Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

by Hunter, Jesse M, Ahearn, Mary Ellen, Balak, Christopher D, Liang, Winnie S, Kurdoglu, Ahmet, Corneveaux, Jason J, Russell, Megan, Huentelman, Matthew J, Craig, David W, Carpten, John, Coons, Stephen W, DeMello, Daphne E, Hall, Judith G, Bernes, Saunder M, Baumbach-Reardon, Lisa
Published 2015

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

by Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle
Published 2016

Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

by Ramos, Pilar, Karnezis, Anthony N, Hendricks, William P D, Wang, Yemin, Tembe, Waibhav, Zismann, Victoria L, Legendre, Christophe, Liang, Winnie S, Russell, Megan L, Craig, David W, Farley, John H, Monk, Bradley J, Anthony, Stephen P, Sekulic, Aleksandar, Cunliffe, Heather E, Huntsman, David G, Trent, Jeffrey M
Published 2014