Yu Sun

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek et al. · Nature Genetics · 2012 · 641 citations · Full text

Rare Diseases, Developmental Biology, Mendelian Disorder +10

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 365 citations

Mitochondrial Myopathy, Mitochondrial Calcium, Muscle Disorder +11

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Gijs W.E. Santen, Emmelien Aten, Yu Sun et al. · Nature Genetics · 2012 · 348 citations · Full text

Chromatin, Genome Instability, Swi/snf Chromatin +10

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Yu Sun, Beata Bąk, Nadia Schoenmakers et al. · Nature Genetics · 2012 · 215 citations · Full text

Developmental Biology, Mendelian Disorder, Central Hypothyroidism +9

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Peter Thijssen, Yuya Ito, Giacomo Grillo et al. · Nature Communications · 2015 · 207 citations · Full text