# Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/monoallelic-ift140-pathogenic-variants-are-an-important-cause-of-the-autosomal/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Sarah R. Senum,Ying Li,Katherine A. Benson,Giancarlo Joli,Eric Olinger,Sravanthi Lavu,Charles D. Madsen,Adriana Gregory,Ruxandra Neatu,Timothy L. Kline,Marie‐Pierre Audrézet,Patricia Outeda,Cherie B. Nau,Esther Meijer,Hamad Ali,Theodore I. Steinman,Michal Mrug,Paul J. Phelan,Terry Watnick,Dorien J.M. Peters,Albert Ong,Peter J. Conlon,Ronald D. Perrone,Émilie Cornec-Le Gall,Marie C. Hogan,Vicente E. Torres,John A. Sayer,Peter C. Harris |
| Citations | 171 |
| DOI | 10.1016/j.ajhg.2021.11.016 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929721004365/pdf |
| OpenAlex ID | https://openalex.org/W4200009634 |
| PMID | 34890546 |
| Type | article |
| Year | 2021 |

## Paper authors

- [Vicente E. Torres](https://scholariq.org/researchers/vicente-e-torres/)
- [Ronald D. Perrone](https://scholariq.org/researchers/ronald-d-perrone/)
- [Émilie Cornec-Le Gall](https://scholariq.org/researchers/emilie-cornec-le-gall/)
- [Michal Mrug](https://scholariq.org/researchers/michal-mrug/)
- [Ying Li](https://scholariq.org/researchers/ying-li/)
- [Peter C. Harris](https://scholariq.org/researchers/peter-c-harris/)

## 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/)
- [Epigenetics and DNA Methylation](https://scholariq.org/topics/epigenetics-and-dna-methylation/)

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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.