Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
SN Jhangiani, BN Flores, B Ozes, PJ Reitnauer, P Mancias, LB Griffin, L Francescatto, JR Lupski, MT Goksungur, TO Crawford, M Kousi, DM Muzny, W Wiszniewski, E Karaca, MN Bainbridge, A Slavotinek, T Harel, RA Gibbs, E Boerwinkle, T Gambin, M Shy, J Willer, E Battaloglu, Y Parman, M Withers, M Koenig, N Katsanis, D Pehlivan, C Gonzaga-Jauregui, Y Okamoto, KS Lawson, I Pediaditrakis, O Us, Anthony Antonellis
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
X Wang, V Carelli, CA Prows, A Rebelo, T Huang, C La Morgia, R Liguori, C Zanna, OA Abdul-Rahman, EK Schorry, KL Sund, LA Krueger, CE Prada, SM Downes, AH Németh, IJ Campeanu, ZM Ahmed, R Lodi, LB Griffin, JE Dallman, F Speziani, A Barrientos, MA Gonzalez, AJ Abrams, L Caporali, L Abreu, J Prince, S Groenewald, AV Strickland, Anthony Antonellis, RB Hufnagel, Y Peng, F Fontanesi, N Patel, Y Yang, S Zuchner, R Schüle, A Maresca, F Tao, HH Zimmerman
Load more…