Wendy Chung

Publications

1. Steroids, stress, and body mass index interact to accelerate female pubertal development. J Clin Endocrinol Metab. 2026 Aug 13; 111(9):2456-2465. View Abstract
2. RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR. medRxiv. 2026 Aug 07. View Abstract
3. KIF1A-Associated Neurological Disorder (KAND): Spectrum of Movement and Motor Disorders in a Cohort of 51 Patients. Mov Disord. 2026 Jul 25. View Abstract
4. Cross-species functional analysis of a de novo DCLK1 variant associated with a neurodevelopmental disorder. Res Sq. 2026 Jul 23. View Abstract
5. Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University. Pediatr Res. 2026 Jul 22. View Abstract
6. Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease. Res Sq. 2026 Jul 20. View Abstract
7. PRANA: A Deep Learning Method for Adapting Polygenic Risk Scores to Diverse Ethnic Groups. medRxiv. 2026 Jul 15. View Abstract
8. Perspectives on genomic newborn screening studies: design, implementation, and outcomes. Pediatr Res. 2026 Jul 13. View Abstract
9. Using a translational data platform to create clinical-grade genome-informed risk assessments. JAMIA Open. 2026 Aug; 9(4):ooag118. View Abstract
10. Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND). Genet Med. 2026 Jul 07; 102642. View Abstract
11. RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases. Genome Med. 2026 Jul 04. View Abstract
12. The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects. Res Sq. 2026 Jun 30. View Abstract
13. TimeX: Phenotype Onset Extraction from Clinical Narratives. Npj Health Syst. 2026; 3(1):49. View Abstract
14. Hard to Halt: Automation Bias in Agent-Driven Sequencing Prior Authorization Workflows. medRxiv. 2026 Jun 18. View Abstract
15. Preferences of research participants with experience receiving individual results for future return of results. J Clin Transl Sci. 2026; 10(1):e109. View Abstract
16. Genomics to enhance newborn screening? Genet Med. 2026 Jun 09; 28(8):102625. View Abstract
17. Fetal MRI reveals altered prenatal cortical surface area in fetuses later diagnosed with autism spectrum disorder. bioRxiv. 2026 Jun 02. View Abstract
18. Interpretable fine-tuned large language models facilitate making genetic test decisions for rare diseases. NPJ Digit Med. 2026 May 19; 9(1). View Abstract
19. Rare KDR Variants Define a Distinct Genetic Contribution to Congenital Heart Disease. Circ Genom Precis Med. 2026 Aug; 19(4):e005659. View Abstract
20. 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
21. 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
22. Exploring immediate responses to APOEe4/e4 genotype and Alzheimer's disease risk disclosure in Latinos. J Alzheimers Dis. 2026 05; 111(2):734-745. View Abstract
23. Homozygous Loss-of-Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities. Clin Genet. 2026 07; 110(1):64-72. View Abstract
24. Loss-of-function variants in MARK2 cause neurodevelopmental disorder. HGG Adv. 2026 Jul 09; 7(3):100600. View Abstract
25. 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
26. 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 Apr 02; 113(4):678-691. View Abstract
27. 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 Apr 02; 113(4):664-677. View Abstract
28. Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome). Clin Genet. 2026 08; 110(2):227-235. View Abstract
29. 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
30. Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement. Genet Med. 2026 05; 28(5):102551. View Abstract
31. Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification. medRxiv. 2026 Mar 06. View Abstract
32. 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
33. 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
34. Interpretable Fine-tuned Large Language Models Facilitate Making Genetic Test Decisions for Rare Diseases. medRxiv. 2026 Mar 02. View Abstract
35. Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice. bioRxiv. 2026 Feb 26. View Abstract
36. 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
37. Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. HGG Adv. 2026 Apr 09; 7(2):100582. View Abstract
38. Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits. Brain. 2026 Feb 17. View Abstract
39. 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
40. Dysregulated TGFß-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis. bioRxiv. 2026 Jan 20. View Abstract
41. MYRF controls mesothelium specification, signaling, and plasticity in lung development. Dev Cell. 2026 Mar 11; 61(3):536-552.e4. View Abstract
42. Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro. Nat Commun. 2026 Jan 09; 17(1):1109. View Abstract
43. Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. Nat Cardiovasc Res. 2026 Jan; 5(1):51-66. View Abstract
44. Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies. Res Sq. 2025 Dec 30. View Abstract
45. Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis. Res Sq. 2025 Dec 30. View Abstract
46. 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
47. 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
48. Healthcare professionals' experiences returning monogenic, polygenic, and integrated risk results in the eMERGE study. HGG Adv. 2026 Jan 15; 7(1):100554. View Abstract
49. 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
50. Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO). Bone. 2026 03; 204:117744. View Abstract
51. 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
52. 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
53. 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
54. 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
55. Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome. Circ Genom Precis Med. 2025 Dec; 18(6):e005231. View Abstract
56. Impact of genomic sequencing information on physicians' treatment recommendations for children with congenital heart disease. Genet Med Open. 2025; 3:103470. View Abstract
57. Digital health technology use in clinical trials of rare diseases: a systematic review. Commun Med (Lond). 2025 Oct 31; 5(1):449. View Abstract
58. 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
59. 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
60. 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
61. 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
62. Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies. Res Sq. 2025 Oct 17. View Abstract
63. A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report. Case Rep Genet. 2025; 2025:4041217. View Abstract
64. Toward Same-Day Genome Sequencing in the Critical Care Setting. N Engl J Med. 2025 Nov 20; 393(20):2063-2065. View Abstract
65. Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy. J Clin Invest. 2025 12 01; 135(23). View Abstract
66. 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
67. 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
68. 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
69. LONP1 Variants Are Associated With Clinically Diverse Phenotypes. Clin Genet. 2026 03; 109(3):437-457. View Abstract
70. 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
71. SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons. Brain. 2025 Sep 03; 148(9):3300-3313. View Abstract
72. 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
