Welcome to the Chung Lab at Boston Children’s Hospital/Harvard Medical School. Dr. Chung’s research relates to the genetic basis of a variety of human diseases including obesity, type 2 diabetes, congenital heart disease, cardiomyopathies, arrhythmias, Long QT syndrome, pulmonary hypertension, endocrinopathies, congenital diaphragmatic hernias, seizures, intellectual disabilities, autism, inherited metabolic conditions, rare disorders, and breast cancer susceptibility. She also works on the implementation of genomic and precision medicine and newborn screening.
Recent papers and news articles
Recent papers:
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder. Ziegler, A., Carroll, J., Bain, J.M., Sands, T.T., Fee, R.J., Dher, D., Kanner, C.H., Montes, J., Glass, S., Douville, J., Mignon, L., Gleeson, J.G., Crooke, S.T., Chung, W.K. Nature Med. 2024 Aug 9. doi:10.1038/s41591-024-03197-y. PMID:TBA
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Sudnawa, K.K., Li, W., Calamia, S., Kanner, C.H., Bain, J.M., Abdelhakim, A.H., Geltzer, A., Mebane, C.M., Provenzano, F.A., Sands, T.T., Fee, R.J., Montes, J., Shen, Y., Chung, W.K. Genet Med. 2024 May 20:101169. doi: 10.1016/j.gim.2024.101169. Epub ahead of print. PMID:38785164
The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities. Chung, W.K., Dasgupta, S., Regier, D.S., Solomon, B.D. (2024 ) Genet Med. 2024 Jun;26(6):101121. doi: 10.1016/j.gim.2024.101121. Epub 2024 Mar 9. PMID:38469792
Health Supervision for Children and Adolescents with 16p11.2 Deletion Syndrome. Chung, W.K., Herrera F.F. (2024) Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006316. doi: 10.1101/mcs.a006316. PMID:38050025
Clinical features of PPP2 syndrome type R5D (Jordan’s Syndrome) to support standardization of care. Levine, A.D., Chung, W.K. Cold Spring Harb Mol Case Stud. . 2023 Jul 11;9(3):.a006285. doi: 10.1101/mcs.a006285. PMID:37339871
International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension Welch, C., Aldred, M., Balachandar, S., Dooijes, D., Eichstaedt, C., Graf, S., Houwelling, A., Machado, R., Pandya, D., Prapa, M., Shaukat, M., Southgate, L., Castano, J.T. Chung, W.K. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. PMID:37422716
Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients? Appelbaum, P.S., Burke, W., Parens, E., Roberts, J., Berger, S., Chung, W.K. Ann Intern Med. 2023 Apr;176(4):563-567. doi: 10.7326/M22-3682. PMID:36972543
Chung Lab at Boston Children's Hospital 