Wendy Chung

Publications

1. Prenatal genomic sequencing: Navigating uncertainty. Semin Perinatol. 2025 Apr; 49(3):152058. View Abstract
2. Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis. Dev Cell. 2025 May 21. View Abstract
3. A probabilistic graphical model for estimating selection coefficients of nonsynonymous variants from human population sequence data. Nat Commun. 2025 May 20; 16(1):4670. View Abstract
4. Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation. Genet Med. 2025 May 16; 101457. View Abstract
5. Understanding speech and language in KIF1A-associated neurological disorder. Eur J Hum Genet. 2025 May 16. View Abstract
6. Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown. HGG Adv. 2025 May 08; 6(3):100450. View Abstract
7. Opportunities and Challenges of Fetal Gene Therapy. Prenat Diagn. 2025 May 05. View Abstract
8. Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A. Biomolecules. 2025 May 02; 15(5). View Abstract
9. Genomic newborn screening: exploring opportunities and navigating pitfalls while ensuring inclusivity. Trends Genet. 2025 Apr 28. View Abstract
10. Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genet Med. 2025 Apr 25; 101443. View Abstract
11. Understanding individualised genetic interventions as research-treatment hybrids. J Med Ethics. 2025 Apr 24; 51(5). View Abstract
12. Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. Am J Hum Genet. 2025 May 01; 112(5):1117-1138. View Abstract
13. A probabilistic graphical model for estimating selection coefficient of nonsynonymous variants from human population sequence data. medRxiv. 2025 Apr 11. View Abstract
14. A Pilot Meta-research on Evolving Evidence Behind Genetic Variant (Re)Classification. medRxiv. 2025 Apr 09. View Abstract
15. SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons. Brain. 2025 Apr 04. View Abstract
16. Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder. Brain. 2025 Apr 03; 148(4):1194-1211. View Abstract
17. The new newborn screening. Nat Med. 2025 Apr; 31(4):1075-1076. View Abstract
18. Efficient identification of de novo mutations in family trios: a consensus-based informatic approach. Life Sci Alliance. 2025 Jun; 8(6). View Abstract
19. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proc Natl Acad Sci U S A. 2025 Apr; 122(13):e2420343122. View Abstract
20. A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles. JCI Insight. 2025 Apr 22; 10(8). View Abstract
21. Systematic method for classifying multiple congenital anomaly cases in electronic health records. Genet Med. 2025 Mar 18; 27(6):101415. View Abstract
22. De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 Apr 03; 112(4):846-862. View Abstract
23. GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. Elife. 2025 Mar 13; 13. View Abstract
24. Recessive genetic contribution to congenital heart disease in 5,424 probands. Proc Natl Acad Sci U S A. 2025 Mar 11; 122(10):e2419992122. View Abstract
25. Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis. J Am Heart Assoc. 2025 Mar 04; 14(5):e036860. View Abstract
26. Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease. Med Image Anal. 2025 May; 102:103538. View Abstract
27. Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A. bioRxiv. 2025 Feb 27. View Abstract
28. Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy. Brain. 2025 Feb 21. View Abstract
29. 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
30. MYRF is Essential in Mesothelial Cells to Promote Lung Development and Maturation. bioRxiv. 2025 Feb 14. View Abstract
31. 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
32. Comparison of autism domains across thirty rare variant genotypes. EBioMedicine. 2025 Feb; 112:105521. View Abstract
33. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025 Apr; 27(4):101369. View Abstract
34. Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. bioRxiv. 2025 Jan 28. View Abstract
35. Risk factors affecting polygenic score performance across diverse cohorts. Elife. 2025 Jan 24; 12. View Abstract
36. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA. 2025 01 21; 333(3):232-240. View Abstract
37. Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. medRxiv. 2025 Jan 17. View Abstract
38. GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. bioRxiv. 2025 Jan 11. View Abstract
39. 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
40. 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
41. DNA Sequencing in Newborn Screening: Opportunities, Challenges, and Future Directions. Clin Chem. 2025 Jan 03; 71(1):77-86. View Abstract
42. 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
43. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience. 2025 Feb 21; 28(2):111707. View Abstract
44. 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
45. 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
46. Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesis. bioRxiv. 2024 Dec 02. View Abstract
47. 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
48. SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. J Pediatr. 2025 Mar; 278:114422. View Abstract
49. Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. NPJ Digit Med. 2024 Nov 21; 7(1):333. View Abstract
50. Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery. medRxiv. 2024 Nov 15. View Abstract
51. 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
52. Motor phenotypes associated with genetic neurodevelopmental disorders. Ann Clin Transl Neurol. 2024 Dec; 11(12):3238-3245. View Abstract
53. Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency. JAMA Otolaryngol Head Neck Surg. 2024 Nov 01; 150(11):1038-1039. View Abstract
54. Genetics and precision genomics approaches to pulmonary hypertension. Eur Respir J. 2024 Oct; 64(4). View Abstract
55. Universal newborn screening using genome sequencing: early experience from the GUARDIAN study. Pediatr Res. 2025 Mar; 97(4):1315-1319. View Abstract
56. Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis. Sci Transl Med. 2024 Oct 16; 16(769):eadj0085. View Abstract
57. 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
58. 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
59. Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension. bioRxiv. 2024 Sep 22. View Abstract
60. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251. View Abstract
61. PLCG2 variants in cherubism. J Allergy Clin Immunol. 2024 Dec; 154(6):1554-1558. View Abstract
62. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. EBioMedicine. 2024 Sep; 107:105297. View Abstract
63. 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
64. 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
65. Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Nat Med. 2024 Oct; 30(10):2782-2786. View Abstract
66. 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
67. 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
68. Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT. J Biomed Inform. 2024 Sep; 157:104702. View Abstract
69. Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND). Am J Ophthalmol. 2024 Dec; 268:247-257. View Abstract
70. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Clin Genet. 2024 Nov; 106(5):574-584. View Abstract
71. Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay. Clin Kidney J. 2024 Aug; 17(8):sfae211. View Abstract
72. Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Neuroimage. 2024 Aug 15; 297:120721. View Abstract
73. Return of genetic research results in 21,532 individuals with autism. Genet Med. 2024 Oct; 26(10):101202. View Abstract
74. SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clin Genet. 2024 Oct; 106(4):448-461. View Abstract
75. Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. J Clin Invest. 2024 Jun 17; 134(12). View Abstract
76. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 06 06; 390(21):1985-1997. View Abstract
77. Promoting equity in clinical research: The role of social determinants of health. J Biomed Inform. 2024 Aug; 156:104663. View Abstract
78. 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
79. Pathogenic PHIP Variants are Variably Associated With CAKUT. Kidney Int Rep. 2024 Aug; 9(8):2484-2497. View Abstract
80. 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
81. Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs. Pediatr Cardiol. 2025 Apr; 46(4):798-803. View Abstract
82. Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder. medRxiv. 2024 May 05. View Abstract
83. 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
84. 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
85. Motor difficulties in 16p11.2 copy number variation. Autism Res. 2024 05; 17(5):906-916. View Abstract
86. GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts. ArXiv. 2024 Apr 22. View Abstract
87. 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
88. An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders. Int J Neonatal Screen. 2024 Apr 16; 10(2). View Abstract
89. 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
90. Risk factors affecting polygenic score performance across diverse cohorts. medRxiv. 2024 Apr 10. View Abstract
91. Improvement of variant reclassification in genetic neurodevelopmental conditions. Genet Med Open. 2024; 2:101845. View Abstract
92. Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions. J Autism Dev Disord. 2025 May; 55(5):1809-1823. View Abstract
93. 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
94. 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
95. Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder. Gait Posture. 2024 05; 110:77-83. View Abstract
96. 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
97. Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach. bioRxiv. 2024 Mar 13. View Abstract
98. 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
99. The clinical geneticist workforce: Community forums to address challenges and opportunities. Genet Med. 2024 06; 26(6):101121. View Abstract
100. SPARKing New Insight Into Autism Across the Lifespan. Am J Intellect Dev Disabil. 2024 Mar 01; 129(2):91-95. View Abstract
101. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2024 07; 194(7):e63578. View Abstract
102. Return of polygenic risk scores in research: Stakeholders' views on the eMERGE-IV study. HGG Adv. 2024 Apr 11; 5(2):100281. View Abstract
103. 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
104. 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
105. Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction. medRxiv. 2024 Feb 13. View Abstract
106. 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
107. Childhood physical activity and pubertal timing: findings from the LEGACY girls study. Int J Epidemiol. 2024 Feb 01; 53(1). View Abstract
108. Rescuing lung development through embryonic inhibition of histone acetylation. Sci Transl Med. 2024 01 31; 16(732):eadc8930. View Abstract
109. Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder. Clin Genet. 2024 05; 105(5):523-532. View Abstract
110. 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
111. 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
112. Health supervision for children and adolescents with 16p11.2 deletion syndrome. Cold Spring Harb Mol Case Stud. 2023 12; 9(4). View Abstract
113. 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
114. 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
115. Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data. Semin Oncol. 2023 Dec; 50(6):123-130. View Abstract
116. 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
117. 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
118. Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring. Child Care Health Dev. 2024 01; 50(1):e13212. View Abstract
119. 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
120. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034. View Abstract
121. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 12 01; 146(12):5031-5043. View Abstract
122. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nat Commun. 2023 11 30; 14(1):7836. View Abstract
123. Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Med. 2023 11 29; 15(1):102. View Abstract
124. 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
125. Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders. Res Sq. 2023 Nov 22. View Abstract
126. A novel RNF125 variant associated with Tenorio syndrome alters ubiquitin chain binding. Clin Genet. 2024 03; 105(3):254-261. View Abstract
127. Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups. Am J Med Genet A. 2024 03; 194(3):e63471. View Abstract
128. 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
129. Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity. NPJ Genom Med. 2023 Oct 21; 8(1):33. View Abstract
130. 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
131. 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
132. 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