73. 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
74. Machine learning-based penetrance of genetic variants. Science. 2025 Aug 28; 389(6763):eadm7066. View Abstract
75. 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
76. Mitochondrial Lon Peptidase 1 Controls Diaphragm and Lung Development in a Context-Dependent Manner. J Respir Biol Transl Med. 2025; 2(3). View Abstract
77. 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
78. RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation. Res Sq. 2025 Aug 11. View Abstract
79. A Pilot Meta-Research on Evolving Evidence Behind Genetic Variant (Re)Classification. Stud Health Technol Inform. 2025 Aug 07; 329:108-112. View Abstract
80. 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
81. 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
82. Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder. Clin Genet. 2026 02; 109(2):233-242. View Abstract
83. Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery. Nat Commun. 2025 Jul 10; 16(1):6365. View Abstract
84. 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
85. Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease. HGG Adv. 2025 Oct 09; 6(4):100478. View Abstract
86. A Pilot Meta-research on Evolving Evidence Behind Genetic Variant (Re)Classification. medRxiv. 2025 Jul 03. View Abstract
87. 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
88. Using large-scale population-based data to improve disease risk assessment of clinical variants. Nat Genet. 2025 Jul; 57(7):1588-1597. View Abstract
89. Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study. medRxiv. 2025 May 23. View Abstract
90. 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
91. Prenatal genomic sequencing: Navigating uncertainty. Semin Perinatol. 2025 Apr; 49(3):152058. View Abstract
92. 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
93. Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation. Genet Med. 2025 Aug; 27(8):101457. View Abstract
94. Understanding speech and language in KIF1A-associated neurological disorder. Eur J Hum Genet. 2026 01; 34(1):78-89. View Abstract
95. Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genet Med. 2025 Jul; 27(7):101443. View Abstract
96. 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
97. Opportunities and Challenges of Fetal Gene Therapy. Prenat Diagn. 2025 06; 45(6):764-771. View Abstract
98. 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
99. Genomic newborn screening: exploring opportunities and navigating pitfalls while ensuring inclusivity. Trends Genet. 2025 08; 41(8):631-634. View Abstract
100. Understanding individualised genetic interventions as research-treatment hybrids. J Med Ethics. 2025 04 24; 51(5). View Abstract
101. 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
102. A probabilistic graphical model for estimating selection coefficient of nonsynonymous variants from human population sequence data. medRxiv. 2025 Apr 11. View Abstract
103. Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder. Brain. 2025 Apr 03; 148(4):1194-1211. View Abstract
104. The new newborn screening. Nat Med. 2025 Apr; 31(4):1075-1076. View Abstract
105. Efficient identification of de novo mutations in family trios: a consensus-based informatic approach. Life Sci Alliance. 2025 06; 8(6). View Abstract
106. Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism. J Mol Diagn. 2025 Jun; 27(6):525-537. View Abstract
107. Newborn Screening Using Genome Sequencing for Early Actionable Conditions-Reply. JAMA. 2025 Mar 25; 333(12):1088. View Abstract
108. 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
109. A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles. JCI Insight. 2025 04 22; 10(8). View Abstract
110. 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
111. Systematic method for classifying multiple congenital anomaly cases in electronic health records. Genet Med. 2025 Jun; 27(6):101415. View Abstract
112. 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
113. GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. Elife. 2025 Mar 13; 13. View Abstract
114. 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
115. Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis. J Am Heart Assoc. 2025 03 04; 14(5):e036860. View Abstract
116. Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease. Med Image Anal. 2025 05; 102:103538. View Abstract
117. 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
118. 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
119. MYRF is Essential in Mesothelial Cells to Promote Lung Development and Maturation. bioRxiv. 2025 Feb 14. View Abstract
120. 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
121. Comparison of autism domains across thirty rare variant genotypes. EBioMedicine. 2025 Feb; 112:105521. View Abstract
122. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025 Apr; 27(4):101369. View Abstract
123. Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. bioRxiv. 2025 Jan 28. View Abstract
124. Risk factors affecting polygenic score performance across diverse cohorts. Elife. 2025 Jan 24; 12. View Abstract
125. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA. 2025 01 21; 333(3):232-240. View Abstract
126. Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. medRxiv. 2025 Jan 17. View Abstract
127. GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. bioRxiv. 2025 Jan 11. View Abstract
128. 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
129. 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
130. 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
131. DNA Sequencing in Newborn Screening: Opportunities, Challenges, and Future Directions. Clin Chem. 2025 Jan 03; 71(1):77-86. View Abstract
132. 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
133. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience. 2025 Feb 21; 28(2):111707. View Abstract
134. 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
135. 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
136. Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesis. bioRxiv. 2024 Dec 02. View Abstract
137. SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. J Pediatr. 2025 03; 278:114422. View Abstract
138. 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
139. Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. NPJ Digit Med. 2024 Nov 21; 7(1):333. View Abstract
140. Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery. medRxiv. 2024 Nov 15. View Abstract
141. 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
142. Motor phenotypes associated with genetic neurodevelopmental disorders. Ann Clin Transl Neurol. 2024 12; 11(12):3238-3245. View Abstract
143. Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency. JAMA Otolaryngol Head Neck Surg. 2024 Nov 01; 150(11):1038-1039. View Abstract
144. Genetics and precision genomics approaches to pulmonary hypertension. Eur Respir J. 2024 Oct; 64(4). View Abstract
145. Universal newborn screening using genome sequencing: early experience from the GUARDIAN study. Pediatr Res. 2025 Mar; 97(4):1315-1319. View Abstract
146. Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis. Sci Transl Med. 2024 10 16; 16(769):eadj0085. View Abstract
147. 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
