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