Information

Related Research Units

Congenital Diaphragmatic Hernia Research
Intellectual and Developmental Disabilities Research Center Research
Genetics and Genomics Research

Research Overview

Dr. Chung performs genetic research of monogenic and complex traits including diseases such as autism, neurodevelopmental disorders, congenital heart disease, congenital diaphragmatic hernia, esophageal atresia/trachea esophageal fistula, pulmonary hypertension, cardiomyopathies, breast cancer, diabetes, and obesity. She has an h-index of 133 and has identified the genetic basis for over 60 novel human Mendelian conditions and described the clinical phenotype of these diseases. She has made a significant contribution to improving the understanding of the genomic basis for human conditions and implementing that knowledge into clinical care. She has led many genomic studies of autism and neurodevelopmental disorders including SPARK and Simons Searchlight.

She leads multicenter genomic studies of congenital anomalies including DHREAMS and CARE and the Pediatric Cardiac Genomics Consortium. She has worked with teams that developed computational methods to predict pathogenicity of missense variants and inframe indels. She has developed AI methods to improve variant interpretation, integrate multiple data types into integrated risk scores, and translated risk predictions into communications providers and patients understand across a wide range of patients.

Dr. Chung has worked on clinical implementation of genomic medicine through eMERGE and used BOADICEA as a breast cancer risk prediction tool across many genetic ancestries. She is the PI of GUARDIAN (Genomic Uniform screening Against Rare Diseases In All Newborns) using genome sequencing to pilot the expansion of conditions included in newborn screening to work towards earlier diagnosis and treatment and greater health equity.

She has been also involved in clinical trials of treatment for rare diseases including N of 1 treatments using ASOs for neurological conditions including KIF1A associated neurological disorder. She extensive experience diagnosing undiagnosed patients using advanced genomic methods.

Research Background

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, breast cancer, obesity, diabetes, autism, birth defects including congenital diaphragmatic hernia, esophageal atresia, and congenital heart disease. She is a national leader in the ethical, legal, and social implications of genomics.

She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung received her B.A. in biochemistry from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.

