# Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/rare-germline-heterozygous-missense-variants-in-brca1-associated-protein-1-bap1/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Sébastien Küry,Frédéric Ebstein,Alice Mollé,Thomas Besnard,Ming-Kang Lee,Virginie Vignard,Tiphaine Héry,Mathilde Nizon,Grazia M.S. Mancini,Jacques C. Giltay,Benjamin Cogné,Kirsty McWalter,Wallid Deb,Hagar Mor‐Shaked,Hong Li,Rhonda E. Schnur,Ingrid M. Wentzensen,Anne‐Sophie Denommé‐Pichon,Cynthia Fourgeux,Frans W. Verheijen,Eva Faurie,Rachel Schot,Cathy A. Stevens,Daphne J. Smits,Eileen Barr,Ruth Sheffer,Jonathan A. Bernstein,Chandler L. Stimach,Eliana Kovitch,Vandana Shashi,Kelly Schoch,Whitney Smith,Richard H. van Jaarsveld,Anna Hurst,Kirstin Smith,Evan H. Baugh,Suzanne G. Bohm,Emílie Vyhnálková,Lukáš Ryba,Capucine Delnatte,Juanita Neira,Dominique Bonneau,Annick Toutain,Jill A. Rosenfeld,Séverine Audebert‐Bellanger,Brigitte Gilbert‐Dussardier,Sylvie Odent,Frédéric Laumonnier,Seth Berger,Ann C. M. Smith,Franck Bourdeaut,Marc‐Henri Stern,Richard Redon,Elke Krüger,Raphaël Margueron,Stéphane Bezieau,Jérémie Poschmann,Bertrand Isidor |
| Citations | 25 |
| DOI | 10.1016/j.ajhg.2021.12.011 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929721004663/pdf |
| OpenAlex ID | https://openalex.org/W4205842529 |
| PMID | 35051358 |
| Type | article |
| Year | 2022 |

## Paper authors

- [Hagar Mor‐Shaked](https://scholariq.org/researchers/hagar-mor-shaked/)

## Paper primary topic

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

## Paper topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Ubiquitin and proteasome pathways](https://scholariq.org/topics/ubiquitin-and-proteasome-pathways/)
- [Chromatin Remodeling and Cancer](https://scholariq.org/topics/chromatin-remodeling-and-cancer/)

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