Select Papers

Congenital Heart Disease

  • Richter, F., Morton, S.U., …., Chung, W.K. Genomic Analyses Implicate Noncoding De Novo Variants in Congenital Heart Disease. Nature Genetics. 2020 Jun 29. doi: 10.1038/s41588-020-0652-z.PMID: 32601476.
  • Hsieh, A., Morton, S.U…, Chung, W.K. EM-Mosaic Detects Mosaic Point Mutations that Contribute to Congenital Heart Disease. Genome Medicine. 12(1):42. 2020. doi:10.1186/s13073-020-00738-1. PMID: 32349777.< PMCID: PMC7189690.
  • Jin, S.C., Homsy, J., …, Chung, W.K., …, Brueckner, M. Contribution of Rare Inherited and De Novo Variants in 2,871 Congenital Heart Disease Probands. Nat Genet.  49(11):1593-1601, 2017. PMID: 28991257.
  • Homsy, J., Zaidi, S., Shen, Y., …, Chung, W.K. De novo Mutations in Congenital Heart Disease with Neurodevelopmental and other Congenital Anomalies. Science. 350(6265):1262-1266, 2015. PMID26785492.
  • Glessner, J.T., Bick, A.G., …, Chung, W.K. Increased Frequency of De novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data. Circulation. 115(10):884-96. 2014. PMID: 25205790.

Congenital Diaphragmatic Hernia

  • Qiao, L., Xu, L., Yu, L., ….Chung, W.K. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. Am J Hum Genet. 2021 Sep 14:S0002-9297(21)00319-0. doi: 10.1016/j.ajhg.2021.08.011. PMID: 34547244.
  • Qiao, L., Wynn, J., Yu, L., Hernan, R……, 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.
  • Qi, H., Yu, L., Zhou, X.., Chung, W.K. De Novo Variants in Congenital Diaphragmatic Hernia Identify MYRF as a New Syndrome and Reveal Genetic Overlaps with Other Developmental Disorders. PLoS Genet. 14(12):e1007822, 2018. PMID: 30532227.PMCID: PMC630172.
  • Yu, L., Sawle, A.D., Wynn, J., …, Chung, W.K. Increased Burden of De novo Predicted Deleterious Variants in Complex Congential Diaphragmatic Hernia. Hum Mol Genet. 24(12):4764-4773, 2015. PMID: 26034137.

Pulmonary Hypertension

  • Zhu, N., Swietlik, E.M., Welch, C.L…., 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.
  • Swietlik, E., Greene, Greene, D…., Chung, W.K. Bayesian Inference Assoicates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Circulation: Genomic and Precision Medicine. 2020 Dec 15. doi: 10.1161/CIRCGEN.120.003155.PMID: 33320693.

Neurogenetic Conditions

  • Boyle, L., Rao, L…., Chung, W.K. Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder. HGG Adv. 2021 Apr 8;2(2):100026. doi: 10.1016/j.xhgg.2021.100026. Epub 2021 Jan 30.PMID: 33880452.
  • Al-Deri, N., Okur, V., Ahimaz, P…., Chung, W.K. A Novel Homozygous Variant in TRAPPC2L Results in a Neurodevelopmental Disorder and Disrupts TRAPP Complex Function. Journal of Medical Genetics. 2020 Aug 25. doi: 10.1136/jmedgenet-202-107016. PMID: 32843486.
  • Ganapathi, M., Padgett, L.R…,Chung, W.K. Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, are Associated with a Neurodevelopmental Disorder. Am J Hum Genet. 104(2):287-298, 2019. PMID: 30661771. PMCID: PMC6369575.
  • Sanders, S.J., Campbell, A.J., Cottrell, J.R., …, Chung, W.K., …, Bender, K.J. Progress in Understanding and Treating SCN2A-Mediated Disorders. Trends Neurosci. [Epub ahead of Print], 2018. PMID: 29691040.
  • Martin-Breveet, S., Rodriguez-Herreros, B., Nielsen, J.A., …, Chung, W.K., …, Jacquemont, S. Quantifying the Effects of the 16p11.2 Copy Number Variants on Brain Structure: A Multi-site Genetic First Study. Biol Psychiatry. [Epub ahead of Print], 2018. PMID: 29778275.
  • Palmer, E.E., Stuhlmann, T., Weinert, S., …, Chung, W.K., …, Kalscheuer, V.M. De Novo and Inherited Mutations in the X-Linked Gene CLCN4 are Associated with Syndromic Intellectual Disability and Behavior and Seizure Disorders in Males and Females. Mol Psychiatry. 23(2):222-230, 2018. PMID: 27550844.
  • Shang, L., Henderson, L.B., Cho, M.T., …, Chung, W.K. De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia and Autism. Neurogenetics.  17(1):43-49, 2016. PMID: 26576547. 

Other papers

  • Fan, X., Wynn, J., Shang, N…,Chung, W.K. Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network. JNCI Cancer Spectr. 2021 May 8;5(4):pkab044. doi: 10.1093/jncics/pkab044. eCollection 2021 Aug. PMID: 34377931.
  • Wang, J., Ahimaz, P.R…., Chung, W.K. Novel Candidate Genes in Esophageal Atresia/Tracheoesophageal Fistula Identified by Exome Sequencing.  Eur J Hum Genet. 2021 Jan;29(1):122-130. doi: 10.1038/s41431-020-0680-2. Epub 2020 Jul 8. PMID: 32641753.

All Papers on PubMed by Dr. Wendy K. Chung.