Claudia Ruivenkamp - Concepedia

Author

Claudia Ruivenkamp

Also Known As

C A L Ruivenkamp, C A Ruivenkamp, C Ruivenkamp, C. A. L. Ruivenkamp, C. Ruivenkamp, C.A. Ruivenkamp, C.A.L. Ruivenkamp, Claudia A L Ruivenkamp, Claudia A Ruivenkamp, Claudia A. L. Ruivenkamp

201

Publications

10.1K

Citations

H-Index

136

Concepts

All Affiliations

Leiden University Medical Center Radboud University Nijmegen Radboud University Medical Center Erasmus MC University Medical Center Utrecht

About

Claudia Ruivenkamp is an author at Leiden University Medical Center specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	37	54	5.7K
2	Public Health	5	5	338
3	Natural Sciences	3	3	814
4	Education	1	1	85
5	Health Sciences	1	1	36

Claudia Ruivenkamp

116

Publications

9.1K

Citations

H-Index

Page 1

	Year	Citations
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Nature Genetics Neurodevelopmental DisordersSyndromic AutismGeneticsPsychiatric GeneticsAutism	2017	558
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, Nature Genetics Compound InheritanceMendelian DisorderGenetic DisorderGeneticsGenomic Mechanism	2012	419
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome Johannes G. Dauwerse, Jill Dixon, Saskia Seland, Nature Genetics Mendelian DisorderTreacher CollinsRna PolymerasesGenetic DisorderNatural Sciences	2010	364
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome Gijs W.E. Santen, Emmelien Aten, Yu Sun, Nature Genetics ChromatinGenome InstabilitySwi/snf ChromatinChromatin StructureChromatin Remodeling	2012	348
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, Journal of Medical Genetics	2008	346
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome Leopold Groesser, Eva Herschberger, Arno Ruetten, Nature Genetics Genetic DisorderMedicineGeneticsPathologyDermatology	2012	327
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, Janneke Schuurs-Hoeijmakers, European Journal of Medical Genetics Normal IndividualsPsychiatrySyndromic AutismGenetic DisorderGenetics	2009	292
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, J.J.M. Engelen, European Journal of Medical Genetics Developmental AnomalyEarly DiagnosisWorkflow ConsequencesCognitive DevelopmentPediatrics	2009	281
Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers Claudia Ruivenkamp, Tom van Wezel, Carlo Zanon, Nature Genetics Tumor BiologyMedicineColorectal CancerPathologyCancer Biology	2002	260
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Nature Communications	2019	236

Page 1