Wendy Chung, MD, PhD

Chair of Pediatrics

Research Focus
We study the genetic basis of human disease and how to implement information about genetics in medicine.
Brief Research Description
Wendy Chung, M.D., Ph.D. has spent over 20 years studying monogenic and complex traits including conditions such as autism, neurodevelopmental disorders, obesity, diabetes, breast cancer, congenital heart disease, congenital diaphragmatic hernia, esophageal atresia/trachea esophageal fistula, pulmonary hypertension, and cardiomyopathies. I have identified the genetic basis for over 50 novel human Mendelian conditions and described the clinical phenotype of these diseases. I have made a significant contribution to improving the understanding of the genomic basis for human conditions and implementing that knowledge into clinical care. I study the natural history of these conditions we discover and use mouse genetic models to study pathogenesis. I study many rare neurogenetic conditions through Simons Searchlight, SPARK, and am the PI of the Autism Center of Excellence at Columbia, and am leading studies of KIF1A associated neurological disorder including N of 1 treatment.
Key Publications (PMCIDs)

Clinical Phenotypic Spectrum of CTNNB1 Neurodevelopmental Disorder
Sudnawa , K.K., Garber, A., Cohen, R., Calamia, S., Kanner, C.H., Montes, J., Bain, J.M., Fee, R.J., Chung, W.K.
Clinical Genetics. Accepted, Jan 8, 2023.

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
Feliciano, P. Daniels, A.M., Green Snyder, L., Beaumont, A., Camba, A., Esler, A., Gulsrud, A.G., Mason, A., Gutierrez, A., Nicholson, A., Paolicelli, A.M., McKenzie, A.P., Rachubinski, A.L., Stephens, A.N., Simon, A.R., Stedman, A., Shocklee, A.D., Swanson, A., Finucane, B., Hilscher, B.A., Hauf, B., O’Roak, B.J., McKenna, B., Robertson, B.E., Rodriguez, B., Vernoia, B.M., Van Metre, B., Bradley, C., Cohen, C., Erickson, C.A., Harkins, C., Hayes, C., Lord, C., Martin, C.L., Ortiz, C., Ochoa-Lubinoff, C., Peura, C., Rice, C.E., Rosenberg, C.R., Smith, C.J., Thomas, C., Taylor, C.M., White, L.C., Walston, C.H., Amaral, D.G., Coury, D.L., Sarver, D.E., Istephanouse D., Li, D., Nugyen, D.C., Fox, E.A., Butter, E.M., Berry-Kravis, E., Courchesne, E., Fombonne, E.J., Hofammann, E., Lamarche, E., Wodka, E.L., Matthews, E.T., O’Connor, E., Palen, E., Miller, F., Dichter, G.S., Marzano, G., Stein, G., Hutter, H., Kaplan, H.E., Li, H., Lechniak, H., Schneider, H.L., Zaydens, H., Arriaga, I., Gerdts, J.A., Cubells, J.F., Cordova, J.M., Gunderson, J., Lillard, J., Manoharan, J., McCracken, J.T., Michaelson, J.J., Neely, J., Orobio, J., Pandey, J., Piven, J., Scherr, J., Sutcliffe, J.S., Tjernagel, J., Wallace, J., Callahan, K., Dent, K., Schweers, K.A., Hamer, K.E., Law, J.K., Lowe, K., O’Brien, K., Smith, K., Pawlowski, K.G., Pierce, K.L., Roeder, K., Abbeduto, L.J., Berry, L.N., Cartner, L.A., Coppola, L.A., Carpenter, L., Cordeiro, L., DeMarco, L., Grosvenor, L.P., Higgins, L., Huang-Storms, L.Y., Hosmer-Quint, L., Herbert, L.M., Kasparson, L., Prock, L.M., Pachecho, L.D., Raymond, L., Simon, L., Soorya, L.V., Wasserburg, L., Lazar, M., Alessandri, M., Brown, M., Currin, M.H., Gwynette, M.F., Heyman, M., Hale, M.N., Jones, M., Jordy, M., Morrier, M.J., Sahin, M., Siegel, M.S., Verdi, M., Parlade, M.V., Yinger, M., Bardett, N., Hanna, N., Harris, N., Pottschmidth, N., Russo-Ponsaran, N., Takahashi, N., Ousley, O.Y., Juarez, A.P., Manning, P., Annett, R.D., Bernier, R.A., Clark, R.D., Landa, R.J., Goin-Kochel, R.P., Remington, R., Schultz, R.T., Brewster, S.J., Booker, S., Carpenter, S., Eldred, S., Francis, S., Friedman, S.L., Horner, S., Hepburn, S., Jacob, S., Kanne, S., Lee, S.J., Mastel, S.A., Plate, S., Qiu, S., Sandhu, S., Thompson, S., White, S., Myers, V.J., Singh, V., Yang, W.S., Warren, Z., Amatya, A., Ace, A.J., Chatha, A.S., Lash, A.E., Negron, B., Rigby, C., Ridenour, C. ,Stock, C.M., Schmidt, D., Fisk, I., Acampado, J., Nestle, J.L., Nestle, J.A., Layman, K., Butler, M.E., Kent, M., Mallardi, M.D., Carriero, N., Lawson, N., Volfovsky, N., Edgar, R., Marini, R., Rana, R., Ganesan, S., Shah, S., Ramsey, T., Chin, W., Jensen, W., Krentz, A.D., Gruber, A.J., Sabo, A., Salomatov, A., Eng, C., Muzny, D., Astrovskaya, I., Gibbs, R.A., Han, X., Shen, Y., Reichardt, L.F., Chung, W.K.
Neuron. 2018 Feb 7;97(3):488-493. PMID: 29420931. PMCID: PMC7444276.