148. 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
149. Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension. bioRxiv. 2024 Sep 22. View Abstract
150. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251. View Abstract
151. PLCG2 variants in cherubism. J Allergy Clin Immunol. 2024 Dec; 154(6):1554-1558. View Abstract
152. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. EBioMedicine. 2024 Sep; 107:105297. View Abstract
153. 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
154. Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder. Clin Genet. 2025 01; 107(1):34-43. View Abstract
155. Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Nat Med. 2024 Oct; 30(10):2782-2786. View Abstract
156. 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
157. 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
158. 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
159. Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT. J Biomed Inform. 2024 09; 157:104702. View Abstract
160. Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND). Am J Ophthalmol. 2024 Dec; 268:247-257. View Abstract
161. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Clin Genet. 2024 11; 106(5):574-584. View Abstract
162. Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay. Clin Kidney J. 2024 Aug; 17(8):sfae211. View Abstract
163. Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Neuroimage. 2024 08 15; 297:120721. View Abstract
164. Return of genetic research results in 21,532 individuals with autism. Genet Med. 2024 10; 26(10):101202. View Abstract
165. SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clin Genet. 2024 10; 106(4):448-461. View Abstract
166. 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
167. Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. J Clin Invest. 2024 06 17; 134(12). View Abstract
168. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 06 06; 390(21):1985-1997. View Abstract
169. Promoting equity in clinical research: The role of social determinants of health. J Biomed Inform. 2024 08; 156:104663. View Abstract
170. 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
171. Pathogenic PHIP Variants are Variably Associated With CAKUT. Kidney Int Rep. 2024 Aug; 9(8):2484-2497. View Abstract
172. 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 08; 26(8):101169. View Abstract
173. Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs. Pediatr Cardiol. 2025 Apr; 46(4):798-803. View Abstract
174. Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder. medRxiv. 2024 May 05. View Abstract
175. 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
176. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Eur J Hum Genet. 2024 08; 32(8):928-937. View Abstract
177. Motor difficulties in 16p11.2 copy number variation. Autism Res. 2024 05; 17(5):906-916. View Abstract
178. GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts. ArXiv. 2024 Apr 22. View Abstract
179. 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
180. An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders. Int J Neonatal Screen. 2024 Apr 16; 10(2). View Abstract
181. 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
182. Risk factors affecting polygenic score performance across diverse cohorts. medRxiv. 2024 Apr 10. View Abstract
183. Improvement of variant reclassification in genetic neurodevelopmental conditions. Genet Med Open. 2024; 2:101845. View Abstract
184. 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
185. 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
186. 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
187. Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder. Gait Posture. 2024 05; 110:77-83. View Abstract
188. 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 07; 26(7):101125. View Abstract
189. Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach. bioRxiv. 2024 Mar 13. View Abstract
190. 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
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275. 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
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300. Development of Competency-based Online Genomic Medicine Training (COGENT). Per Med. 2023 01; 20(1):55-64. View Abstract
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306. 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
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308. 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
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310. 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
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316. 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
317. 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
318. 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
319. 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
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327. 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
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330. 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
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373. Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation. 2022 03 22; 145(12):877-891. View Abstract
374. Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia. Eur J Pediatr Surg. 2021 Dec; 31(6):472-481. View Abstract
375. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2022 02; 43(2):266-282. View Abstract
376. Recreational Physical Activity and Outcomes After Breast Cancer in Women at High Familial Risk. JNCI Cancer Spectr. 2021 12; 5(6). View Abstract
377. 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
378. 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
379. Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder. Res Dev Disabil. 2021 Dec; 119:104110. View Abstract
380. 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
381. 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
382. 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
383. 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
384. Neurodevelopmental profile of HIVEP2-related disorder. Dev Med Child Neurol. 2022 05; 64(5):654-661. View Abstract
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386. Imputing cognitive impairment in SPARK, a large autism cohort. Autism Res. 2022 01; 15(1):156-170. View Abstract
387. 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
388. Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue. Nat Med. 2021 10; 27(10):1701-1711. View Abstract
389. 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
390. 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
391. Reimbursement for genetic variant reinterpretation: five questions payers should ask. Am J Manag Care. 2021 10 01; 27(10):e336-e338. View Abstract
392. A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. N Engl J Med. 2021 09 30; 385(14):1292-1301. View Abstract
393. 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
394. 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
395. Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes. Genome Med. 2021 09 09; 13(1):147. View Abstract
396. 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
397. Gene expression atlas of energy balance brain regions. JCI Insight. 2021 08 23; 6(16). View Abstract
