstract
452. Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS Genet. 2020 11; 16(11):e1009189. View Abstract
453. Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism". Ann Neurol. 2021 01; 89(1):195-196. View Abstract
454. Dysphagia in a Young Man. Case Rep Neurol. 2020 Sep-Dec; 12(3):410-415. View Abstract
455. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. Am J Hum Genet. 2020 11 05; 107(5):963-976. View Abstract
456. Prediction of pseudoprogression and long-term outcome of vestibular schwannoma after Gamma Knife radiosurgery based on preradiosurgical MR radiomics. Radiother Oncol. 2021 02; 155:123-130. View Abstract
457. Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies. Neuron. 2021 01 06; 109(1):59-72.e5. View Abstract
458. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 11; 19(11):908-918. View Abstract
459. Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials. Lancet Diabetes Endocrinol. 2020 12; 8(12):960-970. View Abstract
460. Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. Genet Med. 2021 03; 23(3):534-542. View Abstract
461. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genet Med. 2021 02; 23(2):352-362. View Abstract
462. Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks. Front Neurosci. 2020; 14:562292. View Abstract
463. Circulating growth factor concentrations and breast cancer risk: a nested case-control study of IGF-1, IGFBP-3, and breast cancer in a family-based cohort. Breast Cancer Res. 2020 10 22; 22(1):109. View Abstract
464. Exome sequencing and characterization of 49,960 individuals in the UK Biobank. Nature. 2020 10; 586(7831):749-756. View Abstract
465. Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension. Genes (Basel). 2020 10 16; 11(10). View Abstract
466. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. Elife. 2020 10 15; 9. View Abstract
467. Impact of Coronavirus Disease 2019 (COVID-19) on Patients With Congenital Heart Disease Across the Lifespan: The Experience of an Academic Congenital Heart Disease Center in New York City. J Am Heart Assoc. 2020 12; 9(23):e017580. View Abstract
468. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort. J Autism Dev Disord. 2020 Oct; 50(10):3679-3698. View Abstract
469. Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2020 Oct; 22(10):1731-1732. View Abstract
470. The Steroid Metabolome and Breast Cancer Risk in Women with a Family History of Breast Cancer: The Novel Role of Adrenal Androgens and Glucocorticoids. Cancer Epidemiol Biomarkers Prev. 2021 01; 30(1):89-96. View Abstract
471. Influence of pubertal development on urinary oxidative stress biomarkers in adolescent girls in the New York LEGACY cohort. Free Radic Res. 2020 Jun; 54(6):431-441. View Abstract
472. Genetic Variant Reinterpretation: Economic and Population Health Management Challenges. Popul Health Manag. 2021 06; 24(3):310-313. View Abstract
473. Response to Faulkner et al. Genet Med. 2021 01; 23(1):243. View Abstract
474. Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). Diabetologia. 2020 09; 63(9):1671-1693. View Abstract
475. Genetic Basis of Human Congenital Heart Disease. Cold Spring Harb Perspect Biol. 2020 09 01; 12(9). View Abstract
476. United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics. Chest. 2021 01; 159(1):311-327. View Abstract
477. Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias. HGG Adv. 2020 Oct 22; 1(1). View Abstract
478. A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. J Med Genet. 2021 09; 58(9):592-601. View Abstract
479. Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. Ann Neurol. 2020 11; 88(5):1028-1033. View Abstract
480. Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. Am J Hum Genet. 2020 09 03; 107(3):432-444. View Abstract
481. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 11; 43(6):1333-1348. View Abstract
482. Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). JAMA Oncol. 2020 08 01; 6(8):1218-1230. View Abstract
483. Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes. Genet Med. 2020 12; 22(12):2020-2028. View Abstract
484. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. Am J Hum Genet. 2020 09 03; 107(3):499-513. View Abstract
485. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Hum Mutat. 2020 10; 41(10):1761-1774. View Abstract
486. Participant choices for return of genomic results in the eMERGE Network. Genet Med. 2020 11; 22(11):1821-1829. View Abstract
487. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med. 2020 10; 22(10):1653-1666. View Abstract
488. Language characterization in 16p11.2 deletion and duplication syndromes. Am J Med Genet B Neuropsychiatr Genet. 2020 09; 183(6):380-391. View Abstract
489. Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. Eur J Hum Genet. 2021 01; 29(1):122-130. View Abstract
490. Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). Diabetes Care. 2020 07; 43(7):1617-1635. View Abstract
491. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med. 2020 08; 13(4):e002836. View Abstract
492. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet. 2020 08; 52(8):769-777. View Abstract
493. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Res. 2020 08; 13(8):1300-1310. View Abstract
494. SARS-CoV-2 Infection in Patients with Down Syndrome, Congenital Heart Disease, and Pulmonary Hypertension: Is Down Syndrome a Risk Factor? J Pediatr. 2020 Oct; 225:246-248. View Abstract
495. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 09; 41(9):1577-1587. View Abstract
496. Pediatric genetics: rare is common. Cold Spring Harb Mol Case Stud. 2020 06; 6(3). View Abstract
497. COVID-19's Impact on Genetics at One Medical Center in New York. Genet Med. 2020 09; 22(9):1467-1469. View Abstract
498. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet. 2020 06; 52(6):572-581. View Abstract
499. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genet Med. 2020 08; 22(8):1296-1302. View Abstract
500. Repeated gamma knife radiosurgery enables longer tumor control in cases of highly-recurrent intracranial ependymoma. J Neurooncol. 2020 Jun; 148(2):363-372. View Abstract
501. Recent insights into peroxisome biogenesis and associated diseases. J Cell Sci. 2020 05 11; 133(9). View Abstract
502. Clinical outcome following cerebral AVM hemorrhage. Acta Neurochir (Wien). 2020 07; 162(7):1759-1766. View Abstract
503. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. View Abstract
504. Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals. J Community Genet. 2020 Oct; 11(4):391-403. View Abstract
505. The polygenic architecture of left ventricular mass mirrors the clinical epidemiology. Sci Rep. 2020 05 05; 10(1):7561. View Abstract
506. Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595. View Abstract
507. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Med. 2020 04 29; 12(1):42. View Abstract
508. Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. J Pers Med. 2020 Apr 27; 10(2). View Abstract
509. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet. 2020 06; 21(6):367-376. View Abstract
510. A qualitative study of Latinx parents' experiences of clinical exome sequencing. J Genet Couns. 2020 08; 29(4):574-586. View Abstract
511. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. JACC Basic Transl Sci. 2020 Apr; 5(4):376-386. View Abstract
512. Differences in brain structure and function in children with the FTO obesity-risk allele. Obes Sci Pract. 2020 Aug; 6(4):409-424. View Abstract
513. Considerations When Using Breast Cancer Risk Models for Women with Negative BRCA1/BRCA2 Mutation Results. J Natl Cancer Inst. 2020 04 01; 112(4):418-422. View Abstract
514. Two Novel PNLIP Mutations Causing Congenital Lipase Deficiency in Identical Twin Boys. J Pediatr Gastroenterol Nutr. 2020 04; 70(4):e85-e86. View Abstract
515. Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders. Pediatr Res. 2020 11; 88(5):761-768. View Abstract
516. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet. 2020 04 02; 106(4):467-483. View Abstract
517. Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension. Circulation. 2020 06 16; 141(24):1986-2000. View Abstract
518. Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants. AMIA Annu Symp Proc. 2019; 2019:363-370. View Abstract
519. User engagement with web-based genomics education videos and implications for designing scalable patient education materials. AMIA Annu Symp Proc. 2019; 2019:923-932. View Abstract
520. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol. 2020 07; 44(5):442-468. View Abstract
521. Pneumonia in Parkinson's disease: barium aspiration in videofluoroscopic swallowing study. Respirol Case Rep. 2020 Apr; 8(3):e00546. View Abstract
522. Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2020 Feb 26; 22(1):25. View Abstract
523. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2020 05; 182(5):962-973. View Abstract
524. Magnetic resonance imaging as a single diagnostic tool for verifying radiosurgery outcomes of cavernous sinus dural arteriovenous fistula. Eur J Radiol. 2020 Apr; 125:108866. View Abstract
525. Radiomics as prognostic factor in brain metastases treated with Gamma Knife radiosurgery. J Neurooncol. 2020 Feb; 146(3):439-449. View Abstract
526. Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension. Chest. 2020 05; 157(5):1287-1295. View Abstract
527. Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2020 01 16; 22(1):8. View Abstract
528. Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. Pediatr Pulmonol. 2021 03; 56(3):614-620. View Abstract
529. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020 01; 52(1):56-73. View Abstract
530. Can Clinical Genetics Laboratories be Sued for Medical Malpractice? Ann Health Law Life Sci. 2020; 29(1):153-172. View Abstract
531. The genetics of isolated congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):97-106. View Abstract
532. Gamma Knife radiosurgery for cerebral cavernous malformation. Sci Rep. 2019 12 24; 9(1):19743. View Abstract
533. VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. Cold Spring Harb Mol Case Stud. 2019 12; 5(6). View Abstract
534. Developing effective and efficient genomic educational tools for our diverse population. Ann Transl Med. 2019 Dec; 7(Suppl 8):S304. View Abstract
535. Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC). Breast Cancer Res. 2019 11 28; 21(1):128. View Abstract
536. Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication. Biol Psychiatry Cogn Neurosci Neuroimaging. 2020 10; 5(10):942-950. View Abstract
537. Psychotic symptoms in 16p11.2 copy-number variant carriers. Autism Res. 2020 02; 13(2):187-198. View Abstract
538. Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome Med. 2019 11 14; 11(1):69. View Abstract
539. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. Cancer Res. 2020 02 01; 80(3):624-638. View Abstract
540. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. NPJ Breast Cancer. 2019; 5:38. View Abstract
541. Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network. Front Genet. 2019; 10:1059. View Abstract
542. Comparative outcomes of right versus left congenital diaphragmatic hernia: A multicenter analysis. J Pediatr Surg. 2020 Jan; 55(1):33-38. View Abstract
543. Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management. Ann Intern Med. 2019 12 17; 171(12):925-930. View Abstract
544. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nat Commun. 2019 10 17; 10(1):4722. View Abstract
545. Is there a duty to reinterpret genetic data? The ethical dimensions. Genet Med. 2020 03; 22(3):633-639. View Abstract
546. Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice. Int J Mol Sci. 2019 Oct 11; 20(20). View Abstract
547. Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families. Epilepsia. 2019 11; 60(11):2286-2293. View Abstract
548. Recreational Physical Activity Is Associated with Reduced Breast Cancer Risk in Adult Women at High Risk for Breast Cancer: A Cohort Study of Women Selected for Familial and Genetic Risk. Cancer Res. 2020 01 01; 80(1):116-125. View Abstract
549. Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. Genet Med. 2019 Oct; 21(10):2407. View Abstract
550. Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother. J Clin Endocrinol Metab. 2019 10 01; 104(10):4667-4675. View Abstract
551. Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients? Ann Intern Med. 2019 10 15; 171(8):568-572. View Abstract
552. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. Hum Genet. 2019 Dec; 138(11-12):1259-1266. View Abstract
553. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 05; 105(3):672-674. View Abstract
554. Impact of patient education videos on genetic counseling outcomes after exome sequencing. Patient Educ Couns. 2020 01; 103(1):127-135. View Abstract
555. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019; 4:19. View Abstract
556. Clinical and genetic characterization of individuals with predicted deleterious PHIP variants. Cold Spring Harb Mol Case Stud. 2019 08; 5(4). View Abstract
557. The influence of genetics in congenital diaphragmatic hernia. Semin Perinatol. 2020 02; 44(1):151169. View Abstract
558. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424. View Abstract
559. Applying Deep Neural Network Analysis to High-Content Image-Based Assays. SLAS Discov. 2019 09; 24(8):829-841. View Abstract
560. Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers. J Neurosci. 2019 09 11; 39(37):7321-7331. View Abstract
561. Low-Dose Gamma Knife Radiosurgery for Acromegaly. Neurosurgery. 2019 07 01; 85(1):E20-E30. View Abstract
562. The NASSAU (New ASSessment of cerebral Arteriovenous Malformations yet Unruptured) Analysis: Are the Results From The ARUBA Trial Also Applicable to Unruptured Arteriovenous Malformations Deemed Suitable for Gamma Knife Surgery? Neurosurgery. 2019 07 01; 85(1):E118-E124. View Abstract
563. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proc Natl Acad Sci U S A. 2019 07 09; 116(28):14049-14054. View Abstract
564. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2019 07; 121(2):180-192. View Abstract
565. Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies. Genet Med. 2019 12; 21(12):2781-2790. View Abstract
566. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 11; 21(11):2413-2421. View Abstract
567. Understanding Factors Associated with Uptake of BRCA1/2 Genetic Testing among Orthodox Jewish Women in the USA Using a Mixed-Methods Approach. Public Health Genomics. 2018; 21(5-6):186-196. View Abstract
568. Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). View Abstract
569. The FTO Gene and Measured Food Intake in 5- to 10-Year-Old Children Without Obesity. Obesity (Silver Spring). 2019 06; 27(6):1023-1029. View Abstract
570. Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing. Ann Intern Med. 2019 06 04; 170(11):796-804. View Abstract
571. Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family. Ann Intern Med. 2019 05 21; 170(10):710-716. View Abstract
572. Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results. Ann Intern Med. 2019 05 07; 170(9):643-650. View Abstract
573. Precision Medicine in Internal Medicine. Ann Intern Med. 2019 05 07; 170(9):635-642. View Abstract
574. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. 2019 08; 20(3):129-143. View Abstract
575. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 06; 21(6):1267-1270. View Abstract
576. Gamma knife radiosurgery for the treatment of cavernous sinus meningiomas: post-treatment long-term clinical outcomes, complications, and volume changes. J Neurooncol. 2019 Jun; 143(2):261-270. View Abstract
577. Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study. Breast Cancer Res. 2019 04 18; 21(1):52. View Abstract
578. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nat Commun. 2019 04 15; 10(1):1741. View Abstract
579. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. J Natl Cancer Inst. 2019 04 01; 111(4):350-364. View Abstract
580. Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. Genet Med. 2019 10; 21(10):2371-2380. View Abstract
581. United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. Pulm Circ. 2019 Apr-Jun; 9(2):2045894019851696. View Abstract
582. Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: a case for sequencing the germline. Cold Spring Harb Mol Case Stud. 2019 04; 5(2). View Abstract
