Stankiewicz, P., Khan, T.N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., Bernstein, J.A., Brown, C.W., Rosenfeld, J.A., Rednam, S., Scollon, S., Bergstrom, K.L., Parsons, D.W., Plon, S.E., Vieira, M.W., Quaio, C.R.D.C., Baratela, W.A.R., Acosta Guio, J.C., Armstrong, R., Mehta, S.G., Rump, P., Pfundt, R., Lewandowski, R., Fernandes, E.M., Shinde, D.N., Tang, S., Hoyer, J., Zweier, C., Reis, A., Bacino, C.A., Xiao, R., Breman, A.M., Smith, J.L., Deciphering Developmental Disorders Study, Katsanis, N., Bostwick, B., Popp, B., Davis, E.E., Yang, Y. (2017) Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American journal of human genetics. 101(4):503-515

Stankiewicz, P., Khan, T.N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., Bernstein, J.A., Brown, C.W., Rosenfeld, J.A., Rednam, S., Scollon, S., Bergstrom, K.L., Parsons, D.W., Plon, S.E., Vieira, M.W., Quaio, C.R.D.C., Baratela, W.A.R., Acosta Guio, J.C., Armstrong, R., Mehta, S.G., Rump, P., Pfundt, R., Lewandowski, R., Fernandes, E.M., Shinde, D.N., Tang, S., Hoyer, J., Zweier, C., Reis, A., Bacino, C.A., Xiao, R., Breman, A.M., Smith, J.L., Deciphering Developmental Disorders Study, Katsanis, N., Bostwick, B., Popp, B., Davis, E.E., Yang, Y. (2017) Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American journal of human genetics. 101(4):503-515