Claudia Ruivenkamp

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly A.F. Stessman, Bo Xiong, Bradley P. Coe et al. · Nature Genetics · 2017 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Cornelis A. Albers, Dirk S. Paul, Harald Schulze et al. · Nature Genetics · 2012 · 426 citations

Life Sciences, Genetics, Molecular Genetics +6

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 368 citations

Life Sciences, Genetics, Molecular Genetics +7

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 · 350 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Femke Hannes, Andrew J. Sharp, Heather C. Mefford et al. · Journal of Medical Genetics · 2008 · 346 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17