583. Rethinking the "open future" argument against predictive genetic testing of children. Genet Med. 2019 10; 21(10):2190-2198. View Abstract
584. Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication. Transl Psychiatry. 2019 03 05; 9(1):107. View Abstract
585. Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk. J Natl Cancer Inst. 2019 03 01; 111(3):331-334. View Abstract
586. Response to Wang et al. Genet Med. 2019 09; 21(9):2158. View Abstract
587. 10-year performance of four models of breast cancer risk: a validation study. Lancet Oncol. 2019 04; 20(4):504-517. View Abstract
588. SMPD1 mutations, activity, and a-synuclein accumulation in Parkinson's disease. Mov Disord. 2019 04; 34(4):526-535. View Abstract
589. Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort. Int J Cancer. 2019 07 15; 145(2):370-379. View Abstract
590. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089. View Abstract
591. A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR. NPJ Genom Med. 2019; 4:3. View Abstract
592. Association of Prepubertal and Adolescent Androgen Concentrations With Timing of Breast Development and Family History of Breast Cancer. JAMA Netw Open. 2019 02 01; 2(2):e190083. View Abstract
593. A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder. Cold Spring Harb Mol Case Stud. 2019 02; 5(1). View Abstract
594. Genetics and genomics of pulmonary arterial hypertension. Eur Respir J. 2019 01; 53(1). View Abstract
595. Intervening Nidal Brain Parenchyma and Risk of Radiation-Induced Changes After Radiosurgery for Brain Arteriovenous Malformation: A Study Using an Unsupervised Machine Learning Algorithm. World Neurosurg. 2019 05; 125:e132-e138. View Abstract
596. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 04; 21(4):772-789. View Abstract
597. Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):287-298. View Abstract
598. Psychiatric disorders in children with 16p11.2 deletion and duplication. Transl Psychiatry. 2019 01 16; 9(1):8. View Abstract
599. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 02 07; 104(2):213-228. View Abstract
600. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. J Inherit Metab Dis. 2019 01; 42(1):147-158. View Abstract
601. Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network. Pac Symp Biocomput. 2019; 24:272-283. View Abstract
602. Response to Evans et al. Genet Med. 2019 08; 21(8):1880-1881. View Abstract
603. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS Genet. 2018 12; 14(12):e1007822. View Abstract
604. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 12 06; 103(6):1054-1055. View Abstract
605. A novel method to determine the natural course of unruptured brain arteriovenous malformations without the need for follow-up information. J Neurosurg. 2018 12 01; 129(Suppl1):10-16. View Abstract
606. The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing. Ann Intern Med. 2019 01 01; 170(1):11-21. View Abstract
607. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 2018 11 20; 138(21):e653-e711. View Abstract
608. Fully automated tissue segmentation of the prescription isodose region delineated through the Gamma knife plan for cerebral arteriovenous malformation (AVM) using fuzzy C-means (FCM) clustering. Neuroimage Clin. 2019; 21:101608. View Abstract
609. Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC). Breast Cancer Res. 2018 11 03; 20(1):132. View Abstract
610. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 11 01; 103(5):786-793. View Abstract
611. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet. 2018 10 01; 27(19):3305-3312. View Abstract
612. Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension. Circ Genom Precis Med. 2018 10; 11(10):e002087. View Abstract
613. Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature. Cold Spring Harb Mol Case Stud. 2018 10; 4(5). View Abstract
614. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018 12; 39(12):1875-1884. View Abstract
615. Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. Am J Med Genet A. 2018 11; 176(11):2470-2478. View Abstract
616. Increasing genomic literacy among adolescents. Genet Med. 2019 04; 21(4):994-1000. View Abstract
617. Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. Neurol Sci. 2018 Nov; 39(11):1917-1925. View Abstract
618. Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Mol Genet Genomic Med. 2018 11; 6(6):898-909. View Abstract
619. Stereotactic radiosurgery for hypervascular intracranial tumors. J Neurooncol. 2018 Dec; 140(3):547-558. View Abstract
620. Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN. Am J Med Genet A. 2018 09; 176(9):1956-1963. View Abstract
621. Parental perceptions of prenatal whole exome sequencing (PPPWES) study. Prenat Diagn. 2018 10; 38(11):801-811. View Abstract
622. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. Am J Med Genet A. 2018 08; 176(8):1773-1777. View Abstract
623. Laboratory considerations for prenatal genetic testing. Semin Perinatol. 2018 08; 42(5):307-313. View Abstract
624. Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing. Prenat Diagn. 2018 09; 38(10):740-747. View Abstract
625. Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. Genome Med. 2018 07 20; 10(1):56. View Abstract
626. Recurrent diffuse lung disease due to surfactant protein C deficiency. Respir Med Case Rep. 2018; 25:91-95. View Abstract
627. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018 Jul 13; 6(3). View Abstract
628. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. Am J Hum Genet. 2018 07 05; 103(1):100-114. View Abstract
629. Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes. Am J Hum Genet. 2018 07 05; 103(1):58-73. View Abstract
630. Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study. JNCI Cancer Spectr. 2018 Apr; 2(2):pky023. View Abstract
631. Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C. Tremor Other Hyperkinet Mov (N Y). 2018; 8:560. View Abstract
632. Assessing patient readiness for personalized genomic medicine. J Community Genet. 2019 Jan; 10(1):109-120. View Abstract
633. Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease. Eur J Med Genet. 2019 Jan; 62(1):65-69. View Abstract
634. Response to ten Broeke et al. Genet Med. 2019 01; 21(1):258-259. View Abstract
635. Progress in Understanding and Treating SCN2A-Mediated Disorders. Trends Neurosci. 2018 07; 41(7):442-456. View Abstract
636. Comparison of methods to assess onset of breast development in the LEGACY Girls Study: methodological considerations for studies of breast cancer. Breast Cancer Res. 2018 04 18; 20(1):33. View Abstract
637. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994. View Abstract
638. Breast cancer family history and allele-specific DNA methylation in the legacy girls study. Epigenetics. 2018; 13(3):240-250. View Abstract
639. Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Circ Genom Precis Med. 2018 04; 11(4):e001887. View Abstract
640. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biol Psychiatry. 2018 08 15; 84(4):253-264. View Abstract
641. Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Hum Mutat. 2018 06; 39(6):870-881. View Abstract
642. Whole-Genome and Whole-Exome Sequencing in Pediatric Oncology: An Assessment of Parent and Young Adult Patient Knowledge, Attitudes, and Expectations. JCO Precis Oncol. 2018; 2. View Abstract
643. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 05; 39(5):593-620. View Abstract
644. Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes. J Am Heart Assoc. 2018 03 09; 7(6). View Abstract
645. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935. View Abstract
646. Robust identification of mosaic variants in congenital heart disease. Hum Genet. 2018 Feb; 137(2):183-193. View Abstract
647. Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 02 02; 9(1):554. View Abstract
648. FTO genotype impacts food intake and corticolimbic activation. Am J Clin Nutr. 2018 02 01; 107(2):145-154. View Abstract
649. Early Stereotactic Radiosurgery for Medically Refractory Trigeminal Neuralgia. World Neurosurg. 2018 Apr; 112:e569-e575. View Abstract