133. 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
134. 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
135. Uncovering key clinical trial features influencing recruitment. J Clin Transl Sci. 2023; 7(1):e199. View Abstract
136. Caregiver-reported dental manifestations in individuals with genetic neurodevelopmental disorders. Int J Paediatr Dent. 2024 Mar; 34(2):145-152. View Abstract
137. 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
138. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Abstract
139. 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
140. Artificial intelligence and the impact on medical genetics. Am J Med Genet C Semin Med Genet. 2023 09; 193(3):e32060. View Abstract
141. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. medRxiv. 2023 Aug 04. View Abstract
142. Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders. Front Neurosci. 2023; 17:1106573. View Abstract
143. A deep intronic DLG4 variant resulting in DLG4-related synaptopathy. Clin Genet. 2024 01; 105(1):77-80. View Abstract
144. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 08 01; 146(8):3273-3288. View Abstract
145. 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
146. 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
147. 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
148. 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
149. Knowledge and beliefs about epilepsy genetics among Hispanic and non-Hispanic patients. Epilepsia. 2023 09; 64(9):2443-2453. View Abstract
150. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension. Genet Med. 2023 11; 25(11):100925. View Abstract
151. 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
152. Phenotypic effects of genetic variants associated with autism. Nat Med. 2023 07; 29(7):1671-1680. View Abstract
153. Newborn screening for Duchenne muscular dystrophy: A two-year pilot study. Ann Clin Transl Neurol. 2023 08; 10(8):1383-1396. View Abstract
154. 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
155. Studying the impact of translational genomic research: Lessons from eMERGE. Am J Hum Genet. 2023 07 06; 110(7):1021-1033. View Abstract
156. Association of antiseizure medication adherence with illness perceptions in adults with epilepsy. Epilepsy Behav. 2023 08; 145:109289. View Abstract
157. Cardiac imaging and biomarkers for assessing myocardial fibrosis in children with hypertrophic cardiomyopathy. Am Heart J. 2023 10; 264:153-162. View Abstract
158. Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations. medRxiv. 2023 Jun 05. View Abstract
159. Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes. J Pediatr. 2023 09; 260:113530. View Abstract
160. Response to Beretich and Beretich. Genet Med. 2023 Oct; 25(10):100903. View Abstract
161. Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis. HGG Adv. 2023 07 13; 4(3):100206. View Abstract
162. 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
163. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med. 2023 06; 16(3):224-231. View Abstract
164. A metadata framework for computational phenotypes. JAMIA Open. 2023 Jul; 6(2):ooad032. View Abstract
165. ARF1-related disorder: phenotypic and molecular spectrum. J Med Genet. 2023 10; 60(10):999-1005. View Abstract
166. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2. Br J Cancer. 2023 06; 128(12):2283-2294. View Abstract
167. 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
168. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View Abstract
169. Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes. Circ Genom Precis Med. 2023 06; 16(3):258-266. View Abstract
170. Extended regulation interface coupled to the allosteric network and disease mutations in the PP2A-B56d holoenzyme. bioRxiv. 2023 Apr 05. View Abstract
171. 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
172. FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. J Pediatr Genet. 2024 Mar; 13(1):29-34. View Abstract
173. 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
174. Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives. Genet Med. 2023 06; 25(6):100832. View Abstract
175. 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
176. Engineered cardiac tissue model of restrictive cardiomyopathy for drug discovery. Cell Rep Med. 2023 03 21; 4(3):100976. View Abstract
177. 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
178. 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
179. Predicted loss of function alleles in Bassoon (BSN) are associated with obesity. medRxiv. 2023 Feb 23. View Abstract
180. 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
181. 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
182. Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder. Front Neurosci. 2023; 17:1024388. View Abstract
183. 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
184. Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Sci Adv. 2023 02 17; 9(7):eade4814. View Abstract
185. 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
186. Practical considerations for reinterpretation of individual genetic variants. Genet Med. 2023 05; 25(5):100801. View Abstract
187. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. Genome Med. 2023 01 26; 15(1):7. View Abstract
188. SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants. Brief Bioinform. 2023 01 19; 24(1). View Abstract
189. 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
190. Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes. Hum Mol Genet. 2023 01 13; 32(3):473-488. View Abstract
191. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 04; 25(4):100006. View Abstract
192. 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
193. 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
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204. 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
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207. 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
208. 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
209. 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
210. 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
211. 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
212. 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
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218. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 09; 45(5):996-1012. View Abstract
