Wendy Chung

Publications

1. A probabilistic graphical model for estimating selection coefficient of missense variants from human population sequence data. medRxiv. 2025 Apr 11. View Abstract
2. Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder. Brain. 2025 Apr 03; 148(4):1194-1211. View Abstract
3. Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy. Brain. 2025 Feb 21. View Abstract
4. Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data. Am J Hum Genet. 2025 Mar 06; 112(3):583-598. View Abstract
5. MYRF is Essential in Mesothelial Cells to Promote Lung Development and Maturation. bioRxiv. 2025 Feb 14. View Abstract
6. 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
7. Comparison of autism domains across thirty rare variant genotypes. EBioMedicine. 2025 Feb; 112:105521. View Abstract
8. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025 Apr; 27(4):101369. View Abstract
9. Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. bioRxiv. 2025 Jan 28. View Abstract
10. Risk factors affecting polygenic score performance across diverse cohorts. Elife. 2025 Jan 24; 12. View Abstract
11. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA. 2025 01 21; 333(3):232-240. View Abstract
12. Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. medRxiv. 2025 Jan 17. View Abstract
13. GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. bioRxiv. 2025 Jan 11. View Abstract
14. 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
15. 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
16. DNA Sequencing in Newborn Screening: Opportunities, Challenges, and Future Directions. Clin Chem. 2025 Jan 03; 71(1):77-86. View Abstract
17. 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
18. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience. 2025 Feb 21; 28(2):111707. View Abstract
19. 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
20. 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
21. Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesis. bioRxiv. 2024 Dec 02. View Abstract
22. 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
23. SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. J Pediatr. 2025 Mar; 278:114422. View Abstract
24. Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. NPJ Digit Med. 2024 Nov 21; 7(1):333. View Abstract
25. Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery. medRxiv. 2024 Nov 15. View Abstract
26. 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
27. Motor phenotypes associated with genetic neurodevelopmental disorders. Ann Clin Transl Neurol. 2024 Dec; 11(12):3238-3245. View Abstract
28. Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency. JAMA Otolaryngol Head Neck Surg. 2024 Nov 01; 150(11):1038-1039. View Abstract
29. Genetics and precision genomics approaches to pulmonary hypertension. Eur Respir J. 2024 Oct; 64(4). View Abstract
30. Universal newborn screening using genome sequencing: early experience from the GUARDIAN study. Pediatr Res. 2024 Oct 26. View Abstract
31. Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis. Sci Transl Med. 2024 Oct 16; 16(769):eadj0085. View Abstract
32. 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
33. Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants. Am J Hum Genet. 2024 Nov 07; 111(11):2362-2381. View Abstract
34. Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension. bioRxiv. 2024 Sep 22. View Abstract
35. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251. View Abstract
36. PLCG2 variants in cherubism. J Allergy Clin Immunol. 2024 Dec; 154(6):1554-1558. View Abstract
37. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. EBioMedicine. 2024 Sep; 107:105297. View Abstract
38. 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
39. Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder. Clin Genet. 2025 Jan; 107(1):34-43. View Abstract
40. Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Nat Med. 2024 Oct; 30(10):2782-2786. View Abstract
41. 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
42. 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
43. Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT. J Biomed Inform. 2024 Sep; 157:104702. View Abstract
44. Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND). Am J Ophthalmol. 2024 Dec; 268:247-257. View Abstract
45. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Clin Genet. 2024 Nov; 106(5):574-584. View Abstract
46. Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay. Clin Kidney J. 2024 Aug; 17(8):sfae211. View Abstract
47. Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Neuroimage. 2024 Aug 15; 297:120721. View Abstract
48. Return of genetic research results in 21,532 individuals with autism. Genet Med. 2024 Oct; 26(10):101202. View Abstract
49. SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clin Genet. 2024 Oct; 106(4):448-461. View Abstract
50. Understanding individualised genetic interventions as research-treatment hybrids. J Med Ethics. 2024 Jun 26. View Abstract
51. Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. J Clin Invest. 2024 Jun 17; 134(12). View Abstract
52. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 06 06; 390(21):1985-1997. View Abstract
53. Promoting equity in clinical research: The role of social determinants of health. J Biomed Inform. 2024 Aug; 156:104663. View Abstract
54. 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
55. Pathogenic PHIP Variants are Variably Associated With CAKUT. Kidney Int Rep. 2024 Aug; 9(8):2484-2497. View Abstract
56. Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Genet Med. 2024 Aug; 26(8):101169. View Abstract
57. Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs. Pediatr Cardiol. 2025 Apr; 46(4):798-803. View Abstract
58. Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder. medRxiv. 2024 May 05. View Abstract
59. 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
60. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Eur J Hum Genet. 2024 Aug; 32(8):928-937. View Abstract
61. Motor difficulties in 16p11.2 copy number variation. Autism Res. 2024 05; 17(5):906-916. View Abstract
62. GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts. ArXiv. 2024 Apr 22. View Abstract
63. 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
64. An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders. Int J Neonatal Screen. 2024 Apr 16; 10(2). View Abstract
65. Pilot study of a decision aid on BRCA1/2 genetic testing among Orthodox Jewish women. Fam Cancer. 2024 Nov; 23(4):491-498. View Abstract
66. Risk factors affecting polygenic score performance across diverse cohorts. medRxiv. 2024 Apr 10. View Abstract
67. Improvement of variant reclassification in genetic neurodevelopmental conditions. Genet Med Open. 2024; 2:101845. View Abstract
68. Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions. J Autism Dev Disord. 2024 Apr 05. View Abstract
69. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 Apr 04; 147(4):1436-1456. View Abstract
70. 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
71. Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder. Gait Posture. 2024 05; 110:77-83. View Abstract
72. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125. View Abstract
73. Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach. bioRxiv. 2024 Mar 13. View Abstract
74. 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
75. The clinical geneticist workforce: Community forums to address challenges and opportunities. Genet Med. 2024 06; 26(6):101121. View Abstract
76. SPARKing New Insight Into Autism Across the Lifespan. Am J Intellect Dev Disabil. 2024 Mar 01; 129(2):91-95. View Abstract
77. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2024 07; 194(7):e63578. View Abstract
78. Return of polygenic risk scores in research: Stakeholders' views on the eMERGE-IV study. HGG Adv. 2024 Apr 11; 5(2):100281. View Abstract
79. Understanding Social, Cultural, and Religious Factors Influencing Medical Decision-Making on BRCA1/2 Genetic Testing in the Orthodox Jewish Community. Public Health Genomics. 2024; 27(1):57-67. View Abstract
80. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nat Med. 2024 Feb; 30(2):480-487. View Abstract
81. Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction. medRxiv. 2024 Feb 13. View Abstract
82. Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder. Orphanet J Rare Dis. 2024 Feb 07; 19(1):45. View Abstract
83. Childhood physical activity and pubertal timing: findings from the LEGACY girls study. Int J Epidemiol. 2024 Feb 01; 53(1). View Abstract
84. Rescuing lung development through embryonic inhibition of histone acetylation. Sci Transl Med. 2024 Jan 31; 16(732):eadc8930. View Abstract
85. Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder. Clin Genet. 2024 05; 105(5):523-532. View Abstract
86. Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. J Am Med Inform Assoc. 2024 01 18; 31(2):306-316. View Abstract
87. Urinary Androgens Provide Additional Evidence Related to Metabolism and Are Correlated With Serum Androgens in Girls. J Endocr Soc. 2024 Jan 16; 8(3):bvad161. View Abstract
88. Health supervision for children and adolescents with 16p11.2 deletion syndrome. Cold Spring Harb Mol Case Stud. 2023 12; 9(4). View Abstract
89. Germline and Somatic Mutations in DNA Methyltransferase 3A (DNMT3A) Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice: Implications for Associated PAH. medRxiv. 2023 Dec 31. View Abstract
90. Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability. J Autism Dev Disord. 2025 Jan; 55(1):284-296. View Abstract
91. Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data. Semin Oncol. 2023 Dec; 50(6):123-130. View Abstract
92. B56d long-disordered arms form a dynamic PP2A regulation interface coupled with global allostery and Jordan's syndrome mutations. Proc Natl Acad Sci U S A. 2024 Jan 02; 121(1):e2310727120. View Abstract
93. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. Am J Hum Genet. 2024 01 04; 111(1):200-210. View Abstract
94. Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring. Child Care Health Dev. 2024 01; 50(1):e13212. View Abstract
95. Effectiveness of multimodal participant recruitment in SPARK, a large, online longitudinal research study of autism. J Clin Transl Sci. 2024; 8(1):e64. View Abstract
96. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034. View Abstract
97. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 12 01; 146(12):5031-5043. View Abstract
98. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nat Commun. 2023 Nov 30; 14(1):7836. View Abstract
99. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Med. 2023 11 29; 15(1):102. View Abstract
100. Association of genetic and sulcal traits with executive function in congenital heart disease. Ann Clin Transl Neurol. 2024 02; 11(2):278-290. View Abstract
101. Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders. Res Sq. 2023 Nov 22. View Abstract
102. A novel RNF125 variant associated with Tenorio syndrome alters ubiquitin chain binding. Clin Genet. 2024 03; 105(3):254-261. View Abstract
103. Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups. Am J Med Genet A. 2024 03; 194(3):e63471. View Abstract
104. Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. Am J Hum Genet. 2023 11 02; 110(11):1950-1958. View Abstract
105. Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity. NPJ Genom Med. 2023 Oct 21; 8(1):33. View Abstract
106. Receiving de novo genetic diagnoses for autism with intellectual disability: parents' views of impacts on families' reproductive decisions. J Community Genet. 2024 Feb; 15(1):85-96. View Abstract
107. Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease. Physiol Genomics. 2023 Dec 01; 55(12):634-646. View Abstract
108. Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review. J Pediatr Gastroenterol Nutr. 2023 12 01; 77(6):703-712. View Abstract
109. Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease. Commun Med (Lond). 2023 Sep 27; 3(1):127. View Abstract
110. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 10 05; 110(10):1787-1803. View Abstract
111. Uncovering key clinical trial features influencing recruitment. J Clin Transl Sci. 2023; 7(1):e199. View Abstract
112. Caregiver-reported dental manifestations in individuals with genetic neurodevelopmental disorders. Int J Paediatr Dent. 2024 Mar; 34(2):145-152. View Abstract
113. Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education. J Clin Oncol. 2023 11 01; 41(31):4905-4915. View Abstract
114. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Abstract
115. Federated Learning: A Cross-Institutional Feasibility Study of Deep Learning Based Intracranial Tumor Delineation Framework for Stereotactic Radiosurgery. J Magn Reson Imaging. 2024 06; 59(6):1967-1975. View Abstract
116. Artificial intelligence and the impact on medical genetics. Am J Med Genet C Semin Med Genet. 2023 09; 193(3):e32060. View Abstract
117. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. medRxiv. 2023 Aug 04. View Abstract
118. Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders. Front Neurosci. 2023; 17:1106573. View Abstract
119. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 08 01; 146(8):3273-3288. View Abstract
120. A deep intronic DLG4 variant resulting in DLG4-related synaptopathy. Clin Genet. 2024 01; 105(1):77-80. View Abstract
121. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 10; 31(10):1117-1124. View Abstract
122. Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy. Clin Biochem. 2023 Aug; 118:110614. View Abstract
123. Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care. Cold Spring Harb Mol Case Stud. 2023 06; 9(3). View Abstract
124. Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease. Circ Genom Precis Med. 2023 10; 16(5):415-420. View Abstract
125. Knowledge and beliefs about epilepsy genetics among Hispanic and non-Hispanic patients. Epilepsia. 2023 09; 64(9):2443-2453. View Abstract
126. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension. Genet Med. 2023 11; 25(11):100925. View Abstract
127. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival. Cancer Med. 2023 08; 12(15):16142-16162. View Abstract
128. Phenotypic effects of genetic variants associated with autism. Nat Med. 2023 07; 29(7):1671-1680. View Abstract
129. Newborn screening for Duchenne muscular dystrophy: A two-year pilot study. Ann Clin Transl Neurol. 2023 08; 10(8):1383-1396. View Abstract
130. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 08; 25(8):100866. View Abstract
131. Studying the impact of translational genomic research: Lessons from eMERGE. Am J Hum Genet. 2023 07 06; 110(7):1021-1033. View Abstract
132. Association of antiseizure medication adherence with illness perceptions in adults with epilepsy. Epilepsy Behav. 2023 08; 145:109289. View Abstract
133. Cardiac imaging and biomarkers for assessing myocardial fibrosis in children with hypertrophic cardiomyopathy. Am Heart J. 2023 10; 264:153-162. View Abstract
134. Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations. medRxiv. 2023 Jun 05. View Abstract
135. Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes. J Pediatr. 2023 09; 260:113530. View Abstract
136. Response to Beretich and Beretich. Genet Med. 2023 Oct; 25(10):100903. View Abstract
137. Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss. Int J Mol Sci. 2023 May 17; 24(10). View Abstract
138. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med. 2023 06; 16(3):224-231. View Abstract
139. A metadata framework for computational phenotypes. JAMIA Open. 2023 Jul; 6(2):ooad032. View Abstract
140. ARF1-related disorder: phenotypic and molecular spectrum. J Med Genet. 2023 10; 60(10):999-1005. View Abstract
141. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. Br J Cancer. 2023 06; 128(12):2283-2294. View Abstract
142. Design and Rationale the SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study. J Am Heart Assoc. 2023 04 18; 12(8):e028534. View Abstract
143. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View Abstract
144. Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. Circ Genom Precis Med. 2023 06; 16(3):258-266. View Abstract
145. Extended regulation interface coupled to the allosteric network and disease mutations in the PP2A-B56d holoenzyme. bioRxiv. 2023 Apr 05. View Abstract
146. Molecular Function and Contribution of TBX4 in Development and Disease. Am J Respir Crit Care Med. 2023 04 01; 207(7):855-864. View Abstract
147. Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients? Ann Intern Med. 2023 04; 176(4):563-567. View Abstract
148. FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. J Pediatr Genet. 2024 Mar; 13(1):29-34. View Abstract
149. Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives. Genet Med. 2023 06; 25(6):100832. View Abstract
150. Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice. Biol Psychiatry. 2023 11 15; 94(10):769-779. View Abstract
151. Engineered cardiac tissue model of restrictive cardiomyopathy for drug discovery. Cell Rep Med. 2023 03 21; 4(3):100976. View Abstract
152. 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
153. Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease. Circ Genom Precis Med. 2023 04; 16(2):e003900. View Abstract
154. Predicted loss of function alleles in Bassoon (BSN) are associated with obesity. medRxiv. 2023 Feb 23. View Abstract
155. Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH. Eur Respir J. 2023 02; 61(2). View Abstract
156. Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 04; 16(2):e003816. View Abstract
157. Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder. Front Neurosci. 2023; 17:1024388. View Abstract
158. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circ Genom Precis Med. 2023 04; 16(2):e003791. View Abstract
159. Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Sci Adv. 2023 02 17; 9(7):eade4814. View Abstract
160. Maternal and prenatal factors and age at thelarche in the LEGACY Girls Study cohort: implications for breast cancer risk. Int J Epidemiol. 2023 02 08; 52(1):272-283. View Abstract
161. Practical considerations for reinterpretation of individual genetic variants. Genet Med. 2023 05; 25(5):100801. View Abstract
162. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. Genome Med. 2023 01 26; 15(1):7. View Abstract
163. The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare. Genet Med. 2023 04; 25(4):100022. View Abstract
164. SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants. Brief Bioinform. 2023 01 19; 24(1). View Abstract
165. Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Hum Mol Genet. 2023 01 13; 32(3):473-488. View Abstract
166. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 04; 25(4):100006. View Abstract
167. Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. JAMA Netw Open. 2023 01 03; 6(1):e2253191. View Abstract
168. First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. Am J Respir Crit Care Med. 2022 12 15; 206(12):1522-1533. View Abstract
169. Development of Competency-based Online Genomic Medicine Training (COGENT). Per Med. 2023 01; 20(1):55-64. View Abstract
170. Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. J Pers Med. 2022 Nov 16; 12(11). View Abstract
171. Predicting functional effect of missense variants using graph attention neural networks. Nat Mach Intell. 2022 Nov; 4(11):1017-1028. View Abstract
172. Deep learning for rare disease: A scoping review. J Biomed Inform. 2022 11; 135:104227. View Abstract
173. 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
174. Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis. J Med Genet. 2023 05; 60(5):511-522. View Abstract
175. 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
176. 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
177. Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot. Int J Neonatal Screen. 2022 Sep 22; 8(4). View Abstract
178. Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing. Public Health Genomics. 2022 Sep 15; 1-8. View Abstract
179. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. Genet Med. 2022 11; 24(11):2351-2366. View Abstract
180. OARD: Open annotations for rare diseases and their phenotypes based on real-world data. Am J Hum Genet. 2022 09 01; 109(9):1591-1604. View Abstract
181. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet. 2022 09; 54(9):1305-1319. View Abstract
182. 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
183. 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
184. 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
185. Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region. Neurol Genet. 2022 Oct; 8(5):e200018. View Abstract
186. Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency. Commun Biol. 2022 08 02; 5(1):779. View Abstract
187. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A. 2022 10; 188(10):2958-2968. View Abstract
188. PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity. Cold Spring Harb Mol Case Stud. 2022 Jul 21. View Abstract
189. Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. Am J Hum Genet. 2022 08 04; 109(8):1549-1558. View Abstract
190. Newborn screening for neurodevelopmental diseases: Are we there yet? Am J Med Genet C Semin Med Genet. 2022 06; 190(2):222-230. View Abstract
191. SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nat Commun. 2022 07 15; 13(1):4112. View Abstract
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203. Genome-wide polygenic score to predict chronic kidney disease across ancestries. Nat Med. 2022 07; 28(7):1412-1420. View Abstract
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206. Challenges and potential solutions to health disparities in genomic medicine. Cell. 2022 06 09; 185(12):2007-2010. View Abstract
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209. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol. 2022 06 01; 8(6):835-844. View Abstract
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214. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenetics. 2022 04 19; 14(1):52. View Abstract
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216. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540. View Abstract
217. Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. Am J Hum Genet. 2022 05 05; 109(5):961-966. View Abstract
218. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022 04 07; 109(4):601-617. View Abstract
219. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. Genet Med. 2022 Apr; 24(4):967. View Abstract
220. Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic. Int J Neonatal Screen. 2022 Mar 22; 8(2). View Abstract
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223. Weight is More Informative than Body Mass Index for Predicting Postmenopausal Breast Cancer Risk: Prospective Family Study Cohort (ProF-SC). Cancer Prev Res (Phila). 2022 03 01; 15(3):185-191. View Abstract
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226. Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circ Genom Precis Med. 2022 04; 15(2):e003500. View Abstract
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229. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. J Clin Oncol. 2022 05 10; 40(14):1529-1541. View Abstract
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233. The genetic architecture of pediatric cardiomyopathy. Am J Hum Genet. 2022 02 03; 109(2):282-298. View Abstract
234. Extracorporeal Membrane Oxygenation (ECMO) and its complications in newborns with congenital diaphragmatic hernia. J Pediatr Surg. 2022 Aug; 57(8):1642-1648. View Abstract
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236. Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation. 2022 03 22; 145(12):877-891. View Abstract
237. Genetic Diagnostic Strategies and Counseling for Families Affected by Congenital Diaphragmatic Hernia. Eur J Pediatr Surg. 2021 Dec; 31(6):472-481. View Abstract
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239. Recreational Physical Activity and Outcomes After Breast Cancer in Women at High Familial Risk. JNCI Cancer Spectr. 2021 12; 5(6). View Abstract
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244. 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
245. 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
246. Neurodevelopmental profile of HIVEP2-related disorder. Dev Med Child Neurol. 2022 05; 64(5):654-661. View Abstract
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250. Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue. Nat Med. 2021 10; 27(10):1701-1711. View Abstract
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252. A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. N Engl J Med. 2021 09 30; 385(14):1292-1301. View Abstract
253. 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
254. 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