650. The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One. 2018; 13(1):e0191319. View Abstract
651. MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. Genet Med. 2018 10; 20(10):1167-1174. View Abstract
652. Lumbar Dorsal Root Ganglion Block as a Prognostic Tool Before Pulsed Radiofrequency: A Randomized, Prospective, and Comparative Study on Cost-Effectiveness. World Neurosurg. 2018 Apr; 112:e157-e164. View Abstract
653. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 01 04; 9(1):67. View Abstract
654. Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. J Pers Med. 2018 Jan 03; 8(1). View Abstract
655. A definition of gentle ventilation in congenital diaphragmatic hernia: a survey of neonatologists and pediatric surgeons. J Perinat Med. 2017 Dec 20; 45(9):1031-1038. View Abstract
656. Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies. J Genet Couns. 2018 08; 27(4):927-934. View Abstract
657. Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience. Front Pediatr. 2017; 5:265. View Abstract
658. Dallas MegaShelter Medical Operations Response to Hurricane Harvey. Disaster Med Public Health Prep. 2019 02; 13(1):90-93. View Abstract
659. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017 Dec; 82(6):1004-1015. View Abstract
660. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 02; 176(2):311-318. View Abstract
661. Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study. J Genet Couns. 2018 06; 27(3):709-722. View Abstract
662. De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View Abstract
663. The impact of hereditary cancer gene panels on clinical care and lessons learned. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View Abstract
664. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685. View Abstract
665. PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics. Circ Res. 2017 10 27; 121(10):1136-1139. View Abstract
666. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med. 2018 06; 20(6):608-613. View Abstract
667. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov; 49(11):1593-1601. View Abstract
668. Pediatric Cardiomyopathies. Circ Res. 2017 Sep 15; 121(7):855-873. View Abstract
669. The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery. J Am Heart Assoc. 2017 Sep 09; 6(9). View Abstract
670. Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium. Genet Med. 2018 04; 20(5):545-553. View Abstract
671. CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2017 08; 19(8):962. View Abstract
672. Congenital diaphragmatic hernias: from genes to mechanisms to therapies. Dis Model Mech. 2017 08 01; 10(8):955-970. View Abstract
673. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12; 136(11):1037-1048. View Abstract
674. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017 06 20; 317(23):2402-2416. View Abstract
675. Corrigendum: MC4R-dependent suppression of appetite by bone-derived lipocalin 2. Nature. 2017 06 14; 546(7658):440. View Abstract
676. Pubertal development in girls by breast cancer family history: the LEGACY girls cohort. Breast Cancer Res. 2017 06 08; 19(1):69. View Abstract
677. Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. J Med Genet. 2017 12; 54(12):825-829. View Abstract
678. 23andMe Paves the Way for Direct-to-Consumer Genetic Health Risk Tests of Limited Clinical Utility. Ann Intern Med. 2017 Jul 18; 167(2):125-126. View Abstract
679. ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations. Laryngoscope. 2017 10; 127(10):E336-E339. View Abstract
680. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924. View Abstract
681. Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea. J Lipid Res. 2017 06; 58(6):1230-1237. View Abstract
682. Frequency of GBA variants in autopsy-proven multiple system atrophy. Mov Disord Clin Pract. 2017 Jul-Aug; 4(4):574-581. View Abstract
683. Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients. J Genet Couns. 2017 Oct; 26(5):1116-1129. View Abstract
684. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet. 2017 May; 49(5):680-691. View Abstract
685. Developmental trajectories for young children with 16p11.2 copy number variation. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun; 174(4):367-380. View Abstract
686. Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA. Pulm Circ. 2017 Apr-Jun; 7(2):372-383. View Abstract
687. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Hum Genet. 2017 06; 136(6):679-691. View Abstract
688. MC4R-dependent suppression of appetite by bone-derived lipocalin 2. Nature. 2017 03 16; 543(7645):385-390. View Abstract
689. Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease. Cell Rep. 2017 02 07; 18(6):1484-1498. View Abstract
690. Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group. Circ Heart Fail. 2017 Feb; 10(2). View Abstract
691. Celiac disease and Down syndrome mortality: a nationwide cohort study. BMC Pediatr. 2017 Jan 31; 17(1):41. View Abstract
692. Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia. J Pediatr Surg. 2017 Nov; 52(11):1747-1750. View Abstract
693. iPSC-derived ß cells model diabetes due to glucokinase deficiency. J Clin Invest. 2017 03 01; 127(3):1115. View Abstract
694. Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia. Cardiol Young. 2017 May; 27(4):797-800. View Abstract
695. Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program. J Genet Couns. 2017 Aug; 26(4):806-813. View Abstract
696. Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research. J Genet Couns. 2017 Aug; 26(4):841-851. View Abstract
697. Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. Genome Med. 2016 12 23; 8(1):133. View Abstract
698. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017 Jan 05; 100(1):117-127. View Abstract
699. Childhood acromegaly due to X-linked acrogigantism: long term follow-up. Pituitary. 2016 Dec; 19(6):560-564. View Abstract
700. Population-Based Study of Attitudes toward BRCA Genetic Testing among Orthodox Jewish Women. Breast J. 2017 May; 23(3):333-337. View Abstract
701. The role of genetics in pulmonary arterial hypertension. J Pathol. 2017 Jan; 241(2):273-280. View Abstract
702. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 02; 19(2):249-255. View Abstract
703. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 05; 19(5):575-582. View Abstract
704. Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. Traffic. 2016 12; 17(12):1297-1312. View Abstract
705. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. 2016 11; 2(6):a001172. View Abstract
706. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat. 2017 01; 161(1):117-134. View Abstract
707. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 12; 135(12):1399-1409. View Abstract
708. Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nat Commun. 2016 09 27; 7:12824. View Abstract
709. Rare variant phasing and haplotypic expression from RNA sequencing with phASER. Nat Commun. 2016 09 08; 7:12817. View Abstract
710. Depression and genetic causal attribution of epilepsy in multiplex epilepsy families. Epilepsia. 2016 Oct; 57(10):1643-1650. View Abstract
711. Deep Genetic Connection Between Cancer and Developmental Disorders. Hum Mutat. 2016 10; 37(10):1042-50. View Abstract
712. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016 09 01; 99(3):728-734. View Abstract
713. Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. J Autism Dev Disord. 2016 Aug; 46(8):2734-2748. View Abstract
714. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A. 2016 11; 170(11):2943-2955. View Abstract
715. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 07 07; 99(1):246. View Abstract
716. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 02; 54(2):84-86. View Abstract
717. Hypertrophic cardiomyopathy: New approaches and a time to reappraise older approaches. J Thorac Cardiovasc Surg. 2016 10; 152(4):983-8. View Abstract
718. Comparison of Clinical, Maternal, and Self Pubertal Assessments: Implications for Health Studies. Pediatrics. 2016 07; 138(1). View Abstract
719. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. Am J Hum Genet. 2016 06 02; 98(6):1235-1242. View Abstract
720. Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome. Circ Arrhythm Electrophysiol. 2016 06; 9(6). View Abstract
721. Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. Hum Brain Mapp. 2016 08; 37(8):2833-48. View Abstract
722. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066. View Abstract
723. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Am J Med Genet A. 2016 07; 170(7):1791-8. View Abstract
724. The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History. Epidemiology. 2016 May; 27(3):438-48. View Abstract
725. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nat Commun. 2016 04 27; 7:11375. View Abstract
726. Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome. J Clin Oncol. 2016 06 20; 34(18):2172-81. View Abstract
727. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 2016 07; 17(3):173-8. View Abstract
728. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 07; 135(7):699-705. View Abstract
729. Report of the National Heart, Lung, and Blood Institute Working Group: An Integrated Network for Congenital Heart Disease Research. Circulation. 2016 Apr 05; 133(14):1410-8. View Abstract
730. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 07; 17(3):159-64. View Abstract
731. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2016 11; 18(11):1143-1150. View Abstract
732. SCARB2 variants and glucocerebrosidase activity in Parkinson's disease. NPJ Parkinsons Dis. 2016; 2. View Abstract
733. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570. View Abstract
734. A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services. Pediatrics. 2016 Feb; 137(2):e20143874. View Abstract
735. BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis. Lancet Respir Med. 2016 Feb; 4(2):129-37. View Abstract
736. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan; 73(1):20-30. View Abstract
737. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Cold Spring Harb Mol Case Stud. 2016 Jan; 2(1):a000661. View Abstract
738. Cardiothoracic surgical site phaeohyphomycosis caused by Bipolaris mould, multiple US states, 2008-2013: a clinical description. Med Mycol. 2016 Mar; 54(3):318-21. View Abstract
739. Parents' interest in genetic testing of their offspring in multiplex epilepsy families. Epilepsia. 2016 Feb; 57(2):279-87. View Abstract
740. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med. 2016 08; 18(8):823-32. View Abstract
741. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6. View Abstract
742. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016 07; 18(7):696-704. View Abstract
743. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan; 17(1):43-9. View Abstract
744. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 04; 88(3):499-513. View Abstract
745. Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society. Circulation. 2015 Nov 24; 132(21):2037-99. View Abstract
746. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy. J Autism Dev Disord. 2015 Nov; 45(11):3764-70. View Abstract
747. Psychosocial Adjustment in School-age Girls With a Family History of Breast Cancer. Pediatrics. 2015 Nov; 136(5):927-37. View Abstract
748. Gamma Knife Radiosurgery for Atypical and Anaplastic Meningiomas. World Neurosurg. 2016 Mar; 87:557-64. View Abstract
749. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec; 36(12):1113-27. View Abstract
750. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000562. View Abstract
751. De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000356. View Abstract
752. De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000455. View Abstract
753. Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice. Pediatrics. 2015 Oct; 136(4):e974-82. View Abstract
754. A Prospective Randomized Study of Brain Tissue Oxygen Pressure-Guided Management in Moderate and Severe Traumatic Brain Injury Patients. Biomed Res Int. 2015; 2015:529580. View Abstract
755. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016 May; 24(5):652-9. View Abstract
756. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. Am J Hum Genet. 2015 Sep 03; 97(3):457-64. View Abstract
757. Genetic causal attribution of epilepsy and its implications for felt stigma. Epilepsia. 2015 Oct; 56(10):1542-50. View Abstract
758. Mutations in ARID2 are associated with intellectual disabilities. Neurogenetics. 2015 Oct; 16(4):307-14. View Abstract
759. Abnormal auditory and language pathways in children with 16p11.2 deletion. Neuroimage Clin. 2015; 9:50-7. View Abstract
760. Association of a Best-Practice Alert and Prenatal Administration With Tetanus Toxoid, Reduced Diphtheria Toxoid, and Acellular Pertussis Vaccination Rates. Obstet Gynecol. 2015 Aug; 126(2):333-337. View Abstract
761. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. Am J Hum Genet. 2015 Aug 06; 97(2):343-52. View Abstract
762. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet. 2015 Sep; 52(9):627-35. View Abstract
763. Cohort Profile: The Breast Cancer Prospective Family Study Cohort (ProF-SC). Int J Epidemiol. 2016 06; 45(3):683-92. View Abstract
764. CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc. 2015 Nov; 22(6):1231-42. View Abstract
765. Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. Brain. 2015 Sep; 138(Pt 9):2648-58. View Abstract
766. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr; 18(4):341-9. View Abstract
767. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. J Med Genet. 2015 Aug; 52(8):541-7. View Abstract
768. Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia. Hum Mol Genet. 2015 Aug 15; 24(16):4764-73. View Abstract
769. Evaluation of the CAV1 gene in clinically, sonographically and histologically proven morphea patients. Exp Dermatol. 2015 Sep; 24(9):718-20. View Abstract
770. Second primary breast cancer in BRCA1 and BRCA2 mutation carriers: 10-year cumulative incidence in the Breast Cancer Family Registry. Breast Cancer Res Treat. 2015 Jun; 151(3):653-60. View Abstract
771. New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding ?-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). Fetal Diagn Ther. 2015; 38(4):296-306. View Abstract
772. Gamma Knife radiosurgery for facial nerve schwannomas: a multicenter study. J Neurosurg. 2015 Aug; 123(2):387-94. View Abstract
773. Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death. Pediatr Dev Pathol. 2015 Jul-Aug; 18(4):324-6. View Abstract
774. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res. 2015 Apr 25; 17:61. View Abstract
775. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015 Apr 07; 313(13):1347-61. View Abstract
776. Development of cultured Plasmodium falciparum blood-stage malaria cell banks for early phase in vivo clinical trial assessment of anti-malaria drugs and vaccines. Malar J. 2015 Apr 07; 14:143. View Abstract
777. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS One. 2015; 10(4):e0120020. View Abstract
778. Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research. Pediatr Blood Cancer. 2015 Aug; 62(8):1374-80. View Abstract
779. Dual optical recordings for action potentials and calcium handling in induced pluripotent stem cell models of cardiac arrhythmias using genetically encoded fluorescent indicators. Stem Cells Transl Med. 2015 May; 4(5):468-75. View Abstract
780. Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. J Inherit Metab Dis. 2015 Sep; 38(5):941-8. View Abstract
781. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science. 2015 Mar 27; 347(6229):1436-41. View Abstract
782. The association between congenital diaphragmatic hernia and undescended testes. J Pediatr Surg. 2015 May; 50(5):744-5. View Abstract
783. Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. Cereb Cortex. 2016 May; 26(5):1957-64. View Abstract
784. Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. Clin Case Rep. 2015 Apr; 3(4):237-9. View Abstract
785. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry. 2015 Feb; 72(2):119-26. View Abstract
786. Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research. J Genet Couns. 2015 Oct; 24(5):833-41. View Abstract
787. Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension. Am J Respir Crit Care Med. 2015 Jan 15; 191(2):208-18. View Abstract