398. 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
399. 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
400. 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
401. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence. Elife. 2021 08 03; 10. View Abstract
402. 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
403. 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
404. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1. Cold Spring Harb Mol Case Stud. 2021 08; 7(4). View Abstract
405. 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
406. Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. J Med Genet. 2022 07; 59(7):669-677. View Abstract
407. 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
408. 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
409. Clinical and genomic characterization of 8p cytogenomic disorders. Genet Med. 2021 12; 23(12):2342-2351. View Abstract
410. Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment. Amino Acids. 2022 Apr; 54(4):485-499. View Abstract
411. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 10; 23(10):1838-1846. View Abstract
412. 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
413. Case Report: Esophageal Bronchus in a Neonate, With Image, Histological, and Molecular Analysis. Front Pediatr. 2021; 9:707822. View Abstract
414. 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
415. Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication. Transl Psychiatry. 2021 Jun 18; 11(1):372. View Abstract
416. 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
417. 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
418. 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
419. 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
420. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genet Med. 2021 09; 23(9):1624-1635. View Abstract
421. Developmental basis of trachea-esophageal birth defects. Dev Biol. 2021 09; 477:85-97. View Abstract
422. 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
423. 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
424. 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
425. Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1. J Med Genet. 2022 06; 59(6):536-543. View Abstract
426. 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
427. 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
428. Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection. Genet Med. 2021 09; 23(9):1783-1788. View Abstract
429. Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network. JNCI Cancer Spectr. 2021 08; 5(4). View Abstract
430. 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
431. 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
432. Common Childhood Viruses and Pubertal Timing: The LEGACY Girls Study. Am J Epidemiol. 2021 05 04; 190(5):766-778. View Abstract
433. 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
434. 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
435. 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
436. 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
437. Reproductive decision-making in families containing multiple individuals with epilepsy. Epilepsia. 2021 05; 62(5):1220-1230. View Abstract
438. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr; 23(4):796. View Abstract
439. 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
440. Response to Li and Hopper. Am J Hum Genet. 2021 03 04; 108(3):527-529. View Abstract
441. 16p11.2 deletion syndrome. Curr Opin Genet Dev. 2021 06; 68:49-56. View Abstract
442. 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
443. 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
444. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Circ Res. 2021 04 16; 128(8):1156-1169. View Abstract
445. Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress. Autism Res. 2021 06; 14(6):1209-1219. View Abstract
446. The psychiatric phenotypes of 1q21 distal deletion and duplication. Transl Psychiatry. 2021 02 04; 11(1):105. View Abstract
447. Applying artificial intelligence to longitudinal imaging analysis of vestibular schwannoma following radiosurgery. Sci Rep. 2021 02 04; 11(1):3106. View Abstract
448. Prepubertal Internalizing Symptoms and Timing of Puberty Onset in Girls. Am J Epidemiol. 2021 02 01; 190(3):431-438. View Abstract
449. 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
450. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. Neurol Genet. 2021 Feb; 7(1):e551. View Abstract
451. MVP predicts the pathogenicity of missense variants by deep learning. Nat Commun. 2021 01 21; 12(1):510. View Abstract
452. 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
453. 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
454. Does the law require reinterpretation and return of revised genomic results? Genet Med. 2021 05; 23(5):833-836. View Abstract
455. 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
456. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 01 06; 29(21):3516-3531. View Abstract
457. 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
458. 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
459. 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
460. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Circ Genom Precis Med. 2020 Dec 15. View Abstract
461. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 04; 23(4):653-660. View Abstract
462. 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
463. 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
464. Common germline-somatic variant interactions in advanced urothelial cancer. Nat Commun. 2020 12 03; 11(1):6195. View Abstract
465. 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
466. 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
467. 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
468. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clin Genet. 2021 02; 99(2):313-317. View Abstract
469. Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS Genet. 2020 11; 16(11):e1009189. View Abstract
470. Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism". Ann Neurol. 2021 01; 89(1):195-196. View Abstract
471. Dysphagia in a Young Man. Case Rep Neurol. 2020 Sep-Dec; 12(3):410-415. View Abstract
472. 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
473. 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
474. Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies. Neuron. 2021 01 06; 109(1):59-72.e5. View Abstract
475. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 11; 19(11):908-918. View Abstract
476. 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
477. 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
478. 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
479. Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks. Front Neurosci. 2020; 14:562292. View Abstract
480. 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
481. Exome sequencing and characterization of 49,960 individuals in the UK Biobank. Nature. 2020 10; 586(7831):749-756. View Abstract
482. Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension. Genes (Basel). 2020 10 16; 11(10). View Abstract
483. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. Elife. 2020 10 15; 9. View Abstract
484. 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
485. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort. J Autism Dev Disord. 2020 Oct; 50(10):3679-3698. View Abstract
486. 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
487. 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
488. 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
489. Genetic Variant Reinterpretation: Economic and Population Health Management Challenges. Popul Health Manag. 2021 06; 24(3):310-313. View Abstract
490. Response to Faulkner et al. Genet Med. 2021 01; 23(1):243. View Abstract
491. 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
492. Genetic Basis of Human Congenital Heart Disease. Cold Spring Harb Perspect Biol. 2020 09 01; 12(9). View Abstract
493. United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics. Chest. 2021 01; 159(1):311-327. View Abstract
494. 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
495. 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
496. Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. Ann Neurol. 2020 11; 88(5):1028-1033. View Abstract
497. Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. Am J Hum Genet. 2020 09 03; 107(3):432-444. View Abstract
498. 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
499. 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
500. 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
501. 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
502. 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
503. Participant choices for return of genomic results in the eMERGE Network. Genet Med. 2020 11; 22(11):1821-1829. View Abstract
504. 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
505. Language characterization in 16p11.2 deletion and duplication syndromes. Am J Med Genet B Neuropsychiatr Genet. 2020 09; 183(6):380-391. View Abstract
506. Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. Eur J Hum Genet. 2021 01; 29(1):122-130. View Abstract
507. 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
508. 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
509. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet. 2020 08; 52(8):769-777. View Abstract
510. 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
511. 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
512. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 09; 41(9):1577-1587. View Abstract
513. Pediatric genetics: rare is common. Cold Spring Harb Mol Case Stud. 2020 06; 6(3). View Abstract
514. COVID-19's Impact on Genetics at One Medical Center in New York. Genet Med. 2020 09; 22(9):1467-1469. View Abstract
515. 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
516. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genet Med. 2020 08; 22(8):1296-1302. View Abstract
517. 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
518. Recent insights into peroxisome biogenesis and associated diseases. J Cell Sci. 2020 05 11; 133(9). View Abstract
519. Clinical outcome following cerebral AVM hemorrhage. Acta Neurochir (Wien). 2020 07; 162(7):1759-1766. View Abstract
520. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. View Abstract
521. 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
522. The polygenic architecture of left ventricular mass mirrors the clinical epidemiology. Sci Rep. 2020 05 05; 10(1):7561. View Abstract
523. Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595. View Abstract
524. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Med. 2020 04 29; 12(1):42. View Abstract
525. Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. J Pers Med. 2020 Apr 27; 10(2). View Abstract
526. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet. 2020 06; 21(6):367-376. View Abstract
527. A qualitative study of Latinx parents' experiences of clinical exome sequencing. J Genet Couns. 2020 08; 29(4):574-586. View Abstract
528. 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
529. 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
530. 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
531. Two Novel PNLIP Mutations Causing Congenital Lipase Deficiency in Identical Twin Boys. J Pediatr Gastroenterol Nutr. 2020 04; 70(4):e85-e86. View Abstract
532. Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders. Pediatr Res. 2020 11; 88(5):761-768. View Abstract
533. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet. 2020 04 02; 106(4):467-483. View Abstract
534. Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension. Circulation. 2020 06 16; 141(24):1986-2000. View Abstract
535. 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
536. 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
537. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol. 2020 07; 44(5):442-468. View Abstract
538. Pneumonia in Parkinson's disease: barium aspiration in videofluoroscopic swallowing study. Respirol Case Rep. 2020 Apr; 8(3):e00546. View Abstract
539. 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
540. 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
541. 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
542. Radiomics as prognostic factor in brain metastases treated with Gamma Knife radiosurgery. J Neurooncol. 2020 Feb; 146(3):439-449. View Abstract
543. Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension. Chest. 2020 05; 157(5):1287-1295. View Abstract
544. 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
545. Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. Pediatr Pulmonol. 2021 03; 56(3):614-620. View Abstract
546. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020 01; 52(1):56-73. View Abstract
547. Can Clinical Genetics Laboratories be Sued for Medical Malpractice? Ann Health Law Life Sci. 2020; 29(1):153-172. View Abstract
548. The genetics of isolated congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):97-106. View Abstract
549. Gamma Knife radiosurgery for cerebral cavernous malformation. Sci Rep. 2019 12 24; 9(1):19743. View Abstract
550. 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
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558. 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
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567. 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
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576. Applying Deep Neural Network Analysis to High-Content Image-Based Assays. SLAS Discov. 2019 09; 24(8):829-841. View Abstract
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580. 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
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584. 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
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593. 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
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624. 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
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628. 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
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647. 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
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654. 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
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737. 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
