Raoul C. M. Hennekam

Author

Amsterdam UMC Location University of Amsterdam ORCID

Also Known As

Angela Peron, Bing Xiao, Hennekam, R. C. M., Hennekam, Raoul C. M., Jan Heering, Kinga Hadzsiev, Lex Beets, Lo, Chien-Ning, Marco Tartaglia, Moog, Ute

839

Publications

45.8K

Citations

106

H-Index

250

Concepts

All Affiliations

Amsterdam UMC Location University of Amsterdam University of Amsterdam University College London Great Ormond Street Hospital Emma Kinderziekenhuis

About

Raoul C. M. Hennekam is an author at Amsterdam UMC Location University of Amsterdam specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Health Sciences	7	7	268
2	Engineering	4	4	417
3	Education	2	2	127
4	Language Studies	1	1	95
5	Law	1	1	17

Raoul C. M. Hennekam

326

Publications

34.6K

Citations

H-Index

Page 1

	Year	Citations
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development Yaoqin Gong, Roger B. Slee, N Fukai, Cell Bone AccrualSclerostinSignal TransductionMolecular PhysiologyDevelopmental Biology	2001	2.2K
Revised diagnostic criteria for the Marfan syndrome Anne De Paepe, Richard B. Devereux, Harry C. Dietz, American Journal of Medical Genetics	1996	1.6K
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP Fred Petrif, Rachel H. Giles, Hans G. Dauwerse, Nature Transcriptional RegulationRubinstein-taybi SyndromeMendelian DisorderGenetic DisorderGenetics	1995	1.2K
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes Heather C. Mefford, Andrew J. Sharp, Carl Baker, New England Journal of Medicine	2008	803
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel, Cell Eec SyndromeMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	1999	709
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome Andrew J. Sharp, S.K. Hansen, Rebecca R. Selzer, Nature Genetics Mendelian DisorderGenetic DisorderUnidentified Genomic DisordersGeneticsMedicine	2006	663
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome Tetsuya Niihori, Yoko Aoki, Yoko Narumi, Nature Genetics Mendelian DisorderGenetic DisorderGermline KrasGeneticsDermatology	2006	593
Mapping the human DC lineage through the integration of high-dimensional techniques Peter See, Charles‐Antoine Dutertre, Jinmiao Chen, Science	2017	558
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired Stephen Brown, Dorothy Warburton, Lucia Brown, Nature Genetics BiologyDevelopmental BiologyDevelopmental GeneticsGeneticsMedicine	1998	521
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek, The American Journal of Human Genetics Rubinstein-taybi SyndromeMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease	2005	467

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