788. Spectrum of neuropathophysiology in spinal muscular atrophy type I. J Neuropathol Exp Neurol. 2015 Jan; 74(1):15-24. View Abstract
789. The authors reply. Hastings Cent Rep. 2015 Jan-Feb; 45(1):4. View Abstract
790. Researchers' views on informed consent for return of secondary results in genomic research. Genet Med. 2015 Aug; 17(8):644-50. View Abstract
791. Gamma Knife surgery for craniopharyngioma: report on a 20-year experience. J Neurosurg. 2014 Dec; 121 Suppl:167-78. View Abstract
792. Adrenergic receptor genotype influences heart failure severity and ß-blocker response in children with dilated cardiomyopathy. Pediatr Res. 2015 Feb; 77(2):363-9. View Abstract
793. Should life insurers have access to genetic test results? JAMA. 2014 Nov 12; 312(18):1855-6. View Abstract
794. When to offer genetic testing for pulmonary arterial hypertension. Can J Cardiol. 2015 Apr; 31(4):544-7. View Abstract
795. Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. Hum Mol Genet. 2015 Mar 01; 24(5):1420-31. View Abstract
796. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov; 16(11):e1. View Abstract
797. Genetics of pulmonary hypertension. Curr Opin Cardiol. 2014 Nov; 29(6):520-7. View Abstract
798. Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014 Dec; 19(6):324-30. View Abstract
799. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015 Jan; 24(1):308-16. View Abstract
800. Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. Genet Med. 2015 Jun; 17(6):485-92. View Abstract
801. [Genetics and genomics of pulmonary arterial hypertension]. Turk Kardiyol Dern Ars. 2014 Oct; 42 Suppl 1:17-28. View Abstract
802. Genetic testing of children for diseases that have onset in adulthood: the limits of family interests. Pediatrics. 2014 Oct; 134 Suppl 2:S104-10. View Abstract
803. Genetic testing preferences in families containing multiple individuals with epilepsy. Epilepsia. 2014 Nov; 55(11):1705-13. View Abstract
804. Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions. Obesity (Silver Spring). 2014 Dec; 22(12):2625-31. View Abstract
805. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res. 2014 Oct 24; 115(10):884-896. View Abstract
806. Opposing brain differences in 16p11.2 deletion and duplication carriers. J Neurosci. 2014 Aug 20; 34(34):11199-211. View Abstract
807. Reply: To PMID 23893312. Muscle Nerve. 2014 Sep; 50(3):458-9. View Abstract
808. Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes. Pediatr Diabetes. 2015 May; 16(3):227-33. View Abstract
809. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014 Aug 26; 83(9):810-7. View Abstract
810. Catecholaminergic polymorphic ventricular tachycardia in a child with Brugada pattern on ECG: one patient with two diseases? Heart Rhythm. 2014 Nov; 11(11):2101-4. View Abstract
811. The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations. JIMD Rep. 2014; 16:75-9. View Abstract
812. Psychiatrists' views of the genetic bases of mental disorders and behavioral traits and their use of genetic tests. J Nerv Ment Dis. 2014 Jul; 202(7):530-8. View Abstract
813. Views of preimplantation genetic diagnosis among psychiatrists and neurologists. J Reprod Med. 2014 Jul-Aug; 59(7-8):385-92. View Abstract
814. Complex genetics and the etiology of human congenital heart disease. Cold Spring Harb Perspect Med. 2014 Jul 01; 4(7):a013953. View Abstract
815. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol Psychiatry. 2015 May 01; 77(9):785-93. View Abstract
816. Models of consent to return of incidental findings in genomic research. Hastings Cent Rep. 2014 Jul-Aug; 44(4):22-32. View Abstract
817. The usefulness of whole-exome sequencing in routine clinical practice. Genet Med. 2014 Dec; 16(12):922-31. View Abstract
818. Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol. 2014 Jun; 71(6):752-7. View Abstract
819. Human subjects protection: an event monitoring committee for research studies of girls from breast cancer families. J Adolesc Health. 2014 Sep; 55(3):352-7. View Abstract
820. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum Genet. 2014 Jun 05; 94(6):818-26. View Abstract
821. Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice. Cell Metab. 2014 May 06; 19(5):767-79. View Abstract
822. The motor neuron response to SMN1 deficiency in spinal muscular atrophy. Muscle Nerve. 2014 May; 49(5):636-44. View Abstract
823. Aberrant white matter microstructure in children with 16p11.2 deletions. J Neurosci. 2014 Apr 30; 34(18):6214-23. View Abstract
824. CANOES: detecting rare copy number variants from whole exome sequencing data. Nucleic Acids Res. 2014 Jul; 42(12):e97. View Abstract
825. Correlation of DNA methylation levels in blood and saliva DNA in young girls of the LEGACY Girls study. Epigenetics. 2014 Jul; 9(7):929-33. View Abstract
826. BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. Cancer. 2014 Jul 01; 120(13):1960-7. View Abstract
827. Bitter taste phenotype and body weight predict children's selection of sweet and savory foods at a palatable test-meal. Appetite. 2014 Jun; 77:113-21. View Abstract
828. The effect of cardiac genetic testing on psychological well-being and illness perceptions. Heart Lung. 2014 Mar-Apr; 43(2):127-32. View Abstract
829. Pertussis: a persistent cause of morbidity and mortality in young infants. J Pediatr. 2014 Jun; 164(6):1489-92.e1. View Abstract
830. EIF2AK4 mutations in pulmonary capillary hemangiomatosis. Chest. 2014 Feb; 145(2):231-236. View Abstract
831. Dilated cardiomyopathy due to a phospholamban duplication. Cardiol Young. 2014 Oct; 24(5):953-4. View Abstract
832. Quantitative analysis of copy number variants based on real-time LightCycler PCR. Curr Protoc Hum Genet. 2014 Jan 21; 80:7.21.1-7.21.8. View Abstract
833. The genetic basis of pulmonary arterial hypertension. Hum Genet. 2014 May; 133(5):471-9. View Abstract
834. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet. 2014 Mar; 51(3):197-202. View Abstract
835. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2013 Dec 24; 62(25 Suppl):D13-21. View Abstract
836. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med. 2013 11 28; 369(22):2162. View Abstract
837. Clinical features of West Nile virus epidemic in Dallas, Texas, 2012. Diagn Microbiol Infect Dis. 2014 Feb; 78(2):132-6. View Abstract
838. ß-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome. Diabetes. 2014 Mar; 63(3):923-33. View Abstract
839. Informed consent for return of incidental findings in genomic research. Genet Med. 2014 May; 16(5):367-73. View Abstract
840. Weight loss after bariatric surgery in morbidly obese adolescents with MC4R mutations. Obesity (Silver Spring). 2014 Jan; 22(1):225-31. View Abstract
841. Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity. Obesity (Silver Spring). 2014 Feb; 22(2):576-84. View Abstract
842. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat. 2013 Dec; 34(12):1632-41. View Abstract
843. Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. JIMD Rep. 2014; 12:121-7. View Abstract
844. Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study. J Pediatr Surg. 2013 Oct; 48(10):1995-2004. View Abstract
845. Processes and factors involved in decisions regarding return of incidental genomic findings in research. Genet Med. 2014 Apr; 16(4):311-7. View Abstract
846. Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet. 2013 Oct; 6(5):444-51. View Abstract
847. Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability. Rare Dis. 2013; 1:e26314. View Abstract
848. Defining a comprehensive verotype using electronic health records for personalized medicine. J Am Med Inform Assoc. 2013 Dec; 20(e2):e232-8. View Abstract
849. The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Hum Genet. 2014 Jan; 133(1):11-27. View Abstract
850. A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice. Rare Dis. 2013; 1:e26144. View Abstract
851. Genetic loss of SH2B3 in acute lymphoblastic leukemia. Blood. 2013 Oct 03; 122(14):2425-32. View Abstract
852. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med. 2013 Jul 25; 369(4):351-361. View Abstract
