# Martijn H. Breuning

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/martijn-h-breuning/

## Facts

| Field | Value |
| --- | --- |
| Citations | 17,379 |
| Field | Genetic and Kidney Cyst Diseases |
| h-index | 62 |
| i10-index | 155 |
| Last Known Institution | Leiden University Medical Center |
| OpenAlex ID | https://openalex.org/A5111744174 |
| Works | 190 |

## Researcher papers

- [<b> <i>PKD2</i> </b> , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein](https://scholariq.org/papers/b-i-pkd2-i-b-a-gene-for-polycystic-kidney-disease-that-encodes-an-integral/)
- [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/)
- [Unified Criteria for Ultrasonographic Diagnosis of ADPKD](https://scholariq.org/papers/unified-criteria-for-ultrasonographic-diagnosis-of-adpkd/)
- [Comparison of phenotypes of polycystic kidney disease types 1 and 2](https://scholariq.org/papers/comparison-of-phenotypes-of-polycystic-kidney-disease-types-1-and-2/)
- [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/)
- [Conjunction dysfunction: CBP/p300 in human disease](https://scholariq.org/papers/conjunction-dysfunction-cbp-p300-in-human-disease/)
- [Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome](https://scholariq.org/papers/mutations-in-genes-encoding-subunits-of-rna-polymerases-i-and-iii-cause-treacher/)
- [Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease](https://scholariq.org/papers/lowering-of-pkd1-expression-is-sufficient-to-cause-polycystic-kidney-disease/)
- [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/)
- [Genotype-Renal Function Correlation in Type 2 Autosomal Dominant Polycystic Kidney Disease](https://scholariq.org/papers/genotype-renal-function-correlation-in-type-2-autosomal-dominant-polycystic/)

## Researcher topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Chromosomal and Genetic Variations](https://scholariq.org/topics/chromosomal-and-genetic-variations/)

## Researcher university

- [Leiden University Medical Center](https://scholariq.org/institutions/leiden-university-medical-center/)

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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.