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256. 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
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258. 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
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260. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence. Elife. 2021 08 03; 10. View Abstract
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266. 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
267. Clinical and genomic characterization of 8p cytogenomic disorders. Genet Med. 2021 12; 23(12):2342-2351. View Abstract
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269. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 10; 23(10):1838-1846. View Abstract
270. 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
271. Case Report: Esophageal Bronchus in a Neonate, With Image, Histological, and Molecular Analysis. Front Pediatr. 2021; 9:707822. View Abstract
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274. 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
275. 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
276. 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
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278. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genet Med. 2021 09; 23(9):1624-1635. View Abstract
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281. 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
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283. 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
284. 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
285. Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection. Genet Med. 2021 09; 23(9):1783-1788. View Abstract
286. 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
287. Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network. JNCI Cancer Spectr. 2021 08; 5(4). View Abstract
288. 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
289. 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
290. Common Childhood Viruses and Pubertal Timing: The LEGACY Girls Study. Am J Epidemiol. 2021 05 04; 190(5):766-778. View Abstract
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292. 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
293. 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
294. 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
295. 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
296. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr; 23(4):796. View Abstract
297. Response to Li and Hopper. Am J Hum Genet. 2021 03 04; 108(3):527-529. View Abstract
298. 16p11.2 deletion syndrome. Curr Opin Genet Dev. 2021 06; 68:49-56. View Abstract
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300. 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
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302. Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress. Autism Res. 2021 06; 14(6):1209-1219. View Abstract
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304. Prepubertal Internalizing Symptoms and Timing of Puberty Onset in Girls. Am J Epidemiol. 2021 02 01; 190(3):431-438. View Abstract
305. 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
306. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. Neurol Genet. 2021 Feb; 7(1):e551. View Abstract
307. MVP predicts the pathogenicity of missense variants by deep learning. Nat Commun. 2021 01 21; 12(1):510. View Abstract
308. 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
309. 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
310. Does the law require reinterpretation and return of revised genomic results? Genet Med. 2021 05; 23(5):833-836. View Abstract
311. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 01 06; 29(21):3516-3531. View Abstract
312. 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
313. 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
314. 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
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317. 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
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319. Common germline-somatic variant interactions in advanced urothelial cancer. Nat Commun. 2020 12 03; 11(1):6195. View Abstract
320. 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
321. 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
322. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clin Genet. 2021 02; 99(2):313-317. View Abstract
323. Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS Genet. 2020 11; 16(11):e1009189. View Abstract
324. Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism". Ann Neurol. 2021 01; 89(1):195-196. View Abstract
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326. Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies. Neuron. 2021 01 06; 109(1):59-72.e5. View Abstract
327. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 11; 19(11):908-918. View Abstract
328. 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
329. 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
330. 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
331. Human iPSC-Derived Neuronal Cells From CTBP1-Mutated Patients Reveal Altered Expression of Neurodevelopmental Gene Networks. Front Neurosci. 2020; 14:562292. View Abstract
332. 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
333. Exome sequencing and characterization of 49,960 individuals in the UK Biobank. Nature. 2020 10; 586(7831):749-756. View Abstract
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335. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. Elife. 2020 10 15; 9. View Abstract
336. 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
337. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort. J Autism Dev Disord. 2020 Oct; 50(10):3679-3698. View Abstract
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339. 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
340. 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
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343. 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
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348. Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. Ann Neurol. 2020 11; 88(5):1028-1033. View Abstract
349. Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. Am J Hum Genet. 2020 09 03; 107(3):432-444. View Abstract
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351. 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
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356. 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
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358. Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. Eur J Hum Genet. 2021 01; 29(1):122-130. View Abstract
359. 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
360. 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
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366. COVID-19's Impact on Genetics at One Medical Center in New York. Genet Med. 2020 09; 22(9):1467-1469. View Abstract
367. 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
368. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genet Med. 2020 08; 22(8):1296-1302. View Abstract
369. 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
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371. 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
372. The polygenic architecture of left ventricular mass mirrors the clinical epidemiology. Sci Rep. 2020 05 05; 10(1):7561. View Abstract
373. Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595. View Abstract
374. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Med. 2020 04 29; 12(1):42. View Abstract
375. Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. J Pers Med. 2020 Apr 27; 10(2). View Abstract
376. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet. 2020 06; 21(6):367-376. View Abstract
377. A qualitative study of Latinx parents' experiences of clinical exome sequencing. J Genet Couns. 2020 08; 29(4):574-586. View Abstract
378. 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
379. 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
380. 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
381. Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders. Pediatr Res. 2020 11; 88(5):761-768. View Abstract
382. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet. 2020 04 02; 106(4):467-483. View Abstract
383. Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension. Circulation. 2020 06 16; 141(24):1986-2000. View Abstract
384. 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
385. 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
386. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol. 2020 07; 44(5):442-468. View Abstract
387. 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
388. 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
389. Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension. Chest. 2020 05; 157(5):1287-1295. View Abstract
390. 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
391. Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. Pediatr Pulmonol. 2021 03; 56(3):614-620. View Abstract
392. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020 01; 52(1):56-73. View Abstract
393. Can Clinical Genetics Laboratories be Sued for Medical Malpractice? Ann Health Law Life Sci. 2020; 29(1):153-172. View Abstract
394. The genetics of isolated congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):97-106. View Abstract
395. 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
396. Developing effective and efficient genomic educational tools for our diverse population. Ann Transl Med. 2019 Dec; 7(Suppl 8):S304. View Abstract
397. Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC). Breast Cancer Res. 2019 11 28; 21(1):128. View Abstract
398. Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication. Biol Psychiatry Cogn Neurosci Neuroimaging. 2020 10; 5(10):942-950. View Abstract
399. Psychotic symptoms in 16p11.2 copy-number variant carriers. Autism Res. 2020 02; 13(2):187-198. View Abstract
400. Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome Med. 2019 11 14; 11(1):69. View Abstract
401. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness. Cancer Res. 2020 02 01; 80(3):624-638. View Abstract
402. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. NPJ Breast Cancer. 2019; 5:38. View Abstract
403. 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
404. Comparative outcomes of right versus left congenital diaphragmatic hernia: A multicenter analysis. J Pediatr Surg. 2020 Jan; 55(1):33-38. View Abstract
405. Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management. Ann Intern Med. 2019 12 17; 171(12):925-930. View Abstract
406. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nat Commun. 2019 10 17; 10(1):4722. View Abstract
407. Is there a duty to reinterpret genetic data? The ethical dimensions. Genet Med. 2020 03; 22(3):633-639. View Abstract
408. Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice. Int J Mol Sci. 2019 Oct 11; 20(20). View Abstract
409. Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families. Epilepsia. 2019 11; 60(11):2286-2293. View Abstract
410. Recreational Physical Activity Is Associated with Reduced Breast Cancer Risk in Adult Women at High Risk for Breast Cancer: A Cohort Study of Women Selected for Familial and Genetic Risk. Cancer Res. 2020 01 01; 80(1):116-125. View Abstract
411. Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. Genet Med. 2019 Oct; 21(10):2407. View Abstract
412. 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
413. Cases in Precision Medicine: Should You Participate in a Study Involving Genomic Sequencing of Your Patients? Ann Intern Med. 2019 10 15; 171(8):568-572. View Abstract
414. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. Hum Genet. 2019 Dec; 138(11-12):1259-1266. View Abstract
415. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 05; 105(3):672-674. View Abstract
416. Impact of patient education videos on genetic counseling outcomes after exome sequencing. Patient Educ Couns. 2020 01; 103(1):127-135. View Abstract
417. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019; 4:19. View Abstract
418. Clinical and genetic characterization of individuals with predicted deleterious PHIP variants. Cold Spring Harb Mol Case Stud. 2019 08; 5(4). View Abstract
419. The influence of genetics in congenital diaphragmatic hernia. Semin Perinatol. 2020 02; 44(1):151169. View Abstract
420. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424. View Abstract
421. Applying Deep Neural Network Analysis to High-Content Image-Based Assays. SLAS Discov. 2019 09; 24(8):829-841. View Abstract
422. Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers. J Neurosci. 2019 09 11; 39(37):7321-7331. View Abstract
423. 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
424. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2019 07; 121(2):180-192. View Abstract
425. Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies. Genet Med. 2019 12; 21(12):2781-2790. View Abstract
426. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 11; 21(11):2413-2421. View Abstract
427. 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
428. Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). View Abstract
429. The FTO Gene and Measured Food Intake in 5- to 10-Year-Old Children Without Obesity. Obesity (Silver Spring). 2019 06; 27(6):1023-1029. View Abstract
430. Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing. Ann Intern Med. 2019 06 04; 170(11):796-804. View Abstract
431. Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family. Ann Intern Med. 2019 05 21; 170(10):710-716. View Abstract
432. Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results. Ann Intern Med. 2019 05 07; 170(9):643-650. View Abstract
433. Precision Medicine in Internal Medicine. Ann Intern Med. 2019 05 07; 170(9):635-642. View Abstract
434. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. 2019 08; 20(3):129-143. View Abstract
435. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 06; 21(6):1267-1270. View Abstract
436. Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study. Breast Cancer Res. 2019 04 18; 21(1):52. View Abstract
437. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nat Commun. 2019 04 15; 10(1):1741. View Abstract
438. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. J Natl Cancer Inst. 2019 04 01; 111(4):350-364. View Abstract
439. Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. Genet Med. 2019 10; 21(10):2371-2380. View Abstract
440. United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. Pulm Circ. 2019 Apr-Jun; 9(2):2045894019851696. View Abstract
441. Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: a case for sequencing the germline. Cold Spring Harb Mol Case Stud. 2019 04; 5(2). View Abstract
442. Rethinking the "open future" argument against predictive genetic testing of children. Genet Med. 2019 10; 21(10):2190-2198. View Abstract
443. Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication. Transl Psychiatry. 2019 03 05; 9(1):107. View Abstract
444. Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk. J Natl Cancer Inst. 2019 03 01; 111(3):331-334. View Abstract
445. Response to Wang et al. Genet Med. 2019 09; 21(9):2158. View Abstract
446. 10-year performance of four models of breast cancer risk: a validation study. Lancet Oncol. 2019 04; 20(4):504-517. View Abstract
447. SMPD1 mutations, activity, and a-synuclein accumulation in Parkinson's disease. Mov Disord. 2019 04; 34(4):526-535. View Abstract
448. Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort. Int J Cancer. 2019 07 15; 145(2):370-379. View Abstract
449. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089. View Abstract
450. A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR. NPJ Genom Med. 2019; 4:3. View Abstract
451. Association of Prepubertal and Adolescent Androgen Concentrations With Timing of Breast Development and Family History of Breast Cancer. JAMA Netw Open. 2019 02 01; 2(2):e190083. View Abstract
452. A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder. Cold Spring Harb Mol Case Stud. 2019 02; 5(1). View Abstract
453. Genetics and genomics of pulmonary arterial hypertension. Eur Respir J. 2019 01; 53(1). View Abstract
454. Intervening Nidal Brain Parenchyma and Risk of Radiation-Induced Changes After Radiosurgery for Brain Arteriovenous Malformation: A Study Using an Unsupervised Machine Learning Algorithm. World Neurosurg. 2019 05; 125:e132-e138. View Abstract
455. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019 04; 21(4):772-789. View Abstract
456. Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):287-298. View Abstract
457. Psychiatric disorders in children with 16p11.2 deletion and duplication. Transl Psychiatry. 2019 01 16; 9(1):8. View Abstract
458. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 02 07; 104(2):213-228. View Abstract
459. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. J Inherit Metab Dis. 2019 01; 42(1):147-158. View Abstract
460. Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network. Pac Symp Biocomput. 2019; 24:272-283. View Abstract
461. Response to Evans et al. Genet Med. 2019 08; 21(8):1880-1881. View Abstract
462. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS Genet. 2018 12; 14(12):e1007822. View Abstract
463. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 12 06; 103(6):1054-1055. View Abstract
464. A novel method to determine the natural course of unruptured brain arteriovenous malformations without the need for follow-up information. J Neurosurg. 2018 12 01; 129(Suppl1):10-16. View Abstract
465. The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing. Ann Intern Med. 2019 01 01; 170(1):11-21. View Abstract
466. 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
467. Fully automated tissue segmentation of the prescription isodose region delineated through the Gamma knife plan for cerebral arteriovenous malformation (AVM) using fuzzy C-means (FCM) clustering. Neuroimage Clin. 2019; 21:101608. View Abstract
468. Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC). Breast Cancer Res. 2018 11 03; 20(1):132. View Abstract
469. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 11 01; 103(5):786-793. View Abstract
470. 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
471. Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension. Circ Genom Precis Med. 2018 10; 11(10):e002087. View Abstract
472. Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature. Cold Spring Harb Mol Case Stud. 2018 10; 4(5). View Abstract
473. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018 12; 39(12):1875-1884. View Abstract
474. Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. Am J Med Genet A. 2018 11; 176(11):2470-2478. View Abstract
475. Increasing genomic literacy among adolescents. Genet Med. 2019 04; 21(4):994-1000. View Abstract
476. Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant. Neurol Sci. 2018 Nov; 39(11):1917-1925. View Abstract
477. Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Mol Genet Genomic Med. 2018 11; 6(6):898-909. View Abstract
478. Stereotactic radiosurgery for hypervascular intracranial tumors. J Neurooncol. 2018 Dec; 140(3):547-558. View Abstract
479. Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN. Am J Med Genet A. 2018 09; 176(9):1956-1963. View Abstract
480. Parental perceptions of prenatal whole exome sequencing (PPPWES) study. Prenat Diagn. 2018 10; 38(11):801-811. View Abstract
481. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. Am J Med Genet A. 2018 08; 176(8):1773-1777. View Abstract
482. Laboratory considerations for prenatal genetic testing. Semin Perinatol. 2018 08; 42(5):307-313. View Abstract
483. Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. Genome Med. 2018 07 20; 10(1):56. View Abstract
484. Recurrent diffuse lung disease due to surfactant protein C deficiency. Respir Med Case Rep. 2018; 25:91-95. View Abstract
485. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018 Jul 13; 6(3). View Abstract
486. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. Am J Hum Genet. 2018 07 05; 103(1):100-114. View Abstract
487. Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes. Am J Hum Genet. 2018 07 05; 103(1):58-73. View Abstract
488. 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
489. Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C. Tremor Other Hyperkinet Mov (N Y). 2018; 8:560. View Abstract
490. Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease. Eur J Med Genet. 2019 Jan; 62(1):65-69. View Abstract
491. Assessing patient readiness for personalized genomic medicine. J Community Genet. 2019 Jan; 10(1):109-120. View Abstract
492. Response to ten Broeke et al. Genet Med. 2019 01; 21(1):258-259. View Abstract
493. Progress in Understanding and Treating SCN2A-Mediated Disorders. Trends Neurosci. 2018 07; 41(7):442-456. View Abstract
494. Comparison of methods to assess onset of breast development in the LEGACY Girls Study: methodological considerations for studies of breast cancer. Breast Cancer Res. 2018 04 18; 20(1):33. View Abstract
495. 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
496. Breast cancer family history and allele-specific DNA methylation in the legacy girls study. Epigenetics. 2018; 13(3):240-250. View Abstract
497. Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Circ Genom Precis Med. 2018 04; 11(4):e001887. View Abstract
498. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biol Psychiatry. 2018 08 15; 84(4):253-264. View Abstract
499. Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors. Hum Mutat. 2018 06; 39(6):870-881. View Abstract
500. Whole-Genome and Whole-Exome Sequencing in Pediatric Oncology: An Assessment of Parent and Young Adult Patient Knowledge, Attitudes, and Expectations. JCO Precis Oncol. 2018; 2. View Abstract
501. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 05; 39(5):593-620. View Abstract
502. Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes. J Am Heart Assoc. 2018 03 09; 7(6). View Abstract
503. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935. View Abstract
504. Robust identification of mosaic variants in congenital heart disease. Hum Genet. 2018 Feb; 137(2):183-193. View Abstract
505. Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 02 02; 9(1):554. View Abstract
506. FTO genotype impacts food intake and corticolimbic activation. Am J Clin Nutr. 2018 02 01; 107(2):145-154. View Abstract
507. Early Stereotactic Radiosurgery for Medically Refractory Trigeminal Neuralgia. World Neurosurg. 2018 Apr; 112:e569-e575. View Abstract
508. The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One. 2018; 13(1):e0191319. View Abstract
509. MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. Genet Med. 2018 10; 20(10):1167-1174. View Abstract
510. Lumbar Dorsal Root Ganglion Block as a Prognostic Tool Before Pulsed Radiofrequency: A Randomized, Prospective, and Comparative Study on Cost-Effectiveness. World Neurosurg. 2018 Apr; 112:e157-e164. View Abstract
511. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 01 04; 9(1):67. View Abstract
512. Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. J Pers Med. 2018 Jan 03; 8(1). View Abstract
513. A definition of gentle ventilation in congenital diaphragmatic hernia: a survey of neonatologists and pediatric surgeons. J Perinat Med. 2017 Dec 20; 45(9):1031-1038. View Abstract
514. Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies. J Genet Couns. 2018 08; 27(4):927-934. View Abstract
515. Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience. Front Pediatr. 2017; 5:265. View Abstract
516. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017 Dec; 82(6):1004-1015. View Abstract
517. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 02; 176(2):311-318. View Abstract
518. Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study. J Genet Couns. 2018 06; 27(3):709-722. View Abstract
519. De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View Abstract
520. The impact of hereditary cancer gene panels on clinical care and lessons learned. Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6). View Abstract
521. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685. View Abstract
522. PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics. Circ Res. 2017 10 27; 121(10):1136-1139. View Abstract
523. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med. 2018 06; 20(6):608-613. View Abstract
524. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov; 49(11):1593-1601. View Abstract
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527. Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium. Genet Med. 2018 04; 20(5):545-553. View Abstract
528. CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2017 08; 19(8):962. View Abstract
529. Congenital diaphragmatic hernias: from genes to mechanisms to therapies. Dis Model Mech. 2017 08 01; 10(8):955-970. View Abstract
530. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12; 136(11):1037-1048. View Abstract
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532. Pubertal development in girls by breast cancer family history: the LEGACY girls cohort. Breast Cancer Res. 2017 06 08; 19(1):69. View Abstract
533. Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. J Med Genet. 2017 12; 54(12):825-829. View Abstract
534. 23andMe Paves the Way for Direct-to-Consumer Genetic Health Risk Tests of Limited Clinical Utility. Ann Intern Med. 2017 Jul 18; 167(2):125-126. View Abstract
535. ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations. Laryngoscope. 2017 10; 127(10):E336-E339. View Abstract
536. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16; 88(20):1919-1924. View Abstract
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538. Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients. J Genet Couns. 2017 Oct; 26(5):1116-1129. View Abstract
539. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet. 2017 May; 49(5):680-691. View Abstract
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543. MC4R-dependent suppression of appetite by bone-derived lipocalin 2. Nature. 2017 03 16; 543(7645):385-390. View Abstract
544. Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease. Cell Rep. 2017 02 07; 18(6):1484-1498. View Abstract
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548. iPSC-derived ß cells model diabetes due to glucokinase deficiency. J Clin Invest. 2017 03 01; 127(3):1115. View Abstract
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550. Self-Reported Questionnaire Detects Family History of Cancer in a Pancreatic Cancer Screening Program. J Genet Couns. 2017 Aug; 26(4):806-813. View Abstract
551. Research Participants' Preferences for Hypothetical Secondary Results from Genomic Research. J Genet Couns. 2017 Aug; 26(4):841-851. View Abstract
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553. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017 Jan 05; 100(1):117-127. View Abstract
554. Childhood acromegaly due to X-linked acrogigantism: long term follow-up. Pituitary. 2016 Dec; 19(6):560-564. View Abstract
555. Population-Based Study of Attitudes toward BRCA Genetic Testing among Orthodox Jewish Women. Breast J. 2017 May; 23(3):333-337. View Abstract
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558. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 05; 19(5):575-582. View Abstract
559. Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy. Traffic. 2016 12; 17(12):1297-1312. View Abstract
560. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. 2016 11; 2(6):a001172. View Abstract
561. Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat. 2017 01; 161(1):117-134. View Abstract
562. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 12; 135(12):1399-1409. View Abstract
563. Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nat Commun. 2016 09 27; 7:12824. View Abstract
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567. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. Am J Hum Genet. 2016 09 01; 99(3):728-734. View Abstract
568. Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. J Autism Dev Disord. 2016 Aug; 46(8):2734-2748. View Abstract
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570. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 07 07; 99(1):246. View Abstract
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572. Hypertrophic cardiomyopathy: New approaches and a time to reappraise older approaches. J Thorac Cardiovasc Surg. 2016 10; 152(4):983-8. View Abstract
573. Comparison of Clinical, Maternal, and Self Pubertal Assessments: Implications for Health Studies. Pediatrics. 2016 07; 138(1). View Abstract
574. Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. Am J Hum Genet. 2016 06 02; 98(6):1235-1242. View Abstract
575. 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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577. 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
578. 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
579. The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History. Epidemiology. 2016 May; 27(3):438-48. View Abstract
580. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nat Commun. 2016 04 27; 7:11375. View Abstract
581. 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
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583. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 07; 135(7):699-705. View Abstract
584. 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
585. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 07; 17(3):159-64. View Abstract
586. 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
587. SCARB2 variants and glucocerebrosidase activity in Parkinson's disease. NPJ Parkinsons Dis. 2016; 2. View Abstract
588. 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
589. A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services. Pediatrics. 2016 Feb; 137(2):e20143874. View Abstract
590. 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
591. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan; 73(1):20-30. View Abstract
592. 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
593. 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
594. Parents' interest in genetic testing of their offspring in multiplex epilepsy families. Epilepsia. 2016 Feb; 57(2):279-87. View Abstract
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596. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015 Dec 04; 350(6265):1262-6. View Abstract
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598. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016 Jan; 17(1):43-9. View Abstract
599. 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
600. Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society. Circulation. 2015 Nov 24; 132(21):2037-99. View Abstract
601. 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
602. Psychosocial Adjustment in School-age Girls With a Family History of Breast Cancer. Pediatrics. 2015 Nov; 136(5):927-37. View Abstract
603. Gamma Knife Radiosurgery for Atypical and Anaplastic Meningiomas. World Neurosurg. 2016 Mar; 87:557-64. View Abstract
604. Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Hum Mutat. 2015 Dec; 36(12):1113-27. View Abstract
605. 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
606. 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
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608. Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice. Pediatrics. 2015 Oct; 136(4):e974-82. View Abstract
609. 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
610. 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
611. Genetic causal attribution of epilepsy and its implications for felt stigma. Epilepsia. 2015 Oct; 56(10):1542-50. View Abstract
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614. 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
615. 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
616. 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
617. Cohort Profile: The Breast Cancer Prospective Family Study Cohort (ProF-SC). Int J Epidemiol. 2016 06; 45(3):683-92. View Abstract
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624. 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
625. 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
626. 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
627. 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
628. 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
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630. 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
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632. 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
633. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science. 2015 Mar 27; 347(6229):1436-41. View Abstract
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635. 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