853. Return of secondary genomic findings vs patient autonomy: implications for medical care. JAMA. 2013 Jul 24; 310(4):369-70. View Abstract
854. Incidental findings in the era of whole genome sequencing? Hastings Cent Rep. 2013 Jul-Aug; 43(4):16-9. View Abstract
855. Researchers' views on return of incidental genomic research results: qualitative and quantitative findings. Genet Med. 2013 Nov; 15(11):888-95. View Abstract
856. Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training. J Genet Couns. 2014 Apr; 23(2):156-63. View Abstract
857. iPSC-derived ß cells model diabetes due to glucokinase deficiency. J Clin Invest. 2013 07; 123(7):3146-53. View Abstract
858. Microcomputed tomography provides high accuracy congenital heart disease diagnosis in neonatal and fetal mice. Circ Cardiovasc Imaging. 2013 Jul; 6(4):551-9. View Abstract
859. Knowledge of and interest in genetic results among Parkinson disease patients and caregivers. J Genet Couns. 2014 Feb; 23(1):114-20. View Abstract
860. Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia. JAMA Neurol. 2013 Jun; 70(6):788-91. View Abstract
861. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013 Jun 06; 92(6):996-1000. View Abstract
862. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13; 498(7453):220-3. View Abstract
863. High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. Clin Cancer Res. 2013 Jul 01; 19(13):3396-403. View Abstract
864. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77. View Abstract
865. Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 Jul; 17(7):553-61. View Abstract
866. Prompt control of an outbreak caused by extended-spectrum ß-lactamase-producing Klebsiella pneumoniae in a neonatal intensive care unit. J Pediatr. 2013 Sep; 163(3):672-9.e1-3. View Abstract
867. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013; 8(4):e60113. View Abstract
868. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013; 9(3):e1003212. View Abstract
869. Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. Nat Genet. 2013 May; 45(5):518-21. View Abstract
870. Risk of pancreatic cancer in breast cancer families from the breast cancer family registry. Cancer Epidemiol Biomarkers Prev. 2013 May; 22(5):803-11. View Abstract
871. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res. 2013 Feb 15; 112(4):698-706. View Abstract
872. Outcomes of congenital diaphragmatic hernia in the modern era of management. J Pediatr. 2013 Jul; 163(1):114-9.e1. View Abstract
873. Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation. Hum Genet. 2013 May; 132(5):523-36. View Abstract
874. Cancer genetic counselor information needs for risk communication: a qualitative evaluation of interview transcripts. J Pers Med. 2013; 3(3). View Abstract
875. Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics. J Gen Physiol. 2013 Jan; 141(1):61-72. View Abstract
876. Views of internists towards uses of PGD. Reprod Biomed Online. 2013 Feb; 26(2):142-7. View Abstract
877. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012 Dec 07; 91(6):987-97. View Abstract
878. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet. 2013 Mar; 132(3):285-92. View Abstract
879. Effectiveness of a school district closure for pandemic influenza A (H1N1) on acute respiratory illnesses in the community: a natural experiment. Clin Infect Dis. 2013 Feb; 56(4):509-16. View Abstract
880. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012 Oct 30; 79(18):1889-97. View Abstract
881. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct; 49(10):660-8. View Abstract
882. De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet. 2012 Oct; 49(10):650-9. View Abstract
883. How fast can a choroid plexus papilloma grow? J Formos Med Assoc. 2014 Aug; 113(8):569-70. View Abstract
884. A public resource facilitating clinical use of genomes. Proc Natl Acad Sci U S A. 2012 Jul 24; 109(30):11920-7. View Abstract
885. Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations. Laryngoscope. 2012 Sep; 122(9):2082-7. View Abstract
886. A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012 Aug; 21(8):1362-70. View Abstract
887. Attitudes and practices among internists concerning genetic testing. J Genet Couns. 2013 Feb; 22(1):90-100. View Abstract
888. Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. Circ Cardiovasc Genet. 2012 Jun; 5(3):336-43. View Abstract
889. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012 Apr; 21(4):645-57. View Abstract
890. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. View Abstract
891. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat. 2012 Apr; 33(4):690-702. View Abstract
892. Common variants in the CD36 gene are associated with oral fat perception, fat preferences, and obesity in African Americans. Obesity (Silver Spring). 2012 May; 20(5):1066-73. View Abstract
893. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol. 2011 Dec; 70(6):996-1005. View Abstract
894. Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9. Congest Heart Fail. 2012 May-Jun; 18(3):183-6. View Abstract
895. Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2011; 13(6):R110. View Abstract
896. Novel SLC39A4 mutation in acrodermatitis enteropathica. Pediatr Dermatol. 2011 Nov-Dec; 28(6):697-700. View Abstract
897. Similarity-based disease risk assessment for personal genomes: proof of concept. AMIA Annu Symp Proc. 2011; 2011:1524-31. View Abstract
898. An overview of mongenic and syndromic obesities in humans. Pediatr Blood Cancer. 2012 Jan; 58(1):122-8. View Abstract
899. Clinical and molecular genetic features of hereditary pulmonary arterial hypertension. Compr Physiol. 2011 Oct; 1(4):1721-8. View Abstract
900. Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III. J Child Neurol. 2011 Dec; 26(12):1499-507. View Abstract
901. Intragenic deletion as a novel type of mutation in Wolman disease. Mol Genet Metab. 2011 Dec; 104(4):703-5. View Abstract
902. Fat discrimination: a phenotype with potential implications for studying fat intake behaviors and obesity. Physiol Behav. 2012 Jan 18; 105(2):470-5. View Abstract
903. Association of Allelic Variation in Genes Mediating Aspects of Energy Homeostasis with Weight Gain during Administration of Antipsychotic Drugs (CATIE Study). Front Genet. 2011; 2:56. View Abstract
904. Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. Cardiol Young. 2012 Apr; 22(2):194-201. View Abstract
905. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet. 2011 Dec; 19(12):1238-45. View Abstract
906. Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease. JIMD Rep. 2011; 1:79-82. View Abstract
907. Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. J Inherit Metab Dis. 2012 Jan; 35(1):125-31. View Abstract
908. Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. Circulation. 2011 May 31; 123(21):2353-62. View Abstract
909. A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis. J Inherit Metab Dis. 2011 Oct; 34(5):1013-22. View Abstract
910. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol. 2011 May; 44(5):317-27. View Abstract
911. Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome. Genet Test Mol Biomarkers. 2011 Jul-Aug; 15(7-8):525-9. View Abstract
912. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol. 2011 Jun; 68(6):779-86. View Abstract
913. Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death. Cardiol Young. 2011 Jun; 21(3):345-8. View Abstract
914. Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther. 2011; 23(4):322-6. View Abstract
915. Global DNA methylation levels in girls with and without a family history of breast cancer. Epigenetics. 2011 Jan; 6(1):29-33. View Abstract
916. Determinants of extracellular matrix remodelling are differentially expressed in paediatric and adult dilated cardiomyopathy. Eur J Heart Fail. 2011 Mar; 13(3):271-7. View Abstract
917. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol. 2010 Dec; 68(6):955-8. View Abstract
918. Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling. J Biol Chem. 2011 Jan 21; 286(3):2155-70. View Abstract
919. Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch Neurol. 2010 Oct; 67(10):1252-6. View Abstract
920. Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and genetics. Clin Cancer Res. 2010 Oct 15; 16(20):5028-37. View Abstract
921. Identifying interdisciplinary research priorities to prevent and treat pediatric obesity in New York City. Clin Transl Sci. 2010 Aug; 3(4):172-7. View Abstract
922. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010 Aug; 6(8):445-53. View Abstract
923. Enalapril in infants with single ventricle: results of a multicenter randomized trial. Circulation. 2010 Jul 27; 122(4):333-40. View Abstract
924. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010 Jul; 12(7):446-63. View Abstract
925. Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. Circ Res. 2010 May 14; 106(9):1549-52. View Abstract
926. Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis. Mol Genet Metab. 2010 Jun; 100(2):129-35. View Abstract
927. The process of deciding about prophylactic surgery for breast and ovarian cancer: Patient questions, uncertainties, and communication. Am J Med Genet A. 2010 Jan; 152A(1):52-66. View Abstract
928. Novel loci interacting epistatically with bone morphogenetic protein receptor 2 cause familial pulmonary arterial hypertension. J Heart Lung Transplant. 2010 Feb; 29(2):174-80. View Abstract
929. Sex differences in the effects of inherited bitter thiourea sensitivity on body weight in 4-6-year-old children. Obesity (Silver Spring). 2010 Jun; 18(6):1194-200. View Abstract
930. Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age. J Interv Card Electrophysiol. 2009 Oct; 26(1):41-5. View Abstract
931. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2009 Jun 30; 54(1 Suppl):S32-S42. View Abstract
932. Gamma knife radiosurgery for the treatment of recurrent seizures after incomplete anterior temporal lobectomy. Seizure. 2009 Sep; 18(7):511-4. View Abstract
933. Epidemiologic investigation of a 2007 outbreak of Serratia marcescens bloodstream infection in Texas caused by contamination of syringes prefilled with heparin and saline. Infect Control Hosp Epidemiol. 2009 Jun; 30(6):593-5. View Abstract
934. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 2009 Jun; 29(6):560-9. View Abstract
935. Recipient genotype is a predictor of allograft cytokine expression and outcomes after pediatric cardiac transplantation. J Am Coll Cardiol. 2009 May 19; 53(20):1909-17. View Abstract
936. Polymorphism in the angiotensin II type 1 receptor (AGTR1) is associated with age at diagnosis in pulmonary arterial hypertension. J Heart Lung Transplant. 2009 Apr; 28(4):373-9. View Abstract
937. Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus. Pediatr Diabetes. 2009 Sep; 10(6):382-8. View Abstract
938. Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2. Neurobiol Dis. 2009 Mar; 33(3):499-508. View Abstract
939. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. Hum Hered. 2009; 67(3):193-205. View Abstract
940. Considerations regarding the genetics of obesity. Obesity (Silver Spring). 2008 Dec; 16 Suppl 3:S33-9. View Abstract
941. Functional consequences of the human leptin receptor (LEPR) Q223R transversion. Obesity (Silver Spring). 2009 Jan; 17(1):126-35. View Abstract
942. Oligonucleotide array CGH studies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis. Leuk Res. 2009 May; 33(5):662-4. View Abstract
943. Preimplantation genetic diagnosis on in vitro fertilization clinic websites: presentations of risks, benefits and other information. Fertil Steril. 2009 Oct; 92(4):1276-1283. View Abstract
944. Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome. Arch Pediatr Adolesc Med. 2008 Sep; 162(9):882-5. View Abstract
945. BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research. Breast Cancer Res Treat. 2009 Jul; 116(2):379-86. View Abstract
946. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science. 2008 Aug 29; 321(5893):1218-21. View Abstract
947. Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in mice. PLoS Genet. 2008 Jul 25; 4(7):e1000137. View Abstract
948. Regulation of Fto/Ftm gene expression in mice and humans. Am J Physiol Regul Integr Comp Physiol. 2008 Apr; 294(4):R1185-96. View Abstract
949. Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda. Reprod Biomed Online. 2008; 17 Suppl 1:33-42. View Abstract
950. Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing. Prenat Diagn. 2008 Jan; 28(1):11-4. View Abstract
951. A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. PLoS One. 2007 Dec 05; 2(12):e1258. View Abstract
952. A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance. Cardiovasc Res. 2008 Jan; 77(1):98-106. View Abstract
953. RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy. Hum Genet. 2007 Dec; 122(5):515-23. View Abstract
954. Implementation of genetics to personalize medicine. Gend Med. 2007 Sep; 4(3):248-65. View Abstract
955. A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences. Channels (Austin). 2007 Jul-Aug; 1(4):273-80. View Abstract
956. Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade. J Exp Med. 2007 Sep 03; 204(9):2131-44. View Abstract
957. Disclosures of Huntington disease risk within families: patterns of decision-making and implications. Am J Med Genet A. 2007 Aug 15; 143A(16):1835-49. View Abstract
958. Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. J Clin Endocrinol Metab. 2007 Oct; 92(10):4000-8. View Abstract
959. Decision-making about reproductive choices among individuals at-risk for Huntington's disease. J Genet Couns. 2007 Jun; 16(3):347-62. View Abstract
960. Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease. Cardiol Young. 2007 Jun; 17(3):268-74. View Abstract
961. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. View Abstract
962. Analysis of GNAS mutations in 60 growth hormone secreting pituitary tumors: correlation with clinical and pathological characteristics and surgical outcome based on highly sensitive GH and IGF-I criteria for remission. Pituitary. 2007; 10(3):275-82. View Abstract
963. Gene expression patterns in blood leukocytes discriminate patients with acute infections. Blood. 2007 Mar 01; 109(5):2066-77. View Abstract
964. Glucokinase mutations in young children with hyperglycemia. Diabetes Metab Res Rev. 2006 Sep-Oct; 22(5):348-55. View Abstract
965. The links between obesity, leptin, and prostate cancer. Cancer J. 2006 May-Jun; 12(3):178-81. View Abstract
966. The mahoganoid mutation (Mgrn1md) improves insulin sensitivity in mice with mutations in the melanocortin signaling pathway independently of effects on adiposity. Am J Physiol Endocrinol Metab. 2006 Sep; 291(3):E611-20. View Abstract
967. Analysis of significance patterns identifies ubiquitous and disease-specific gene-expression signatures in patient peripheral blood leukocytes. Ann N Y Acad Sci. 2005 Dec; 1062:146-54. View Abstract
968. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatr Dev Pathol. 2005 Nov-Dec; 8(6):706-9. View Abstract
969. Primary pediatric brain tumors: statistics of Taipei VGH, Taiwan (1975-2004). Cancer. 2005 Nov 15; 104(10):2156-67. View Abstract
970. Molecular physiology of syndromic obesities in humans. Trends Endocrinol Metab. 2005 Aug; 16(6):267-72. View Abstract
971. A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer. Prenat Diagn. 2005 Aug; 25(8):683-6. View Abstract
972. Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab. 2005 Jul; 90(7):4371-5. View Abstract
973. Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genet Med. 2005 Feb; 7(2):111-8. View Abstract
974. Gamma knife surgery for vestibular schwannoma: 10-year experience of 195 cases. J Neurosurg. 2005 Jan; 102 Suppl:87-96. View Abstract
975. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat. 2004 Oct; 24(4):312-20. View Abstract
976. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr; 14(4):253-60. View Abstract
977. Foamy podocytes. Am J Kidney Dis. 2003 Apr; 41(4):891-6. View Abstract
978. The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein. J Clin Invest. 2002 Nov; 110(10):1449-59. View Abstract
979. Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry. Nucleic Acids Res. 2002 Aug 15; 30(16):e85. View Abstract
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