Claudia Ruivenkamp
Leiden University(NL)Leiden University Medical Center(NL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Chromosomal and Genetic Variations, Genetic Syndromes and Imprinting
Most-Cited Works
- → Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
- → Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome(2012)421 cited
- → Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome(2010)366 cited
- → Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome(2012)349 cited
- → 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(2008)346 cited
- → Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome(2012)329 cited