# Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/whole-exome-resequencing-reveals-recessive-mutations-in-trap1-in-individuals/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Pawaree Saisawat,Stefan Kohl,Alina C. Hilger,Daw‐Yang Hwang,Heon Yung Gee,Gabriel C. Dworschak,Velibor Tasić,Tracie Pennimpede,S. Natarajan,Ethan D. Sperry,Danilo Swann Matassa,Nataša Stajić,Radovan Bogdanović,Ivo de Blaauw,Carlo Marcelis,Charlotte H. W. Wijers,Enrika Bartels,Eberhard Schmiedeke,Dominik Schmidt,Stefanie Märzheuser,Sabine Grasshoff‐Derr,Stefan Holland‐Cunz,Michael Ludwig,Markus M. Nöthen,Markus Draaken,Erwin Brosens,Hugo A. Heij,Dick Tibboel,Bernhard G. Herrmann,Benjamin D. Solomon,Annelies de Klein,Iris A.L.M. van Rooij,Franca Esposito,Heiko Reutter,Friedhelm Hildebrandt |
| Citations | 129 |
| DOI | 10.1038/ki.2013.417 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.kidney-international.org/article/S0085253815563540/pdf |
| OpenAlex ID | https://openalex.org/W2096760741 |
| PMID | 24152966 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Gabriel C. Dworschak](https://scholariq.org/researchers/gabriel-c-dworschak/)

## Paper journal

- [Kidney International](https://scholariq.org/journals/kidney-international/)

## Paper primary topic

- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)

## Paper topics

- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Renal cell carcinoma treatment](https://scholariq.org/topics/renal-cell-carcinoma-treatment/)

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