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou, X., Feliciano, P., Shu, C., Wang, T., Astrovskaya, I., Hall, J.B., Obiajulu, J.U.., Wright, J.R., 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., Michaelson, J.J., Volfovsky, N., Eischler, E.E., Shen, Y., Chung, W.K.
Nat Genet. 2022 Sep;54(9):1305-1319. PMID: 35982159. PMCID: PMC9470534

Simons Variation in Individuals Project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.
Spiro, J.E., Beaudet, A.L., Brewton, C.M., Chu, Z., Dempsey, A.G., Evans, Y.L., Garza, S., Hunter, J.V., Kanne, S.M., Laakman, A.L., Lasala, M.W., Llorens, A.V., Marzano, G., Moss, T.J., Nowell, K.P., Proud, M.B., Ramocki, M.B., Chen, Q., Vaughan, R., Berman, J., Blaskey, L., Hines, K.P., Kessler, S., Khan, S.Y., Qasmieh, S., Bibb, A.L., Paal, A.M., Page, P.Z., Smith-Packard, B., Buckner, R., Burko, J., Cavanagh, A.L., Cerban, B., Gallagher, A.S., Grant, E., Green Snyder, L.A., McNally-Keehn, R., Miller, D., Miller, F., Olson, J., Spence, S., Triantafyllou, C., Visyak, N., Atwell, C., Benedetti, M., Fischbach, G., Greenup, M., Packer, A., Tjernagel, J., Aaronson, B., Bukshpun, P., Cheong, M., Dale, C., Gobuty, S., Hinkley, L., Jeremy, R., Lee, H., Luks, T., Marco, E., Martin, A., Mukheriee, P, Nagarajan, S., Owens, J., Paul, B., Pojman, N., Sinha, T., Wakahiro, M., Alupay, H., Aaronson, B., Ackerman, S., Ankenmann, K., Aylward, E., Elgin, J., Gerdts, J., Johnson, K., Reilly, B., Shaw, D., Steinman, K., Stevens, A., Ward, T., Wenegrat, J, Roberts, T., Ledbetter, D., Lese Martin, C., Goin-Kochel, R.P., Bernier, R., Faucett, W.A., Sherr, E., Hanson, E., Chung, W.K.
Neuron. 2012 Mar 22;73(6):1063-1067. doi: 10.1016/j.neuron.2012.02.014. PMID: 22445335

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder
Boyle, L., Rao, L., Kaur, S., Fan, X., Mebane, C., Hamm, L., Thornton, A., Ahrendsen, J.T., Anderson, M.P., Christodolou, J., Gennerich, A., Shen, Y., Chung, W.K.
. HGG Adv. 2021 Apr 8;2(2):100026. PMID: 33880452. PMCID: PMC8054982