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638. 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
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643. Gamma Knife surgery for craniopharyngioma: report on a 20-year experience. J Neurosurg. 2014 Dec; 121 Suppl:167-78. View Abstract
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645. Should life insurers have access to genetic test results? JAMA. 2014 Nov 12; 312(18):1855-6. View Abstract
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648. 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
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661. 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
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670. 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
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700. A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice. Rare Dis. 2013; 1:e26144. View Abstract
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707. iPSC-derived ß cells model diabetes due to glucokinase deficiency. J Clin Invest. 2013 07; 123(7):3146-53. View Abstract
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716. 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
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745. 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
746. Novel SLC39A4 mutation in acrodermatitis enteropathica. Pediatr Dermatol. 2011 Nov-Dec; 28(6):697-700. View Abstract
747. Similarity-based disease risk assessment for personal genomes: proof of concept. AMIA Annu Symp Proc. 2011; 2011:1524-31. View Abstract
748. An overview of mongenic and syndromic obesities in humans. Pediatr Blood Cancer. 2012 Jan; 58(1):122-8. View Abstract
749. Clinical and molecular genetic features of hereditary pulmonary arterial hypertension. Compr Physiol. 2011 Oct; 1(4):1721-8. View Abstract
750. 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
751. Intragenic deletion as a novel type of mutation in Wolman disease. Mol Genet Metab. 2011 Dec; 104(4):703-5. View Abstract
752. 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
753. 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
754. Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. Cardiol Young. 2012 Apr; 22(2):194-201. View Abstract
755. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet. 2011 Dec; 19(12):1238-45. View Abstract
756. Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease. JIMD Rep. 2011; 1:79-82. View Abstract
757. Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. Circulation. 2011 May 31; 123(21):2353-62. View Abstract
758. 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
759. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol. 2011 May; 44(5):317-27. View Abstract
760. 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
761. 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
762. Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death. Cardiol Young. 2011 Jun; 21(3):345-8. View Abstract
763. 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
764. Global DNA methylation levels in girls with and without a family history of breast cancer. Epigenetics. 2011 Jan; 6(1):29-33. View Abstract
765. 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
766. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol. 2010 Dec; 68(6):955-8. View Abstract
767. 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
768. 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
769. 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
770. 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
771. Enalapril in infants with single ventricle: results of a multicenter randomized trial. Circulation. 2010 Jul 27; 122(4):333-40. View Abstract
772. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010 Jul; 12(7):446-63. View Abstract
773. 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
774. 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
775. 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
776. 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
777. 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
778. 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
779. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2009 Jun 30; 54(1 Suppl):S32-S42. View Abstract
780. Gamma knife radiosurgery for the treatment of recurrent seizures after incomplete anterior temporal lobectomy. Seizure. 2009 Sep; 18(7):511-4. View Abstract
781. 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
782. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 2009 Jun; 29(6):560-9. View Abstract
783. 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
784. 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
785. 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
786. Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2. Neurobiol Dis. 2009 Mar; 33(3):499-508. View Abstract
787. 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
788. Considerations regarding the genetics of obesity. Obesity (Silver Spring). 2008 Dec; 16 Suppl 3:S33-9. View Abstract
789. Functional consequences of the human leptin receptor (LEPR) Q223R transversion. Obesity (Silver Spring). 2009 Jan; 17(1):126-35. View Abstract
790. 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
791. 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
792. 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
793. 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
794. 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
795. 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
796. Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda. Reprod Biomed Online. 2008; 17 Suppl 1:33-42. View Abstract
797. 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
798. 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
799. 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
800. RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy. Hum Genet. 2007 Dec; 122(5):515-23. View Abstract
801. Implementation of genetics to personalize medicine. Gend Med. 2007 Sep; 4(3):248-65. View Abstract
802. 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
803. 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
804. 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
805. 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
806. Decision-making about reproductive choices among individuals at-risk for Huntington's disease. J Genet Couns. 2007 Jun; 16(3):347-62. View Abstract
807. 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
808. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. View Abstract
809. 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
810. Gene expression patterns in blood leukocytes discriminate patients with acute infections. Blood. 2007 Mar 01; 109(5):2066-77. View Abstract
811. The links between obesity, leptin, and prostate cancer. Cancer J. 2006 May-Jun; 12(3):178-81. View Abstract
812. 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
813. 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
814. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatr Dev Pathol. 2005 Nov-Dec; 8(6):706-9. View Abstract
815. Primary pediatric brain tumors: statistics of Taipei VGH, Taiwan (1975-2004). Cancer. 2005 Nov 15; 104(10):2156-67. View Abstract
816. Molecular physiology of syndromic obesities in humans. Trends Endocrinol Metab. 2005 Aug; 16(6):267-72. View Abstract
817. 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
818. 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
819. Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genet Med. 2005 Feb; 7(2):111-8. View Abstract
820. Gamma knife surgery for vestibular schwannoma: 10-year experience of 195 cases. J Neurosurg. 2005 Jan; 102 Suppl:87-96. View Abstract
821. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat. 2004 Oct; 24(4):312-20. View Abstract
822. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr; 14(4):253-60. View Abstract
823. Foamy podocytes. Am J Kidney Dis. 2003 Apr; 41(4):891-6. View Abstract
824. The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein. J Clin Invest. 2002 Nov; 110(10):1449-59. View Abstract
825. 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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