Megan T Cho

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Katherine Mathews, Karin Panzer, Matthew Deardorff, 2015, American journal of human genetics.

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.

Richard A Gibbs, Ali Mentes, Donna M Muzny, 2017, American journal of human genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.