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	Title	Author(s)	Issue Date
	Differentiating truncatin MN1 variants in the C- and N-terminal regions: Ai-driven geno, -epigoeno, -phenotyping using deep facial phenotyping and methylation profiling. Proceeding/Conference:44th Annual David W. Smith Workshop on Malformations and Morphogenesis (25/08/2023-30/08/2023, Massachusetts)	Chung, Brian Hon Yin Mak, Christopher Chun Yu Klinkhammer, H Reko, N Lin, AE Gordon, GT Doherty, D Krawitz, PM Choufani, S	25-Aug-2023
	Differentiating truncation MN1 variants in the C- and N-terminal regions: Ai-driven geno, -epigoeno, -phenotyping using deep facial phenotyping and methylation profiling Proceeding/Conference:27th Annual Scientific Meeting - Theme: Lymphoma. Malaysian Society of Paediatric Haematology and Oncology (25/08/2023-30/08/2023, Massachusetts)	Chung, Brian Hon Yin Klinkhammer, H Reko, N Lin, AE Gordon, GT Doherty, D Krawitz, PM Choufani, S Mak, Christopher Chun Yu	25-Aug-2023
	High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses Journal:Journal of Human Genetics	Hammarsjo, A Pettersson, M Chitayat, D Handa, A Anderlid, BM Bartocci, M Basel, D Batkovskyte, D Beleza-Meireles, A Conner, P Eisfeldt, J Girisha, KM Chung, BHY Horemuzova, E Hyodo, H Kornejeva, L Lagerstedt-Robinson, K Lin, AE Magnusson, M Moosa, S Nayak, SS Nilsson, D Ohashi, H Ohashi-Fukuda, N Stranneheim, H Taylan, F Traberg, R Voss, U Wirta, V Nordgren, A Nishimura, G Lindstrand, A Grigelioniene, G	2021
	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

Showing results 1 to 4 of 4