# De novo variants in neurodevelopmental disorders with epilepsy

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/de-novo-variants-in-neurodevelopmental-disorders-with-epilepsy/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Henrike Heyne,Tarjinder Singh,Hannah Stamberger,Rami Abou Jamra,Hande Çağlayan,Dana Craiu,Peter De Jonghe,Renzo Guerrini,Katherine L. Helbig,Bobby P.C. Koeleman,Jack A. Kosmicki,Tarja Linnankivi,Patrick May,Hiltrud Muhle,Rikke S. Møller,Bernd A. Neubauer,Aarno Palotie,Manuela Pendziwiat,Pasquale Striano,Sha Tang,Sitao Wu,Annapurna Poduri,Yvonne Weber,Sarah Weckhuysen,Sanjay M. Sisodiya,Mark J. Daly,Ingo Helbig,Dennis Lal,Johannes R. Lemke |
| Citations | 319 |
| DOI | 10.1038/s41588-018-0143-7 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://www.nature.com/articles/s41588-018-0143-7.pdf |
| OpenAlex ID | https://openalex.org/W2809226260 |
| PMID | 29942082 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Renzo Guerrini](https://scholariq.org/researchers/renzo-guerrini/)
- [Sha Tang](https://scholariq.org/researchers/sha-tang/)

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