# Raoul C. M. Hennekam

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/raoul-c-m-hennekam/

## Facts

| Field | Value |
| --- | --- |
| Citations | 46,576 |
| Field | Genomic variations and chromosomal abnormalities |
| h-index | 108 |
| i10-index | 432 |
| Last Known Institution | University of Amsterdam |
| OpenAlex ID | https://openalex.org/A5054516309 |
| ORCID iD | https://orcid.org/0000-0002-6745-1522 |
| Works | 841 |

## Researcher papers

- [Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP](https://scholariq.org/papers/rubinstein-taybi-syndrome-caused-by-mutations-in-the-transcriptional-co/)
- [Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease](https://scholariq.org/papers/genetic-heterogeneity-in-rubinstein-taybi-syndrome-mutations-in-both-the-cbp-and/)
- [Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome](https://scholariq.org/papers/clinical-and-molecular-phenotype-of-aicardi-goutieres-syndrome/)
- [HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting](https://scholariq.org/papers/hnf1b-mutations-associate-with-hypomagnesemia-and-renal-magnesium-wasting/)
- [Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III](https://scholariq.org/papers/genotypic-and-phenotypic-spectrum-in-tricho-rhino-phalangeal-syndrome-types-i/)
- [Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients](https://scholariq.org/papers/coffin-siris-syndrome-and-the-baf-complex-genotype-phenotype-study-in-63/)
- [Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes](https://scholariq.org/papers/functional-dysregulation-of-cdc42-causes-diverse-developmental-phenotypes/)
- [Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism](https://scholariq.org/papers/genetic-heterogeneity-in-cornelia-de-lange-syndrome-cdls-and-cdls-like/)
- [LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome](https://scholariq.org/papers/lrp4-mutations-alter-wnt-catenin-signaling-and-cause-limb-and-kidney/)

## Researcher topics

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Congenital limb and hand anomalies](https://scholariq.org/topics/congenital-limb-and-hand-anomalies/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)
- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)

## Researcher university

- [University of Amsterdam](https://scholariq.org/institutions/university-of-amsterdam/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.