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Showing results 1 to 9 of 9

	Title	Author(s)	Issue Date	Views
	Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy Journal:American Journal of Medical Genetics Part A	Lehman, AM Eydoux, P Doherty, D Glass, IA Chitayat, D Chung, BYH Langlois, S Yong, SL Lowry, RB Hildebrandt, F Trnka, P	2010	69
	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
	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
	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
	PIAS4 represses vitamin D receptor-mediated signaling and acts as an E3-SUMO ligase towards vitamin D receptor Journal:The Journal of Steroid Biochemistry and Molecular Biology	Jena, S Lee, WP Doherty, D Thompson, P	2012	44
	Racial heritage/melanin and otoacoustic emission measures of cochlear function Journal:Asia Pacific Journal of Speech Language and Hearing	Driscoll, C Kei, J Arnold, S Doherty, D Krajewski, J McDonald, G McKeering, E Tyrrell, M McPherson, DB	2009	110
	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
	Sentrin/sumo Specific Proteases As Novel Tissue-selective Modulators Of Vitamin D Receptor-mediated Signaling Journal:PLoS ONE	Lee, WP Jena, S Doherty, D Ventakesh, J Schimdt, J Furmick, J Widener, T Lemau, J Jurutka, PW Thompson, PD	2014	31

Showing results 1 to 9 of 9