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Showing results 1 to 6 of 6

	Title	Author(s)	Issue Date	Views
	Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management Journal:Clinical Genetics	Avila, M Dyment, DA Sagen, JV St-Onge, J Moog, U Chung, BHY Mansour, S Albanese, A Garcia,, S Ortiz Martin, D Lopez, AA Claudi, T König, R White, SM Sawyer, SL Bernstein, JA Slattery, L Jobling, RK Yoon, G Curry, CJ Le Merrer, M Le Luyer, B Héron, D Mathieu-Dramard, M Bitoun, P Odent, S Amiel, J Kuentz, P Thevenon, J Laville, M Reznik, Y Fagour, C Nunes, ML Delesalle, D Manouvrier, S Lascols, O Huet, F Binquet, C Faivre, L Rivière, JB Vigouroux, C Njølstad, PR Innes, AC Thauvin-Robinet, C	2016	45
	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
	Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases Journal:Human Mutation	Vegas, N Demir, Z Gordon, CT Breton, S Romanelli Tavares, VL Moisset, H Zechi-Ceide, R Kokitsu-Nakata, NM Kido, Y Marlin, S Gherbi Halem, S Meerschaut, L Callewaert, B Chung, BHY Revencu, N Lehalle, D Petit, F Propst, EJ Papsin, BC Phillips, JH Jakobsen, L Le Tanno, P Thevenon, J McGaughran, J Gerkes, EH Leoni, C Kroisel, P Tan, TY Henderson, A Terhal, P Basel-Salmon, L Alkindy, A White, SM Passos-Bueno, MR Pingault, V De Pontual, L Amiel, J	2022	8
	Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children Journal:Clinical Dysmorphology	Yu, KPT Luk, HM Gordon, CT Fung, G Oufadem, M Garcia-Barcelo, MM Amiel, J Chung, BHY Lo, FMI Tan, TY	2018
	Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Fung, GPC Chu, WY Chan, HB Oufadem, M Amiel, J Gordon, CT Chung, BHY Tan, TY	2014	62
	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

Showing results 1 to 6 of 6