# High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/high-rate-of-recurrent-de-novo-mutations-in-developmental-and-epileptic/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Fadi F. Hamdan,Candace T. Myers,Patrick Cossette,Philippe Lemay,Dan Spiegelman,Alexandre D. Laporte,Christina Nassif,Ousmane Diallo,Jean Monlong,Maxime Cadieux‐Dion,Sylvia Dobrzeniecka,Caroline Meloche,Kyle Retterer,Megan T. Cho,Jill A. Rosenfeld,Weimin Bi,Christine Massicotte,Marguerite Miguet,Ledia Brunga,Brigid M. Regan,Kelly Mo,Cory Tam,Amy Schneider,Georgie Hollingsworth,David Fitzpatrick,Alan Donaldson,Natalie Canham,Edward Blair,Bronwyn Kerr,Andrew E. Fry,Rhys H. Thomas,Joss Shelagh,Jane A. Hurst,Helen Brittain,Moira Blyth,Robert Roger Lebel,Erica H. Gerkes,Laura Davis‐Keppen,Quinn Stein,Wendy K. Chung,Sara J. Dorison,Paul J. Benke,Emily Fassi,Nicole Corsten‐Janssen,Erik‐Jan Kamsteeg,Frédéric Tran Mau‐Them,Ange‐Line Bruel,Alain Verloès,Katrin Õunap,Monica H. Wojcik,Dara V.F. Albert,Sunita Venkateswaran,Tyson L. Ware,Dean Jones,Yu‐Chi Liu,Shekeeb S. Mohammad,Peyman Bizargity,Carlos A. Bacino,Vincenzo Leuzzi,Simone Martinelli,Bruno Dallapiccola,Marco Tartaglia,Lubov Blumkin,Klaas J. Wierenga,Gabriela Purcarin,James J. O’Byrne,Sylvia Stöckler,Anna Lehman,Boris Keren,Marie‐Christine Nouguès,Cyril Mignot,Stéphane Auvin,Caroline Nava,Susan M. Hiatt,Martina Bebin,Yunru Shao,Fernando Scaglia,Seema R. Lalani,Richard E. Frye,Imad T. Jarjour,Stéphanie Jacques,Renee-Myriam Boucher,Émilie Riou,Myriam Srour,Lionel Carmant,Anne Lortie,Philippe Major,Paola Diadori,François Dubeau,Guy D’Anjou,Guillaume Bourque,Samuel F. Berkovic,Lynette G. Sadleir,Philippe M. Campeau,Zoha Kibar,Ronald G. Lafrenière,Simon Girard,Saadet Mercimek‐Mahmutoglu,Cyrus Boelman,Guy A. Rouleau |
| Citations | 462 |
| DOI | 10.1016/j.ajhg.2017.09.008 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929717303774/pdf |
| OpenAlex ID | https://openalex.org/W2766662494 |
| PMID | 29100083 |
| Type | article |
| Year | 2017 |

## Paper authors

- [Stéphane Auvin](https://scholariq.org/researchers/stephane-auvin/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)

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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.