Michiel J.R. van der Wielen

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis

Richard J.L.F. Lemmers, Peggy de Kievit, Michel van Geel et al. · Annals of Neurology · 2001 · 99 citations

Life Sciences, Genetics, Molecular Genetics +12

Somatic mosaicism in FSHD often goes undetected

Richard J.L.F. Lemmers, Michiel J.R. van der Wielen, Egbert Bakker et al. · Annals of Neurology · 2004 · 86 citations

Life Sciences, Genetics, Molecular Genetics +17

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

Emmelien Aten, Lisa C. Brasz, Dorothea Bornholdt et al. · Human Mutation · 2010 · 80 citations · Full text

Medicine, Dermatology, Genetics +17

A novel variant of FGFR3 causes proportionate short stature

Sarina G. Kant, Iveta Cervenkova, Lukáš Bálek et al. · European Journal of Endocrinology · 2015 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17