Yu Sun

Yu Sun

Shanghai Jiao Tong University - Shanghai / China
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 4963386
上海交通大学 SJTU
person_outline Yu Sun's MOST POPULAR ARTICLES
1-) Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ...Nature Genetics, 20126822012
2-) Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeGWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ...Nature genetics 44 (4), 379-380, 20124112012
3-) Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingCV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ...Nature genetics 46 (2), 188-193, 20143922014
4-) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargementY Sun, B Bak, N Schoenmakers, ASP van Trotsenburg, W Oostdijk, ...Nature Genetics 44 (12), 1375-1381, 20122372012
5-) Next‐generation diagnostics: gene panel, exome, or whole genome?Y Sun, CAL Ruivenkamp, MJV Hoffer, T Vrijenhoek, M Kriek, ...Human mutation 36 (6), 648-655, 20152102015