Selected Publications

  1. Zhou X., Feliciano P., Shu C., Wang T., Astrovskaya I., Hall J.B., Obiajulu J.U., Wright J.R., Murali S.C., Xu S.X., Brueggeman L., Thomas T.R., Marchenko O., Fleisch C., Barns S.D., Snyder L.G., Han B., Chang T.S., Turner T.N., Harvey W.T., Nishida A., O'Roak B.J., Geschwind D.H.; SPARK Consortium; Michaelson J.J., Volfovsky N., Eichler E.E., Shen Y., Chung W.K. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature Genetics. 2022 Sep;54(9):1305-1319. PMID: 35982159 PMCID: PMC9470534
  2. Ziegler, A. Carroll, J. Bain, J.M., Sands, T.T., Fee, R.J., Uher, D., Kanner, C.H., Montes, J., Glass, S., Douville, J., Mignon, L., Gleeson, J.G., Crooke, S.T., Chung, W.K. Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Nature Medicine. 30(10):2782-2786. 2024. PMID: 39122967
  3. Qiao, L., Wynn, J., Yu, L., Hernan, R., Zhou, X., Duron, V., Aspelund, G., Farkouh-Karoleski, C., Zygumunt, A., Krishman, U.S., Nees, S., Khlevner, J., Lim, F.Y., Crombleholme, T., Cusick, R., Azarow, K., Danko, M.E., Chung, D., Warner, B.W., Mychaliska, G.B., Potoka, D., Wagner, A.J., Soffer, S., Schindel, D., McCulley, D.J., Shen, Y., Chung, W.K. Likely Damaging De Novo Variants in Congenital Diaphragmatic Hernia Patients are Associated with Worse Clinical Outcomes. Genetics in Medicine. 2020 Jul 28. doi: 10.1038/s41436-020-0908-0. PMID: 32719394.
  4. Zhu, N., Welch, C.L., Wang, J., Allen, P.M., Gonzaga-Jauregui, C., Ma, L., King, A.K., Krishnan, U., Rosenzweig, E.B., Ivy, D.D., Austin, E.D., Hamid, R., Pauciulo, M.W., Lutz, K.A., Nichols, W.C., Reid, J.G., Overton, J.D., Baras, A., Dwey, F.E., Shen, Y., Chung, W.K. Rare Variants in SOX17 are Associated with Pumonary Arterial Hypertension with Congenital Heart Disease. Genome Med. 10(1):56, 2018. PMID: 30029678. PMCID: PMC6054746.
  5. Zhu, N., Swietlik, E.M., Welch, C.L., Pauciulo, M. W., Hagen, J.J., Zhou, X. Guo, Y., Karten J., Pandya, D., Tilly, T., Lutz, K., Rosenzweig, E.B., Krishnan, U., Coleman, A.W., Juaregui, C.G., Lawire, A., Trembath R. C., Wilkins, M. R., Morrell, N., Shen, y., Graf, Nicols, W., Chung, W.K. Rare Variant Analysis Of 4,241 Pulmonary Arterial Hypertension Cases From An International Consortium Implicates FBLN2, PDGFD, And Rare De Novo Variants In PAH. Genome Med. 2021 May 10;13(1):80. doi: 10.1186/s13073-021-00891-1. PMID: 33971972. PMCID: PMC8112021
  6. Ma, L., Roman-Campos, D., Austin, E.D.., Chung, W.K. A Novel Channelopathy in Pulmonary Arterial Hypertension. N Engl J Med. 369(4):351-361, 2013. PMID: 23883380. PMCID: PMC379222
  7. Homsy, J., Zaidi, S., Shen, Y., Ware, J.S., Samocha, K.E., Karczewski, K.J., DePalma, S.R., McKean, D., Wakimoto, H., Gorham, J., Jin, S.C., Deanfield, J., Giardini, A., Porter, G., Kim, R., Bilguvar, K., Lopez, F., Mane, S., Romano-Adesman, A., Qi, H., Vardarajan, B., Ma, L., Daly, M., Roberts, A.E., Russell, M.W., Mital, S., Newburger, J.W., Gaynor, J.W., Breitbart, R.E., Iossifov, I., Ronemus, M., Sanders, S.J., Kaltman, J.R., Seidman, J.G., Gelb, B.D., Goldmuntz, E., Brueckner, M., Lifton, R.P., Seidman, C.E., Chung, W.K. De Novo Mutations in Congenital Heart Disease with Neurodevelopmental and other Congenital Anomalies. Science. 350:1262-1266, 2015. PMCID: PMC4890146
  8. Ziegler A, Koval-Burt C, Kay DM, Suchy SF, Begtrup A, Langley KG, Hernan R, Amendola LM, Boyd BM, Bradley J, Brandt T, Cohen LL, Coffey AJ, Devaney JM, Dygulska B, Friedman B, Fuleihan RL, Gyimah A, Hahn S, Hofherr S, Hruska KS, Hu Z, Jeanne M, Jin G, Johnson DA, Kavus H, Leibel RL, Lobritto SJ, McGee S, Milner JD, McWalter K, Monaghan KG, Orange JS, Pimentel Soler N, Quevedo Y, Ratner S, Retterer K, Shah A, Shapiro N, Sicko RJ, Silver ES, Strom S, Torene RI, Williams O, Ustach VD, Wynn J, Taft RJ, Kruszka P, Caggana M, Chung WK. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA. 2025 Jan 21;333(3):232-240.

Education

Undergraduate School

Cornell University
1990 Ithaca NY

Graduate School

Rockefeller University
1996 New York NY

Medical School

Cornell University Medical College
1998 New York NY

Internship

Pediatrics Columbia Presbyterian Medical Center
1999 New York NY

Residency

Pediatrics Columbia Presbyterian Medical Center
2000 New York NY

Fellowship

Clinical Genetics; Molecular Genetics Columbia Presbyterian Medical Center
2003 New York NY

