Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

Por Gu, Shen, Posey, Jennifer E., Yuan, Bo, Carvalho, Claudia M.B., Luk, H.M., Erikson, Kelly, Lo, Ivan F.M., Leung, Gordon K.C., Pickering, Curtis R., Chung, Brian H.Y., Lupski, James R.
Publicado no Hum Mutat (2015)

NSD1 mutations generate a genome-wide DNA methylation signature

Por Choufani, S., Cytrynbaum, C., Chung, B. H. Y., Turinsky, A. L., Grafodatskaya, D., Chen, Y. A., Cohen, A. S. A., Dupuis, L., Butcher, D. T., Siu, M. T., Luk, H. M., Lo, I. F. M., Lam, S. T. S., Caluseriu, O., Stavropoulos, D. J., Reardon, W., Mendoza-Londono, R., Brudno, M., Gibson, W. T., Chitayat, D., Weksberg, R.
Publicado no Nat Commun (2015)

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

Por Leung, Gordon K. C., Luk, H. M., Tang, Vincent H. M., Gao, W. W., Mak, Christopher C. Y., Yu, Mullin H. C., Wong, W. L., Chu, Yoyo W. Y., Yang, W. L., Wong, Wilfred H. S., Ma, Alvin C. H., Leung, Anskar Y. H., Jin, D. Y., Chan, Kelvin Y. K., Allanson, Judith, Lo, Ivan F. M., Chung, Brian H. Y.
Publicado no Sci Rep (2018)