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	Title	Author(s)	Issue Date	Views
	De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features Proceeding/Conference:European Human Genetics Conference, 2019	Gordon, CT Leung, KC Mak, CCY Doherty, D Lin, A Vegas, N Cho, M Dimartino, C Weisfeld-Adams, J Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, Y Troyer, C Kant, S Leung, G Barone, A Yang, S Bend, E Roadhouse, C Zahir, F Stolerman, E Bienvenu, T Orenstein, N Dobyns, W Shieh, J Waggoner, D Gripp, K Parker, M Stoler, J Lyonnet, S Cormiere-Daire, V Viskochil, D Hoffman, T Amiel, J Chung, BHY	2019	142
	Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development Journal:Neuron	Lennox, AL Hoye, ML Jiang, R Johnson-Kerner, BL Suit, LA Venkataramanan, S Sheehan, CJ Alsina, FC Fregeau, B Aldinger, KA Moey, C Lobach, I Afenjar, A Babovic-Vuksanovic, D Bezieau, S Blackburn, PR Bunt, J Burglen, L Campeau, PM Charles, P Chung, BHY Cogne, B Curry, C D'Agostino, MD Di Donato, N Faivre, L Heron, D Innes, AM Isidor, B Keren, B Kimball, A Klee, EW Kuentz, P Kury, S Martin-Coignard, D Mirzaa, G Mignot, C Myake, N Matsumoto, N Fujita, A Nava, C Nizon, M Rodriguez, D Blok, LS Thauvin-Robinet, C Thevenon, J Vincent, M Ziegler, A Dobyns, W Richards, LJ Barkovich, AJ Floor, SN Silver, DL Sherr, EH	2020	43
	SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Journal:Human Mutation	Ng, BG Sosicka, P Agada, S Almannai, M Bacino, CA Barone, R Botto, L Burton, JE Carlston, C Chung, BHY Cohen, J Coman, D Dobyns, W Elias, AF Epstein, L Garozzo, D Grunewald, S Hammer, TB Haven, J Heron, D Hoganson, GE Lakhani, S Lee, J Lewis, K Longo, N Lourenco, CM Mak, CCY Mendelsohn, B Mignnot, C Mirzaa, G Mitchell, W Olezak, M Parikian, A Patterson, MC Pierson, T Quinonez, SC Regan, B Rosa, ME Scaglia, F Scheffer, I Segal, D Singhal, NS Striano, P Sturiale, L Symonds, J Willis, M Wolfe, LA Yano, S Powis, Z Suchy, S Mokry, JA Edmondson, AC Freeze, HH	2019	106

Showing results 1 to 3 of 3