Publications

  1. Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension. J Med Genet. 2026 Mar 20; 63(4):225-234. View Abstract
  2. Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. HGG Adv. 2026 Feb 18; 7(2):100582. View Abstract
  3. Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits. Brain. 2026 Feb 17. View Abstract
  4. Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease. Commun Med (Lond). 2026 Feb 06; 6(1). View Abstract
  5. Dysregulated TGFß-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis. bioRxiv. 2026 Jan 20. View Abstract
  6. Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro. Nat Commun. 2026 Jan 09; 17(1):1109. View Abstract
  7. Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. Nat Cardiovasc Res. 2026 Jan; 5(1):51-66. View Abstract
  8. Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies. Res Sq. 2025 Dec 30. View Abstract
  9. Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis. Res Sq. 2025 Dec 30. View Abstract
  10. Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing. Cancers (Basel). 2025 Dec 09; 17(24). View Abstract
  11. The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies. Prenat Diagn. 2025 Dec 03. View Abstract
  12. Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO). Bone. 2026 Mar; 204:117744. View Abstract
  13. Returning aggregate research results to participants: a scoping review of current practices, preferences and challenges. BMJ Open. 2025 Nov 29; 15(11):e107270. View Abstract
  14. Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro. Mol Psychiatry. 2026 Apr; 31(4):2178-2190. View Abstract
  15. Exploring RBFOX2 Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome. Circ Genom Precis Med. 2025 Dec; 18(6):e005231. View Abstract
  16. Impact of genomic sequencing information on physicians' treatment recommendations for children with congenital heart disease. Genet Med Open. 2025; 3:103470. View Abstract
  17. Digital health technology use in clinical trials of rare diseases: a systematic review. Commun Med (Lond). 2025 Oct 31; 5(1):449. View Abstract
  18. BBB-penetrant tyrosine kinase inhibitor plus intracranial radiotherapy vs BBB-penetrant TKI alone in Asians with EGFR-mutated lung adenocarcinoma and brain metastases. J Chin Med Assoc. 2025 Dec 01; 88(12):933-940. View Abstract
  19. Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder. Am J Hum Genet. 2025 Nov 06; 112(11):2643-2664. View Abstract
  20. Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies. Res Sq. 2025 Oct 17. View Abstract
  21. A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report. Case Rep Genet. 2025; 2025:4041217. View Abstract
  22. Toward Same-Day Genome Sequencing in the Critical Care Setting. N Engl J Med. 2025 Nov 20; 393(20):2063-2065. View Abstract
  23. Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy. J Clin Invest. 2025 Dec 01; 135(23). View Abstract
  24. SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder. Nat Commun. 2025 Oct 10; 16(1):9021. View Abstract
  25. Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome. J Clin Endocrinol Metab. 2025 Sep 16; 110(10):e3271-e3282. View Abstract
  26. Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities. J Community Genet. 2025 Dec; 16(6):799-812. View Abstract
  27. SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons. Brain. 2025 Sep 03; 148(9):3300-3313. View Abstract
  28. Machine learning-based penetrance of genetic variants. Science. 2025 Aug 28; 389(6763):eadm7066. View Abstract
  29. Gamma knife radiosurgery for breast cancer brain metastasis: survival outcomes, prognotic factors, and the role of repeat treatment. J Neurooncol. 2025 Dec; 175(3):1401-1413. View Abstract
  30. Mitochondrial Lon Peptidase 1 Controls Diaphragm and Lung Development in a Context-Dependent Manner. J Respir Biol Transl Med. 2025; 2(3). View Abstract
  31. Clinical Integration of NIR-II Fluorescence Imaging for Cancer Surgery: A Translational Evaluation of Preclinical and Intraoperative Systems. Cancers (Basel). 2025 Aug 17; 17(16). View Abstract
  32. PreMode predicts mode-of-action of missense variants by deep graph representation learning of protein sequence and structural context. Nat Commun. 2025 Aug 05; 16(1):7189. View Abstract
  33. Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy. Brain. 2025 Aug 01; 148(8):2797-2811. View Abstract
  34. Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder. Clin Genet. 2026 Feb; 109(2):233-242. View Abstract
  35. Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar. Hum Mutat. 2025; 2025:2475635. View Abstract
  36. Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease. HGG Adv. 2025 Oct 09; 6(4):100478. View Abstract
  37. A Pilot Meta-research on Evolving Evidence Behind Genetic Variant (Re)Classification. medRxiv. 2025 Jul 03. View Abstract
  38. ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025 Aug; 27(8):101454. View Abstract
  39. Using large-scale population-based data to improve disease risk assessment of clinical variants. Nat Genet. 2025 Jul; 57(7):1588-1597. View Abstract
  40. Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study. medRxiv. 2025 May 23. View Abstract
  41. Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in Xenopus trachea-esophageal morphogenesis. Dev Cell. 2025 Sep 22; 60(18):2487-2502.e4. View Abstract
  42. Prenatal genomic sequencing: Navigating uncertainty. Semin Perinatol. 2025 Apr; 49(3):152058. View Abstract
  43. 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
  44. Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation. Genet Med. 2025 Aug; 27(8):101457. View Abstract
  45. Understanding speech and language in KIF1A-associated neurological disorder. Eur J Hum Genet. 2026 Jan; 34(1):78-89. View Abstract
