# Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/exome-capture-reveals-znf423-and-cep164-mutations-linking-renal-ciliopathies-to/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Moumita Chaki,Rannar Airik,Amiya K. Ghosh,Rachel H. Giles,Rui Chen,Gisela G. Slaats,Hui Wang,Toby W. Hurd,Weibin Zhou,Andrew Cluckey,Heon Yung Gee,Gokul Ramaswami,Chen‐Jei Hong,Bruce A. Hamilton,Igor Červenka,Ranjani Sri Ganji,Vı́tězslav Bryja,Heleen H. Arts,Jeroen van Reeuwijk,Machteld M. Oud,Stef J.F. Letteboer,Ronald Roepman,Hervé Husson,Oxana Ibraghimov‐Beskrovnaya,Takayuki Yasunaga,Gerd Walz,Lorraine Eley,John A. Sayer,Bernhard Schermer,Max C. Liebau,Thomas Benzing,Stéphanie Le Corre,Iain A. Drummond,Sabine Janssen,Susan J. Allen,S. Natarajan,John F. O’Toole,Massimo Attanasio,Sophie Saunier,Corinne Antignac,Robert K. Koenekoop,Huanan Ren,Irma López,Ahmet Nayır,Corinne Stoetzel,Hélène Dollfus,Rustin Massoudi,Joseph G. Gleeson,Sharon Andreoli,D Doherty,Anna Lindstrad,Christelle Golzio,Nicholas Katsanis,Lars Pape,Emad B. Abboud,Ali A. Al‐Rajhi,Richard A. Lewis,Heymut Omran,Eva Y.-H.P. Lee,Shaohui Wang,JoAnn Sekiguchi,Rudel A. Saunders,Colin A. Johnson,Elizabeth Garner,Katja Vanselow,Jens Andersen,Joseph Shlomai,Gudrun Nürnberg,Peter Nürnberg,Shawn Levy,Agata Smogorzewska,Edgar A. Otto,Friedhelm Hildebrandt |
| Citations | 398 |
| DOI | 10.1016/j.cell.2012.06.028 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0092867412007830/pdf |
| OpenAlex ID | https://openalex.org/W2138779444 |
| PMID | 22863007 |
| Type | article |
| Year | 2012 |

## Paper authors

- [John A. Sayer](https://scholariq.org/researchers/john-a-sayer/)
- [Max C. Liebau](https://scholariq.org/researchers/max-c-liebau/)
- [Gerd Walz](https://scholariq.org/researchers/gerd-walz/)
- [Thomas Benzing](https://scholariq.org/researchers/thomas-benzing/)
- [Corinne Antignac](https://scholariq.org/researchers/corinne-antignac/)

## Paper primary topic

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)

## Paper topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Organ Donation and Transplantation](https://scholariq.org/topics/organ-donation-and-transplantation/)

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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.