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739. 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
740. 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
741. The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History. Epidemiology. 2016 May; 27(3):438-48. View Abstract
742. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nat Commun. 2016 04 27; 7:11375. View Abstract
743. 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
744. 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
745. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 07; 135(7):699-705. View Abstract
746. 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
747. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 07; 17(3):159-64. View Abstract
748. 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
749. SCARB2 variants and glucocerebrosidase activity in Parkinson's disease. NPJ Parkinsons Dis. 2016; 2. View Abstract
750. 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
751. A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services. Pediatrics. 2016 Feb; 137(2):e20143874. View Abstract
752. 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
753. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan; 73(1):20-30. View Abstract
754. 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
755. 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
756. Parents' interest in genetic testing of their offspring in multiplex epilepsy families. Epilepsia. 2016 Feb; 57(2):279-87. View Abstract
757. 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
758. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6. View Abstract
759. Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016 07; 18(7):696-704. View Abstract
760. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan; 17(1):43-9. View Abstract
761. 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
762. Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society. Circulation. 2015 Nov 24; 132(21):2037-99. View Abstract
763. 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
764. Psychosocial Adjustment in School-age Girls With a Family History of Breast Cancer. Pediatrics. 2015 Nov; 136(5):927-37. View Abstract
765. Gamma Knife Radiosurgery for Atypical and Anaplastic Meningiomas. World Neurosurg. 2016 Mar; 87:557-64. View Abstract
766. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec; 36(12):1113-27. View Abstract
767. 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
768. 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
769. De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000455. View Abstract
770. Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice. Pediatrics. 2015 Oct; 136(4):e974-82. View Abstract
771. 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
772. 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
773. 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
774. Genetic causal attribution of epilepsy and its implications for felt stigma. Epilepsia. 2015 Oct; 56(10):1542-50. View Abstract
775. Mutations in ARID2 are associated with intellectual disabilities. Neurogenetics. 2015 Oct; 16(4):307-14. View Abstract
776. Abnormal auditory and language pathways in children with 16p11.2 deletion. Neuroimage Clin. 2015; 9:50-7. View Abstract
777. 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
778. 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
779. 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
780. Cohort Profile: The Breast Cancer Prospective Family Study Cohort (ProF-SC). Int J Epidemiol. 2016 06; 45(3):683-92. View Abstract
781. 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
782. Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. Brain. 2015 Sep; 138(Pt 9):2648-58. View Abstract
783. Clinical phenotype of the recurrent 1q21.1 copy-number variant. Genet Med. 2016 Apr; 18(4):341-9. View Abstract
784. 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
785. 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
786. Evaluation of the CAV1 gene in clinically, sonographically and histologically proven morphea patients. Exp Dermatol. 2015 Sep; 24(9):718-20. View Abstract
787. 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
788. 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
789. Gamma Knife radiosurgery for facial nerve schwannomas: a multicenter study. J Neurosurg. 2015 Aug; 123(2):387-94. View Abstract
790. 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
791. 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
792. 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
793. 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
794. 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
795. 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
796. 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
797. 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
798. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science. 2015 Mar 27; 347(6229):1436-41. View Abstract
799. The association between congenital diaphragmatic hernia and undescended testes. J Pediatr Surg. 2015 May; 50(5):744-5. View Abstract
800. 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
801. Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. Clin Case Rep. 2015 Apr; 3(4):237-9. View Abstract
802. 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
803. 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
804. 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
805. Spectrum of neuropathophysiology in spinal muscular atrophy type I. J Neuropathol Exp Neurol. 2015 Jan; 74(1):15-24. View Abstract
806. The authors reply. Hastings Cent Rep. 2015 Jan-Feb; 45(1):4. View Abstract
807. Researchers' views on informed consent for return of secondary results in genomic research. Genet Med. 2015 Aug; 17(8):644-50. View Abstract
808. Gamma Knife surgery for craniopharyngioma: report on a 20-year experience. J Neurosurg. 2014 Dec; 121 Suppl:167-78. View Abstract
809. 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
810. Should life insurers have access to genetic test results? JAMA. 2014 Nov 12; 312(18):1855-6. View Abstract
811. When to offer genetic testing for pulmonary arterial hypertension. Can J Cardiol. 2015 Apr; 31(4):544-7. View Abstract
812. 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
813. 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
814. Genetics of pulmonary hypertension. Curr Opin Cardiol. 2014 Nov; 29(6):520-7. View Abstract
815. Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014 Dec; 19(6):324-30. View Abstract
816. 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
817. 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
818. [Genetics and genomics of pulmonary arterial hypertension]. Turk Kardiyol Dern Ars. 2014 Oct; 42 Suppl 1:17-28. View Abstract
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820. Genetic testing preferences in families containing multiple individuals with epilepsy. Epilepsia. 2014 Nov; 55(11):1705-13. View Abstract
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825. Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes. Pediatr Diabetes. 2015 May; 16(3):227-33. View Abstract
826. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014 Aug 26; 83(9):810-7. View Abstract
827. 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
