Original Investigation
MTOR Mutations, Brain Disorders, and Pigmentary Mosaicism
Ghayda M. Mirzaa, MD; Catarina D. Campbell, PhD; Nadia Solovieff, PhD; Carleton P. Goold, PhD; Laura A. Jansen, MD, PhD; Suchithra Menon, PhD; Andrew E. Timms, PhD; Valerio Conti, BSc, PhD; Jonathan D. Biag, MS; Carissa Olds, MSc; Evan August Boyle, BS; Sarah Collins, MS; Gisele Ishak, MD; Sandra L. Poliachik, PhD; Katta M. Girisha, MD; Kit-San Yeung, BSc, MPhil; Brian Hon Yin Chung, MD; Elisa Rahikkala, MD, PhD; Sonya A. Gunter, MS; Sharon S. McDaniel, MD; Colleen Forsyth Macmurdo, DO; Jonathan A. Bernstein, MD, PhD; Beth Martin, BS; Rebecca J. Leary, PhD; Scott Mahan, MT(ASCP); Shanming Liu, MSc; Molly Weaver, BS; Michael O. Dorschner, PhD; Shalini Jhangiani, MS; Donna M. Muzny, MSc; Eric Boerwinkle, PhD; Richard A. Gibbs, PhD; James R. Lupski, MD, PhD, DSc(Hon); Jay Shendure, MD, PhD; Russell P. Saneto, DO, PhD; Edward J. Novotny, MD; Christopher J. Wilson, PhD; William R. Sellers, MD; Michael P. Morrissey, PhD; Robert F. Hevner, MD, PhD; Jeffrey G. Ojemann, MD; Renzo Guerrini, MD; Leon O. Murphy, PhD; Wendy Winckler, PhD; William B. Dobyns, MD