219. Reproduction and genetic causal attribution of epilepsy. Epilepsia. 2022 09; 63(9):2392-2402. View Abstract
220. Women's thoughts on receiving and sharing genetic information: Considerations for genetic counseling. J Genet Couns. 2022 12; 31(6):1249-1260. View Abstract
221. Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial. JAMA Netw Open. 2022 07 01; 5(7):e2222092. View Abstract
222. Erratum: Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. HGG Adv. 2022 Jul 14; 3(3):100126. View Abstract
223. Mother and Daughter Perspectives on Genetic Counseling and Testing of Adolescents for Hereditary Breast Cancer Risk. J Pediatr. 2022 12; 251:113-119.e7. View Abstract
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229. 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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235. 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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237. Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies. Prenat Diagn. 2022 06; 42(7):947-954. View Abstract
238. Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 May; 30(5):630-631. View Abstract
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240. 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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242. 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
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245. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. Genet Med. 2022 Apr; 24(4):967. View Abstract
246. 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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249. 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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260. 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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262. Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. Circulation. 2022 03 22; 145(12):877-891. View Abstract
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270. 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
271. 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
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278. A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. N Engl J Med. 2021 09 30; 385(14):1292-1301. View Abstract
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281. Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes. Genome Med. 2021 09 09; 13(1):147. View Abstract
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292. 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
293. Clinical and genomic characterization of 8p cytogenomic disorders. Genet Med. 2021 12; 23(12):2342-2351. View Abstract
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295. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 10; 23(10):1838-1846. View Abstract
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297. Case Report: Esophageal Bronchus in a Neonate, With Image, Histological, and Molecular Analysis. Front Pediatr. 2021; 9:707822. View Abstract
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300. 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
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302. 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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320. 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
321. 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
322. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr; 23(4):796. View Abstract
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326. 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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328. Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress. Autism Res. 2021 06; 14(6):1209-1219. View Abstract
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330. Prepubertal Internalizing Symptoms and Timing of Puberty Onset in Girls. Am J Epidemiol. 2021 02 01; 190(3):431-438. View Abstract
331. 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
332. Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder. Neurol Genet. 2021 Feb; 7(1):e551. View Abstract
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335. 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
336. Weight-loss response to naltrexone/bupropion is modulated by the Taq1A genetic variant near DRD2 (rs1800497): A pilot study. Diabetes Obes Metab. 2021 03; 23(3):850-853. View Abstract
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341. 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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344. 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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359. 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
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366. 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
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373. A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. J Med Genet. 2021 09; 58(9):592-601. View Abstract
374. Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias. HGG Adv. 2020 Oct 22; 1(1). View Abstract
375. Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation. Ann Neurol. 2020 11; 88(5):1028-1033. View Abstract
376. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 11; 43(6):1333-1348. View Abstract
377. Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. Am J Hum Genet. 2020 09 03; 107(3):432-444. View Abstract
378. 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
379. Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes. Genet Med. 2020 12; 22(12):2020-2028. View Abstract
380. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum. Am J Hum Genet. 2020 09 03; 107(3):499-513. View Abstract
381. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). Hum Mutat. 2020 10; 41(10):1761-1774. View Abstract
382. Participant choices for return of genomic results in the eMERGE Network. Genet Med. 2020 11; 22(11):1821-1829. View Abstract
383. 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
384. Language characterization in 16p11.2 deletion and duplication syndromes. Am J Med Genet B Neuropsychiatr Genet. 2020 09; 183(6):380-391. View Abstract
385. Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. Eur J Hum Genet. 2021 01; 29(1):122-130. View Abstract
386. 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
387. 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
388. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet. 2020 08; 52(8):769-777. View Abstract
389. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Autism Res. 2020 08; 13(8):1300-1310. View Abstract
390. SARS-CoV-2 Infection in Patients with Down Syndrome, Congenital Heart Disease, and Pulmonary Hypertension: Is Down Syndrome a Risk Factor? J Pediatr. 2020 Oct; 225:246-248. View Abstract
391. An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy. Hum Mutat. 2020 09; 41(9):1577-1587. View Abstract
392. Pediatric genetics: rare is common. Cold Spring Harb Mol Case Stud. 2020 06; 6(3). View Abstract
393. COVID-19's Impact on Genetics at One Medical Center in New York. Genet Med. 2020 09; 22(9):1467-1469. View Abstract
394. 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
395. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genet Med. 2020 08; 22(8):1296-1302. View Abstract
396. 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
397. 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
398. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. View Abstract
399. The polygenic architecture of left ventricular mass mirrors the clinical epidemiology. Sci Rep. 2020 05 05; 10(1):7561. View Abstract
400. Insufficient Evidence for "Autism-Specific" Genes. Am J Hum Genet. 2020 05 07; 106(5):587-595. View Abstract
401. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Med. 2020 04 29; 12(1):42. View Abstract
402. Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. J Pers Med. 2020 Apr 27; 10(2). View Abstract
403. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nat Rev Genet. 2020 06; 21(6):367-376. View Abstract
404. A qualitative study of Latinx parents' experiences of clinical exome sequencing. J Genet Couns. 2020 08; 29(4):574-586. View Abstract
405. 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
406. 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
407. 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
408. Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders. Pediatr Res. 2020 11; 88(5):761-768. View Abstract
409. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet. 2020 04 02; 106(4):467-483. View Abstract
410. Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension. Circulation. 2020 06 16; 141(24):1986-2000. View Abstract
411. 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
412. 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
413. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol. 2020 07; 44(5):442-468. View Abstract
414. 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
415. 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
416. Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension. Chest. 2020 05; 157(5):1287-1295. View Abstract
417. 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
418. Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. Pediatr Pulmonol. 2021 03; 56(3):614-620. View Abstract
419. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020 01; 52(1):56-73. View Abstract
420. Can Clinical Genetics Laboratories be Sued for Medical Malpractice? Ann Health Law Life Sci. 2020; 29(1):153-172. View Abstract
421. The genetics of isolated congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):97-106. View Abstract
422. 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
423. Developing effective and efficient genomic educational tools for our diverse population. Ann Transl Med. 2019 Dec; 7(Suppl 8):S304. View Abstract
424. 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
425. 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
426. Psychotic symptoms in 16p11.2 copy-number variant carriers. Autism Res. 2020 02; 13(2):187-198. View Abstract
427. 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
428. 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
429. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. NPJ Breast Cancer. 2019; 5:38. View Abstract
430. 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
431. Comparative outcomes of right versus left congenital diaphragmatic hernia: A multicenter analysis. J Pediatr Surg. 2020 Jan; 55(1):33-38. View Abstract
432. 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
433. 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
434. Is there a duty to reinterpret genetic data? The ethical dimensions. Genet Med. 2020 03; 22(3):633-639. View Abstract
435. 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
436. Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families. Epilepsia. 2019 11; 60(11):2286-2293. View Abstract
437. 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
438. 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
439. 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
440. 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
441. 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
442. 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
443. Impact of patient education videos on genetic counseling outcomes after exome sequencing. Patient Educ Couns. 2020 01; 103(1):127-135. View Abstract
444. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019; 4:19. View Abstract
445. Clinical and genetic characterization of individuals with predicted deleterious PHIP variants. Cold Spring Harb Mol Case Stud. 2019 08; 5(4). View Abstract
446. The influence of genetics in congenital diaphragmatic hernia. Semin Perinatol. 2020 02; 44(1):151169. View Abstract
447. 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
448. Applying Deep Neural Network Analysis to High-Content Image-Based Assays. SLAS Discov. 2019 09; 24(8):829-841. View Abstract
449. Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers. J Neurosci. 2019 09 11; 39(37):7321-7331. View Abstract
450. 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
451. 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
452. 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
453. 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
454. 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
455. 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
456. 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
457. Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing. Ann Intern Med. 2019 06 04; 170(11):796-804. View Abstract
458. 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
459. 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
460. Precision Medicine in Internal Medicine. Ann Intern Med. 2019 05 07; 170(9):635-642. View Abstract
461. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. Neurogenetics. 2019 08; 20(3):129-143. View Abstract
462. 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
463. 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
464. 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
465. 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
466. 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
467. United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. Pulm Circ. 2019 Apr-Jun; 9(2):2045894019851696. View Abstract
468. 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
469. Rethinking the "open future" argument against predictive genetic testing of children. Genet Med. 2019 10; 21(10):2190-2198. View Abstract
470. Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication. Transl Psychiatry. 2019 03 05; 9(1):107. View Abstract
471. Response to Wang et al. Genet Med. 2019 09; 21(9):2158. View Abstract
472. 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
473. 10-year performance of four models of breast cancer risk: a validation study. Lancet Oncol. 2019 04; 20(4):504-517. View Abstract
474. 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
475. SMPD1 mutations, activity, and a-synuclein accumulation in Parkinson's disease. Mov Disord. 2019 04; 34(4):526-535. View Abstract
476. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089. View Abstract
477. A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR. NPJ Genom Med. 2019; 4:3. View Abstract
478. 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
479. 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
480. Genetics and genomics of pulmonary arterial hypertension. Eur Respir J. 2019 01; 53(1). View Abstract
481. 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
482. 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
483. 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
484. Psychiatric disorders in children with 16p11.2 deletion and duplication. Transl Psychiatry. 2019 01 16; 9(1):8. View Abstract
485. 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
486. 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
487. 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
488. Response to Evans et al. Genet Med. 2019 08; 21(8):1880-1881. View Abstract
489. 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
490. 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
491. 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
492. 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
493. 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
494. 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
495. 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
496. 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
497. Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension. Circ Genom Precis Med. 2018 10; 11(10):e002087. View Abstract
498. 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
499. 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
500. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Hum Mutat. 2018 12; 39(12):1875-1884. View Abstract
501. 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
502. Increasing genomic literacy among adolescents. Genet Med. 2019 04; 21(4):994-1000. View Abstract
503. 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
504. 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
505. Stereotactic radiosurgery for hypervascular intracranial tumors. J Neurooncol. 2018 Dec; 140(3):547-558. View Abstract
506. 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
507. Parental perceptions of prenatal whole exome sequencing (PPPWES) study. Prenat Diagn. 2018 10; 38(11):801-811. View Abstract
508. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome. Am J Med Genet A. 2018 08; 176(8):1773-1777. View Abstract
509. Laboratory considerations for prenatal genetic testing. Semin Perinatol. 2018 08; 42(5):307-313. View Abstract
510. Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing. Prenat Diagn. 2018 09; 38(10):740-747. View Abstract
511. Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. Genome Med. 2018 07 20; 10(1):56. View Abstract
512. Recurrent diffuse lung disease due to surfactant protein C deficiency. Respir Med Case Rep. 2018; 25:91-95. View Abstract
513. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018 Jul 13; 6(3). View Abstract
514. 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
515. 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
516. 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
517. 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
518. 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
519. Assessing patient readiness for personalized genomic medicine. J Community Genet. 2019 Jan; 10(1):109-120. View Abstract
520. Response to ten Broeke et al. Genet Med. 2019 01; 21(1):258-259. View Abstract
521. Progress in Understanding and Treating SCN2A-Mediated Disorders. Trends Neurosci. 2018 07; 41(7):442-456. View Abstract
522. 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
523. 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
524. Breast cancer family history and allele-specific DNA methylation in the legacy girls study. Epigenetics. 2018; 13(3):240-250. View Abstract
525. Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Circ Genom Precis Med. 2018 04; 11(4):e001887. View Abstract
526. 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
527. 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
528. 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
529. 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
530. 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
531. 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
532. Robust identification of mosaic variants in congenital heart disease. Hum Genet. 2018 Feb; 137(2):183-193. View Abstract
533. Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 02 02; 9(1):554. View Abstract
534. FTO genotype impacts food intake and corticolimbic activation. Am J Clin Nutr. 2018 02 01; 107(2):145-154. View Abstract
535. Early Stereotactic Radiosurgery for Medically Refractory Trigeminal Neuralgia. World Neurosurg. 2018 Apr; 112:e569-e575. View Abstract
536. The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One. 2018; 13(1):e0191319. View Abstract
537. 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
538. 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
539. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 01 04; 9(1):67. View Abstract
540. 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
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542. Examining the Psychosocial Impact of Genetic Testing for Cardiomyopathies. J Genet Couns. 2018 08; 27(4):927-934. View Abstract
543. Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience. Front Pediatr. 2017; 5:265. View Abstract
544. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017 Dec; 82(6):1004-1015. View Abstract
545. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 02; 176(2):311-318. View Abstract
546. Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study. J Genet Couns. 2018 06; 27(3):709-722. View Abstract
547. 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
548. 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
549. 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
550. 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
551. 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
552. 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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578. 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
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587. 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
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603. 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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606. 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
607. The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History. Epidemiology. 2016 May; 27(3):438-48. View Abstract
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613. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 07; 17(3):159-64. View Abstract
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615. SCARB2 variants and glucocerebrosidase activity in Parkinson's disease. NPJ Parkinsons Dis. 2016; 2. View Abstract
616. 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
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624. 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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627. 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
628. Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society. Circulation. 2015 Nov 24; 132(21):2037-99. View Abstract
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653. 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
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744. 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
745. SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One. 2013; 8(4):e60113. View Abstract
746. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013; 9(3):e1003212. View Abstract
747. Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. Nat Genet. 2013 May; 45(5):518-21. View Abstract
748. Risk of pancreatic cancer in breast cancer families from the breast cancer family registry. Cancer Epidemiol Biomarkers Prev. 2013 May; 22(5):803-11. View Abstract
749. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res. 2013 Feb 15; 112(4):698-706. View Abstract
750. Outcomes of congenital diaphragmatic hernia in the modern era of management. J Pediatr. 2013 Jul; 163(1):114-9.e1. View Abstract
751. Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation. Hum Genet. 2013 May; 132(5):523-36. View Abstract
752. Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics. J Gen Physiol. 2013 Jan; 141(1):61-72. View Abstract
753. Cancer genetic counselor information needs for risk communication: a qualitative evaluation of interview transcripts. J Pers Med. 2013; 3(3). View Abstract
754. Views of internists towards uses of PGD. Reprod Biomed Online. 2013 Feb; 26(2):142-7. View Abstract
755. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012 Dec 07; 91(6):987-97. View Abstract
756. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet. 2013 Mar; 132(3):285-92. View Abstract
757. Effectiveness of a school district closure for pandemic influenza A (H1N1) on acute respiratory illnesses in the community: a natural experiment. Clin Infect Dis. 2013 Feb; 56(4):509-16. View Abstract
758. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012 Oct 30; 79(18):1889-97. View Abstract
759. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet. 2012 Oct; 49(10):660-8. View Abstract
760. De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet. 2012 Oct; 49(10):650-9. View Abstract
761. How fast can a choroid plexus papilloma grow? J Formos Med Assoc. 2014 Aug; 113(8):569-70. View Abstract
762. A public resource facilitating clinical use of genomes. Proc Natl Acad Sci U S A. 2012 Jul 24; 109(30):11920-7. View Abstract
763. Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations. Laryngoscope. 2012 Sep; 122(9):2082-7. View Abstract
764. A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012 Aug; 21(8):1362-70. View Abstract
765. Attitudes and practices among internists concerning genetic testing. J Genet Couns. 2013 Feb; 22(1):90-100. View Abstract
766. Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. Circ Cardiovasc Genet. 2012 Jun; 5(3):336-43. View Abstract
767. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012 Apr; 21(4):645-57. View Abstract
768. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. View Abstract
769. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. Hum Mutat. 2012 Apr; 33(4):690-702. View Abstract
770. Common variants in the CD36 gene are associated with oral fat perception, fat preferences, and obesity in African Americans. Obesity (Silver Spring). 2012 May; 20(5):1066-73. View Abstract
771. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol. 2011 Dec; 70(6):996-1005. View Abstract
772. Severe dilated cardiomyopathy in a patient with myotonic dystrophy type 2 and homozygous repeat expansion in ZNF9. Congest Heart Fail. 2012 May-Jun; 18(3):183-6. View Abstract
773. 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
774. Novel SLC39A4 mutation in acrodermatitis enteropathica. Pediatr Dermatol. 2011 Nov-Dec; 28(6):697-700. View Abstract
775. Similarity-based disease risk assessment for personal genomes: proof of concept. AMIA Annu Symp Proc. 2011; 2011:1524-31. View Abstract
776. An overview of mongenic and syndromic obesities in humans. Pediatr Blood Cancer. 2012 Jan; 58(1):122-8. View Abstract
777. Clinical and molecular genetic features of hereditary pulmonary arterial hypertension. Compr Physiol. 2011 Oct; 1(4):1721-8. View Abstract