  46. Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genet Med. 2025 Jul; 27(7):101443. View Abstract
  47. Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown. HGG Adv. 2025 Jul 10; 6(3):100450. View Abstract
  48. Opportunities and Challenges of Fetal Gene Therapy. Prenat Diagn. 2025 06; 45(6):764-771. View Abstract
  49. 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
  50. Genomic newborn screening: exploring opportunities and navigating pitfalls while ensuring inclusivity. Trends Genet. 2025 Aug; 41(8):631-634. View Abstract
  51. Understanding individualised genetic interventions as research-treatment hybrids. J Med Ethics. 2025 Apr 24; 51(5). View Abstract
  52. 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
  53. A probabilistic graphical model for estimating selection coefficient of nonsynonymous variants from human population sequence data. medRxiv. 2025 Apr 11. View Abstract
  54. Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder. Brain. 2025 Apr 03; 148(4):1194-1211. View Abstract
  55. The new newborn screening. Nat Med. 2025 Apr; 31(4):1075-1076. View Abstract
  56. Efficient identification of de novo mutations in family trios: a consensus-based informatic approach. Life Sci Alliance. 2025 Jun; 8(6). View Abstract
  57. Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism. J Mol Diagn. 2025 Jun; 27(6):525-537. View Abstract
  58. Newborn Screening Using Genome Sequencing for Early Actionable Conditions-Reply. JAMA. 2025 Mar 25; 333(12):1088. View Abstract
  59. 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
  60. A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles. JCI Insight. 2025 Apr 22; 10(8). View Abstract
  61. Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder. Genet Med Open. 2025; 3:103425. View Abstract
  62. Systematic method for classifying multiple congenital anomaly cases in electronic health records. Genet Med. 2025 Jun; 27(6):101415. View Abstract
  63. 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
  64. GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. Elife. 2025 Mar 13; 13. View Abstract
  65. 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
  66. 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
  67. Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease. Med Image Anal. 2025 May; 102:103538. View Abstract
  68. 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
  69. 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
  70. MYRF is Essential in Mesothelial Cells to Promote Lung Development and Maturation. bioRxiv. 2025 Feb 14. View Abstract
  71. 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
  72. Comparison of autism domains across thirty rare variant genotypes. EBioMedicine. 2025 Feb; 112:105521. View Abstract
  73. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025 Apr; 27(4):101369. View Abstract
  74. Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. bioRxiv. 2025 Jan 28. View Abstract
  75. Risk factors affecting polygenic score performance across diverse cohorts. Elife. 2025 Jan 24; 12. View Abstract
  76. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions. JAMA. 2025 01 21; 333(3):232-240. View Abstract
  77. Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy. medRxiv. 2025 Jan 17. View Abstract
  78. GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis. bioRxiv. 2025 Jan 11. View Abstract
  79. Clinical outcomes and cost-utility analysis of GKRS plus TKIs versus TKIs in patients with EGFR-mutant lung adenocarcinoma and brain metastases: a Markov decision model. J Neurosurg. 2025 Jun 01; 142(6):1710-1719. View Abstract
  80. 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
  81. 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
  82. DNA Sequencing in Newborn Screening: Opportunities, Challenges, and Future Directions. Clin Chem. 2025 Jan 03; 71(1):77-86. View Abstract
  83. 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
  84. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience. 2025 Feb 21; 28(2):111707. View Abstract
  85. 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
  86. 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
  87. Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesis. bioRxiv. 2024 Dec 02. View Abstract
  88. SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome. J Pediatr. 2025 Mar; 278:114422. View Abstract
  89. 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
  90. Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. NPJ Digit Med. 2024 Nov 21; 7(1):333. View Abstract
  91. Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery. medRxiv. 2024 Nov 15. View Abstract
  92. 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
  93. Motor phenotypes associated with genetic neurodevelopmental disorders. Ann Clin Transl Neurol. 2024 Dec; 11(12):3238-3245. View Abstract
  94. Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency. JAMA Otolaryngol Head Neck Surg. 2024 Nov 01; 150(11):1038-1039. View Abstract
  95. Genetics and precision genomics approaches to pulmonary hypertension. Eur Respir J. 2024 Oct; 64(4). View Abstract
  96. Universal newborn screening using genome sequencing: early experience from the GUARDIAN study. Pediatr Res. 2025 Mar; 97(4):1315-1319. View Abstract
  97. Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis. Sci Transl Med. 2024 10 16; 16(769):eadj0085. View Abstract
  98. 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
  99. 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
  100. Role of Forkhead box F1 in the Pathobiology of Pulmonary Arterial Hypertension. bioRxiv. 2024 Sep 22. View Abstract
  101. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251. View Abstract
