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 · 558 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetics +13

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 · 419 citations

Compound Inheritance, Mendelian Disorder, Genetic Disorder +8

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 · 364 citations

Mendelian Disorder, Treacher Collins, Rna Polymerases +9

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

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