778. 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
779. Intragenic deletion as a novel type of mutation in Wolman disease. Mol Genet Metab. 2011 Dec; 104(4):703-5. View Abstract
780. 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
781. 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
782. 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
783. Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease. JIMD Rep. 2011; 1:79-82. View Abstract
784. 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
785. Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. Circulation. 2011 May 31; 123(21):2353-62. View Abstract
786. 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
787. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol. 2011 May; 44(5):317-27. View Abstract
788. 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
789. 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
790. Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death. Cardiol Young. 2011 Jun; 21(3):345-8. View Abstract
791. Global DNA methylation levels in girls with and without a family history of breast cancer. Epigenetics. 2011 Jan; 6(1):29-33. View Abstract
792. 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
793. 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
794. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol. 2010 Dec; 68(6):955-8. View Abstract
795. 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
796. 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
797. 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
798. 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
799. Enalapril in infants with single ventricle: results of a multicenter randomized trial. Circulation. 2010 Jul 27; 122(4):333-40. View Abstract
800. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010 Jul; 12(7):446-63. View Abstract
801. 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
802. 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
803. 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
804. 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
805. 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
806. 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
807. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2009 Jun 30; 54(1 Suppl):S32-S42. View Abstract
808. Gamma knife radiosurgery for the treatment of recurrent seizures after incomplete anterior temporal lobectomy. Seizure. 2009 Sep; 18(7):511-4. View Abstract
809. 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
810. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 2009 Jun; 29(6):560-9. View Abstract
811. 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
812. 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
813. 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
814. Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2. Neurobiol Dis. 2009 Mar; 33(3):499-508. View Abstract
815. 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
816. Considerations regarding the genetics of obesity. Obesity (Silver Spring). 2008 Dec; 16 Suppl 3:S33-9. View Abstract
817. Functional consequences of the human leptin receptor (LEPR) Q223R transversion. Obesity (Silver Spring). 2009 Jan; 17(1):126-35. View Abstract
818. 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
819. 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
820. 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
821. 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
822. 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
823. Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in mice. PLoS Genet. 2008 Jul 25; 4(7):e1000137. View Abstract
824. 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
825. 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
826. Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda. Reprod Biomed Online. 2008; 17 Suppl 1:33-42. View Abstract
827. 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
828. 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
829. RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy. Hum Genet. 2007 Dec; 122(5):515-23. View Abstract
830. Implementation of genetics to personalize medicine. Gend Med. 2007 Sep; 4(3):248-65. View Abstract
831. 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
832. 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
833. 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
834. 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
835. Decision-making about reproductive choices among individuals at-risk for Huntington's disease. J Genet Couns. 2007 Jun; 16(3):347-62. View Abstract
836. 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
837. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. View Abstract
838. 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
839. Gene expression patterns in blood leukocytes discriminate patients with acute infections. Blood. 2007 Mar 01; 109(5):2066-77. View Abstract
840. The links between obesity, leptin, and prostate cancer. Cancer J. 2006 May-Jun; 12(3):178-81. View Abstract
841. 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
842. 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
843. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatr Dev Pathol. 2005 Nov-Dec; 8(6):706-9. View Abstract
844. Primary pediatric brain tumors: statistics of Taipei VGH, Taiwan (1975-2004). Cancer. 2005 Nov 15; 104(10):2156-67. View Abstract
845. Molecular physiology of syndromic obesities in humans. Trends Endocrinol Metab. 2005 Aug; 16(6):267-72. View Abstract
846. 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
847. 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
848. Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genet Med. 2005 Feb; 7(2):111-8. View Abstract
849. Gamma knife surgery for vestibular schwannoma: 10-year experience of 195 cases. J Neurosurg. 2005 Jan; 102 Suppl:87-96. View Abstract
850. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat. 2004 Oct; 24(4):312-20. View Abstract
851. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr; 14(4):253-60. View Abstract
852. Foamy podocytes. Am J Kidney Dis. 2003 Apr; 41(4):891-6. View Abstract
853. The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein. J Clin Invest. 2002 Nov; 110(10):1449-59. View Abstract
854. 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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