Wendy Chung, MD, PhD
Chair of Pediatrics
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