  102. PLCG2 variants in cherubism. J Allergy Clin Immunol. 2024 Dec; 154(6):1554-1558. View Abstract
  103. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3. EBioMedicine. 2024 Sep; 107:105297. View Abstract
  104. 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
  105. 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
  106. Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Nat Med. 2024 Oct; 30(10):2782-2786. View Abstract
  107. 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
  108. 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
  109. Rare disease diagnosis using knowledge guided retrieval augmentation for ChatGPT. J Biomed Inform. 2024 09; 157:104702. View Abstract
  110. Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND). Am J Ophthalmol. 2024 Dec; 268:247-257. View Abstract
  111. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Clin Genet. 2024 Nov; 106(5):574-584. View Abstract
  112. Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay. Clin Kidney J. 2024 Aug; 17(8):sfae211. View Abstract
  113. Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Neuroimage. 2024 Aug 15; 297:120721. View Abstract
  114. Return of genetic research results in 21,532 individuals with autism. Genet Med. 2024 Oct; 26(10):101202. View Abstract
  115. SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study. Clin Genet. 2024 Oct; 106(4):448-461. View Abstract
  116. Shortened Cerebral Circulation Time Predicts Resistance to Obliteration in High-Flow Brain Arteriovenous Malformations After Stereotactic Radiosurgery. Neurosurgery. 2024 Dec 01; 95(6):1429-1440. View Abstract
  117. Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. J Clin Invest. 2024 Jun 17; 134(12). View Abstract
  118. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 06 06; 390(21):1985-1997. View Abstract
  119. Promoting equity in clinical research: The role of social determinants of health. J Biomed Inform. 2024 08; 156:104663. View Abstract
  120. 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
  121. Pathogenic PHIP Variants are Variably Associated With CAKUT. Kidney Int Rep. 2024 Aug; 9(8):2484-2497. View Abstract
  122. 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
  123. Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs. Pediatr Cardiol. 2025 Apr; 46(4):798-803. View Abstract
  124. Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder. medRxiv. 2024 May 05. View Abstract
  125. 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
  126. 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
  127. Motor difficulties in 16p11.2 copy number variation. Autism Res. 2024 05; 17(5):906-916. View Abstract
  128. GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts. ArXiv. 2024 Apr 22. View Abstract
  129. 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
  130. An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders. Int J Neonatal Screen. 2024 Apr 16; 10(2). View Abstract
  131. 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
  132. Risk factors affecting polygenic score performance across diverse cohorts. medRxiv. 2024 Apr 10. View Abstract
  133. Improvement of variant reclassification in genetic neurodevelopmental conditions. Genet Med Open. 2024; 2:101845. View Abstract
  134. 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
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  852. 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
  853. Attitudes and practices among internists concerning genetic testing. J Genet Couns. 2013 Feb; 22(1):90-100. View Abstract
  854. 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
  855. 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
  856. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr; 18(4):296-303. View Abstract
  857. 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
  858. 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
  859. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol. 2011 Dec; 70(6):996-1005. View Abstract
  860. 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
  861. 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
  862. Novel SLC39A4 mutation in acrodermatitis enteropathica. Pediatr Dermatol. 2011 Nov-Dec; 28(6):697-700. View Abstract
  863. Similarity-based disease risk assessment for personal genomes: proof of concept. AMIA Annu Symp Proc. 2011; 2011:1524-31. View Abstract
  864. An overview of mongenic and syndromic obesities in humans. Pediatr Blood Cancer. 2012 Jan; 58(1):122-8. View Abstract
  865. Clinical and molecular genetic features of hereditary pulmonary arterial hypertension. Compr Physiol. 2011 Oct; 1(4):1721-8. View Abstract
  866. 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
  867. Intragenic deletion as a novel type of mutation in Wolman disease. Mol Genet Metab. 2011 Dec; 104(4):703-5. View Abstract
  868. 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
  869. 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
  870. 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
  871. 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
  872. Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease. JIMD Rep. 2011; 1:79-82. View Abstract
  873. Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle. Circulation. 2011 May 31; 123(21):2353-62. View Abstract
  874. 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
  875. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol. 2011 May; 44(5):317-27. View Abstract
  876. 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
  877. 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
  878. Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death. Cardiol Young. 2011 Jun; 21(3):345-8. View Abstract
  879. 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
