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Claudia Ruivenkamp | Researchclopedia

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Claudia Ruivenkamp

Leiden University ORCID

201

Works

10,251

Citations

54

h-index

129

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Affiliations

Leiden University2008–2025

Karolinska University Hospital2004–2004

Children's Hospital of Los Angeles2018–2018

Utrecht University2018–2018

Leiden University Medical Center2003–2025

Top Works

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

Holly A.F. Stessman,Bo Xiong,et al.

2017572 citations

Chromosomal and Genetic Variations

Genetic Syndromes and Imprinting

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,et al.

2012423 citations

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

Johannes G. Dauwerse,Jill Dixon,et al.

2010366 citations

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

Gijs W.E. Santen,Emmelien Aten,et al.

2012349 citations

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,et al.

2008346 citations

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

Leopold Groesser,Eva Herschberger,et al.

2012329 citations

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma,A.C.J. Gijsbers,et al.

2009292 citations

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

Ron Hochstenbach,Ellen van Binsbergen,et al.

2009283 citations

Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers

Claudia Ruivenkamp,Tom van Wezel,et al.

2002261 citations