Select Papers

    • Ebrahimi-Fakhari, D., Cheng, C., Dies, K., …, Chung, W.K., Bennett, J.T. Clinical and Genetic Characterization of AP4B1-Associated SPG47. Am J Med Genet A. 10.1002/ajmg.a.38561, 2017[Epub ahead of Print], 2017. PMID: 29193663.
    • *Wynn, J., Martinez, J., Bulafka, J., …, Chung, W.K. Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.  J Genet Couns. Nov 22,[Epub ahead of Print], 2017. PMID: 29168042.
    • Jin, S.C., Homsy, J., Zaidi, S., …, 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.
    • Hamdan, F.F., Myers, C., Cossette, P., …, Chung, W.K. …, Michaud, J.L. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 101(5):664-685, 2017. PMID: 29100083.
    • *Bohnen, M.S., Roman-Campos, D., Terrenoire, C., …, Chung, W.K. Kass, R.S. The Impact of Heterozygous KCNK3 Mutations Associated with Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery.  J Am Heart Association. 6(9), 2017. PMID: 28889099.
    • Wolf, S.M., Amendola, L.M., Berg, J.S., …, Chung, W.K. …, Burke, W. Navigating the Research-Clinical Interface in Genomic Medicine: Analysis from the CSER Consortium. Genetics in Medicine. 10.1038/gim.2017.137, 2017. PMID: 28858330.
    • Amyere, M., Revencu, N., Helaers, R., …, Chung, W.K. …, Vikkula, M. Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-A VM2) Deregulating RAS-MAPK Signaling. Circulation. July 7 [Epub ahead of Print], 2017. PMID: 28687708.
    • *Tanaka, A.J., Cho, M.T., Willaert, R., …, Chung, W.K. De Novo Variants in EBF3 are Associated with Hypotonia, Developmental Delay, Intellectual Disability and Autism. Cold Spring Harb Mol Case Stud. 3(6), 2017. PMID: 29162653.
    • Hemnes, A.R., Beck, G.J., Newman, J.H., …, Chung, W.K. Leopold, J.A. PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics. Cir Res. 121(10):1136-1139, 2017. PMID: 29074534.
    • Kruszka, P., Tanapaiboon, P., Neas, K., …, Chung, W.K. Muenke, M. Loss of Function in ROBO1 is Associated with Tetralogy of Fallot and Septal Defects. J Med Genet. 10.1136/ medgenet-2017-104611 [Epub ahead of print], 2017. PMID: 28592524.
    • Phelan, C.M., Kuchenbaecker, K.B., Tyrer, J.P., …, Chung, W.K. Pharoah, P.D.P. Identification of 12 New Susceptibility Loci for Different Histotypes of Epithelial Ovarian Cancer. Nat Genet. 49(5):680-691, 2017. PMID: 28346442.
    • 38. Koenig, M.K., Hodgeman, R., Riviello, J.J., Chung, W.K. Pearl, P.L. Phenotype of GABA-Transaminase Deficiency. Neurology. 88(20):1919-1924, 2017. PMID: 28411234.