  880. Global DNA methylation levels in girls with and without a family history of breast cancer. Epigenetics. 2011 Jan; 6(1):29-33. View Abstract
  881. 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
  882. Glut1 deficiency: inheritance pattern determined by haploinsufficiency. Ann Neurol. 2010 Dec; 68(6):955-8. View Abstract
  883. 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
  884. 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
  885. 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
  886. 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
  887. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010 Aug; 6(8):445-53. View Abstract
  888. Enalapril in infants with single ventricle: results of a multicenter randomized trial. Circulation. 2010 Jul 27; 122(4):333-40. View Abstract
  889. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010 Jul; 12(7):446-63. View Abstract
  890. 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
  891. 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
  892. 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
  893. 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
  894. 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
  895. 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
  896. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2009 Jun 30; 54(1 Suppl):S32-S42. View Abstract
  897. Gamma knife radiosurgery for the treatment of recurrent seizures after incomplete anterior temporal lobectomy. Seizure. 2009 Sep; 18(7):511-4. View Abstract
  898. 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
  899. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 2009 Jun; 29(6):560-9. View Abstract
  900. 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
  901. 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
  902. 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
  903. Absence epilepsy in apathetic, a spontaneous mutant mouse lacking the h channel subunit, HCN2. Neurobiol Dis. 2009 Mar; 33(3):499-508. View Abstract
  904. 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
  905. Considerations regarding the genetics of obesity. Obesity (Silver Spring). 2008 Dec; 16 Suppl 3:S33-9. View Abstract
  906. Functional consequences of the human leptin receptor (LEPR) Q223R transversion. Obesity (Silver Spring). 2009 Jan; 17(1):126-35. View Abstract
  907. 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
  908. 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
  909. 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
  910. 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
  911. 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
  912. 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
  913. 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
  914. Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda. Reprod Biomed Online. 2008; 17 Suppl 1:33-42. View Abstract
  915. 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
  916. 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
  917. 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
  918. RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy. Hum Genet. 2007 Dec; 122(5):515-23. View Abstract
  919. Implementation of genetics to personalize medicine. Gend Med. 2007 Sep; 4(3):248-65. View Abstract
  920. 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
  921. 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
  922. 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
  923. 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
  924. Decision-making about reproductive choices among individuals at-risk for Huntington's disease. J Genet Couns. 2007 Jun; 16(3):347-62. View Abstract
  925. 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
  926. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. View Abstract
  927. 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
  928. Gene expression patterns in blood leukocytes discriminate patients with acute infections. Blood. 2007 Mar 01; 109(5):2066-77. View Abstract
  929. Glucokinase mutations in young children with hyperglycemia. Diabetes Metab Res Rev. 2006 Sep-Oct; 22(5):348-55. View Abstract
  930. The links between obesity, leptin, and prostate cancer. Cancer J. 2006 May-Jun; 12(3):178-81. View Abstract
  931. 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
  932. 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
  933. Alpha-thalassemia major presenting in a term neonate without hydrops. Pediatr Dev Pathol. 2005 Nov-Dec; 8(6):706-9. View Abstract
  934. Primary pediatric brain tumors: statistics of Taipei VGH, Taiwan (1975-2004). Cancer. 2005 Nov 15; 104(10):2156-67. View Abstract
  935. Molecular physiology of syndromic obesities in humans. Trends Endocrinol Metab. 2005 Aug; 16(6):267-72. View Abstract
  936. 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
  937. 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
  938. Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genet Med. 2005 Feb; 7(2):111-8. View Abstract
  939. Gamma knife surgery for vestibular schwannoma: 10-year experience of 195 cases. J Neurosurg. 2005 Jan; 102 Suppl:87-96. View Abstract
  940. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat. 2004 Oct; 24(4):312-20. View Abstract
  941. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr; 14(4):253-60. View Abstract
  942. Foamy podocytes. Am J Kidney Dis. 2003 Apr; 41(4):891-6. View Abstract
  943. The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein. J Clin Invest. 2002 Nov; 110(10):1449-59. View Abstract
  944. 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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