828. 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
829. 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
830. Views of preimplantation genetic diagnosis among psychiatrists and neurologists. J Reprod Med. 2014 Jul-Aug; 59(7-8):385-92. View Abstract
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833. Models of consent to return of incidental findings in genomic research. Hastings Cent Rep. 2014 Jul-Aug; 44(4):22-32. View Abstract
834. The usefulness of whole-exome sequencing in routine clinical practice. Genet Med. 2014 Dec; 16(12):922-31. View Abstract
835. Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol. 2014 Jun; 71(6):752-7. View Abstract
836. 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
837. 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
838. 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
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840. Aberrant white matter microstructure in children with 16p11.2 deletions. J Neurosci. 2014 Apr 30; 34(18):6214-23. View Abstract
841. CANOES: detecting rare copy number variants from whole exome sequencing data. Nucleic Acids Res. 2014 Jul; 42(12):e97. View Abstract
842. 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
843. 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
844. 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
845. The effect of cardiac genetic testing on psychological well-being and illness perceptions. Heart Lung. 2014 Mar-Apr; 43(2):127-32. View Abstract
846. Pertussis: a persistent cause of morbidity and mortality in young infants. J Pediatr. 2014 Jun; 164(6):1489-92.e1. View Abstract
847. EIF2AK4 mutations in pulmonary capillary hemangiomatosis. Chest. 2014 Feb; 145(2):231-236. View Abstract
848. Dilated cardiomyopathy due to a phospholamban duplication. Cardiol Young. 2014 Oct; 24(5):953-4. View Abstract
849. 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
850. The genetic basis of pulmonary arterial hypertension. Hum Genet. 2014 May; 133(5):471-9. View Abstract
851. 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
852. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2013 Dec 24; 62(25 Suppl):D13-21. View Abstract
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854. Clinical features of West Nile virus epidemic in Dallas, Texas, 2012. Diagn Microbiol Infect Dis. 2014 Feb; 78(2):132-6. View Abstract
855. 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
856. Informed consent for return of incidental findings in genomic research. Genet Med. 2014 May; 16(5):367-73. View Abstract
857. Weight loss after bariatric surgery in morbidly obese adolescents with MC4R mutations. Obesity (Silver Spring). 2014 Jan; 22(1):225-31. View Abstract
858. 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
859. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat. 2013 Dec; 34(12):1632-41. View Abstract
860. Novel association of early onset hepatocellular carcinoma with transaldolase deficiency. JIMD Rep. 2014; 12:121-7. View Abstract
861. Developmental outcomes of children with congenital diaphragmatic hernia: a multicenter prospective study. J Pediatr Surg. 2013 Oct; 48(10):1995-2004. View Abstract
862. Processes and factors involved in decisions regarding return of incidental genomic findings in research. Genet Med. 2014 Apr; 16(4):311-7. View Abstract
863. 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
864. Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability. Rare Dis. 2013; 1:e26314. View Abstract
865. Defining a comprehensive verotype using electronic health records for personalized medicine. J Am Med Inform Assoc. 2013 Dec; 20(e2):e232-8. View Abstract
866. 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
867. A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice. Rare Dis. 2013; 1:e26144. View Abstract
868. Genetic loss of SH2B3 in acute lymphoblastic leukemia. Blood. 2013 Oct 03; 122(14):2425-32. View Abstract
869. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med. 2013 Jul 25; 369(4):351-361. View Abstract
870. Return of secondary genomic findings vs patient autonomy: implications for medical care. JAMA. 2013 Jul 24; 310(4):369-70. View Abstract
871. Incidental findings in the era of whole genome sequencing? Hastings Cent Rep. 2013 Jul-Aug; 43(4):16-9. View Abstract
872. Researchers' views on return of incidental genomic research results: qualitative and quantitative findings. Genet Med. 2013 Nov; 15(11):888-95. View Abstract
873. 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
874. iPSC-derived ß cells model diabetes due to glucokinase deficiency. J Clin Invest. 2013 07; 123(7):3146-53. View Abstract
875. 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
876. Knowledge of and interest in genetic results among Parkinson disease patients and caregivers. J Genet Couns. 2014 Feb; 23(1):114-20. View Abstract
877. 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
878. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet. 2013 Jun 06; 92(6):996-1000. View Abstract
879. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 2013 Jun 13; 498(7453):220-3. View Abstract
880. 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
881. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77. View Abstract
882. 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
883. 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
884. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013; 8(4):e60113. View Abstract
885. 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
886. Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. Nat Genet. 2013 May; 45(5):518-21. View Abstract
887. 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
888. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res. 2013 Feb 15; 112(4):698-706. View Abstract
889. Outcomes of congenital diaphragmatic hernia in the modern era of management. J Pediatr. 2013 Jul; 163(1):114-9.e1. View Abstract
890. 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
891. Cancer genetic counselor information needs for risk communication: a qualitative evaluation of interview transcripts. J Pers Med. 2013; 3(3). View Abstract
892. 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
893. Views of internists towards uses of PGD. Reprod Biomed Online. 2013 Feb; 26(2):142-7. View Abstract
894. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012 Dec 07; 91(6):987-97. View Abstract
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896. 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
897. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012 Oct 30; 79(18):1889-97. View Abstract
898. 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
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900. How fast can a choroid plexus papilloma grow? J Formos Med Assoc. 2014 Aug; 113(8):569-70. View Abstract
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902. Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations. Laryngoscope. 2012 Sep; 122(9):2082-7. View Abstract
903. 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
904. Attitudes and practices among internists concerning genetic testing. J Genet Couns. 2013 Feb; 22(1):90-100. View Abstract
905. 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
906. 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
907. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. View Abstract
908. 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
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910. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol. 2011 Dec; 70(6):996-1005. View Abstract
911. 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
912. 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
913. Novel SLC39A4 mutation in acrodermatitis enteropathica. Pediatr Dermatol. 2011 Nov-Dec; 28(6):697-700. View Abstract
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915. An overview of mongenic and syndromic obesities in humans. Pediatr Blood Cancer. 2012 Jan; 58(1):122-8. View Abstract
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917. 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
918. Intragenic deletion as a novel type of mutation in Wolman disease. Mol Genet Metab. 2011 Dec; 104(4):703-5. View Abstract
919. 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
920. 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
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923. Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease. JIMD Rep. 2011; 1:79-82. View Abstract
924. 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
925. Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. Circulation. 2011 May 31; 123(21):2353-62. View Abstract
926. 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
927. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol. 2011 May; 44(5):317-27. View Abstract
928. 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
929. 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
930. Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death. Cardiol Young. 2011 Jun; 21(3):345-8. View Abstract
931. 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
932. Global DNA methylation levels in girls with and without a family history of breast cancer. Epigenetics. 2011 Jan; 6(1):29-33. View Abstract
933. 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
934. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol. 2010 Dec; 68(6):955-8. View Abstract
935. 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
936. 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
937. 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
938. 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
939. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010 Aug; 6(8):445-53. View Abstract
940. Enalapril in infants with single ventricle: results of a multicenter randomized trial. Circulation. 2010 Jul 27; 122(4):333-40. View Abstract
941. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010 Jul; 12(7):446-63. View Abstract
942. 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
943. 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
944. 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
945. 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
946. 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
947. 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
948. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2009 Jun 30; 54(1 Suppl):S32-S42. View Abstract
949. Gamma knife radiosurgery for the treatment of recurrent seizures after incomplete anterior temporal lobectomy. Seizure. 2009 Sep; 18(7):511-4. View Abstract
950. 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
951. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 2009 Jun; 29(6):560-9. View Abstract
952. 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
953. 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
954. 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
955. Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2. Neurobiol Dis. 2009 Mar; 33(3):499-508. View Abstract
956. 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
957. Considerations regarding the genetics of obesity. Obesity (Silver Spring). 2008 Dec; 16 Suppl 3:S33-9. View Abstract
958. Functional consequences of the human leptin receptor (LEPR) Q223R transversion. Obesity (Silver Spring). 2009 Jan; 17(1):126-35. View Abstract
959. 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
960. 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
961. 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
962. 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
963. 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
964. 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
965. 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
966. Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda. Reprod Biomed Online. 2008; 17 Suppl 1:33-42. View Abstract
967. 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
968. 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
969. 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
970. RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy. Hum Genet. 2007 Dec; 122(5):515-23. View Abstract
971. Implementation of genetics to personalize medicine. Gend Med. 2007 Sep; 4(3):248-65. View Abstract
972. 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
973. 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
974. 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
975. 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
976. Decision-making about reproductive choices among individuals at-risk for Huntington's disease. J Genet Couns. 2007 Jun; 16(3):347-62. View Abstract
977. 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
978. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. View Abstract
979. 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
980. Gene expression patterns in blood leukocytes discriminate patients with acute infections. Blood. 2007 Mar 01; 109(5):2066-77. View Abstract
981. Glucokinase mutations in young children with hyperglycemia. Diabetes Metab Res Rev. 2006 Sep-Oct; 22(5):348-55. View Abstract
982. The links between obesity, leptin, and prostate cancer. Cancer J. 2006 May-Jun; 12(3):178-81. View Abstract
983. 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
984. 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
985. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatr Dev Pathol. 2005 Nov-Dec; 8(6):706-9. View Abstract
986. Primary pediatric brain tumors: statistics of Taipei VGH, Taiwan (1975-2004). Cancer. 2005 Nov 15; 104(10):2156-67. View Abstract
987. Molecular physiology of syndromic obesities in humans. Trends Endocrinol Metab. 2005 Aug; 16(6):267-72. View Abstract
988. 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
989. 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
990. Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genet Med. 2005 Feb; 7(2):111-8. View Abstract
991. Gamma knife surgery for vestibular schwannoma: 10-year experience of 195 cases. J Neurosurg. 2005 Jan; 102 Suppl:87-96. View Abstract
992. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat. 2004 Oct; 24(4):312-20. View Abstract
993. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr; 14(4):253-60. View Abstract
994. Foamy podocytes. Am J Kidney Dis. 2003 Apr; 41(4):891-6. View Abstract
995. The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein. J Clin Invest. 2002 Nov; 110(10):1449-59. View Abstract
996. 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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