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Showing results 4 to 8 of 8 < previous

	Title	Author(s)	Issue Date	Views
	MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Journal:Brain	Mak, CCY Doherty, D Lin, AE Vegas, N Cho, MT Viot, G Dimartino, C Weisfeld-Adams, JD Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, YA Ehmke, N Horn, D Troyer, C Kant, SG Lee, Y Ishak, GE Leung, G Barone Pritchard, A Yang, S Bend, EG Filippini, F Roadhouse, C Lebrun, N Mehaffey, MG Martin, P-M Apple, B Millan, F Puk, O Hoffer, MJV Henderson, LB McGowan, R Wentzensen, IM Pei, S Zahir, FR YU, M Gibson, WT Senab, A Steeves, M Murrell, JR Luettgen, S Francisco, E Strom, TM Amlie-Wolf, L Kaindl, AM Wilson, WG Halbach, S Basel-Salmon, L Lev-El, N Denecke, J Vissers, LELM Radtke, K Chelly, J Zackai, E Friedman, JM Bamshad, MJ Nickerson, DA Reid, RR Devriendt, K Chae, JH Stolerman, E McDougall, C Powis, Z Bienvenu, T Tan, TY Orenstein, N Dobyns, WB Shieh, JT Choi, M Waggoner, D Gripp, KW Parker, MJ Stoler, J Lyonnet, S Cormier-Daire, V Viskochil, D Hoffman, TL Amiel, J Chung, BHY Gordon, CT University of Washington Center for Mendelian Genomics	2020	49
	Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Journal:American Journal of Human Genetics	Bennett, JT Tan, TY Alcantara, D Tetrault, M Timms, AE Jensen, D Collins, S Nowaczyk, MJM Lindhurst, MJ Christensen, KM Braddock, SR Brandling-Bennett, H Hennekam, RCM Chung, BHY Lehman, A Su, J Ng, SY Amor, DJ Majewski, J Biesecker, LG Boycott, KM Dobyns, WB O'Driscoll, M Moog, U McDonell, LM	2016	60
	Recurrent de novo missense mutations in PP1CB cause a novel rasopathy closely resembling Noonan syndrome with loose anagen hair (Reviewer choice) Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Gripp, KW Aldinger, KA Bennett, J Baker, L Tusi, J Powell-Hamilton, N Stabley, D Sol-Church, K Timms, A Dobyns, WB de Man, A Larson, A Spruijt, L Koolen, D Stevens, SJC Stegmann, APA Nillesen, MW Norrhock, HV Belien, M Nellist, M Verheijen, F Wilems, PJ Chung, BHY Dubbs, H Bhoj, E Santani, A McDougall, C Zackai, EH Rinne, TK Wessels, MW	2016	49
	Redefining the Etiologic Landscape of Cerebellar Malformations Journal:American Journal of Human Genetics	Aldinger, KA Timms, AE Thomson, Z Mirzaa, GM Bennett, JT Rosenberg, AB Roco, CM Hirano, M Abidi, F Haldipur, P Cheng, CV Collins, S Park, K Zeiger, J Overmann, LM Alkuraya, FS Biesecker, LG Braddock, SR Cathey, S Cho, MT Chung, BHY Everman, DB Zarate, YA Jones, JR Schwartz, CE Goldstein, A Hopkin, RJ Krantz, ID Ladda, RL Leppig, KA McGillivray, BC Sell, S Wusik, K Gleeson, JG Nickerson, DA Bamshad, MJ Gerrelli, D Lisgo, SN Seelig, G Ishak, GE Barkovich, AJ Curry, CJ Glass, IA Millen, KJ Doherty, D Dobyns, WB	2019	36
	Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations Journal:Journal of Medical Genetics	Aldinger, KA Mendelsohn, NJ Chung, BHY Zhang, W Cohn, DH Fernandez, B Alkuraya, FS Dobyns, WB Curry, CJ	2016	52

Showing results 4 to 8 of 8 < previous