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De novo variants in neurodevelopmental disorders with epilepsy

2018312 citationsJournal Articlebronze Open Access

Authors

Henrike Heyne · Broad Institute

Tarjinder Singh · Broad Institute

Hannah Stamberger · University of Antwerp

Rami Abou Jamra · University Hospital Leipzig

Hande Çağlayan · Boğaziçi University

Dana Craiu · Carol Davila University of Medicine and Pharmacy

Peter De Jonghe ·

Topics & Keywords

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Nature Genetics

Volume 50, Issue 7, pp. 1048-1053

DOI: 10.1038/s41588-018-0143-7

Field-Weighted Citation Impact: 27.55

De novo variants in neurodevelopmental disorders with epilepsy | Researchclopedia

University of Antwerp

Renzo Guerrini · Meyer Children's Hospital

Katherine L. Helbig · Children's Hospital of Philadelphia

Bobby P.C. Koeleman · University Medical Center Utrecht

Jack A. Kosmicki · Broad Institute

Tarja Linnankivi · University of Helsinki

Patrick May · University of Luxembourg

Hiltrud Muhle · Christian-Albrechts-Universität zu Kiel

Rikke S. Møller · University of Southern Denmark

Bernd A. Neubauer · Universitätsklinikum Gießen und Marburg

Aarno Palotie · Broad Institute

Manuela Pendziwiat · Christian-Albrechts-Universität zu Kiel

Pasquale Striano · University of Genoa

Sha Tang · Ambry Genetics (United States)

Sitao Wu · Ambry Genetics (United States)

Annapurna Poduri · Boston Children's Hospital

Yvonne Weber · Hertie Institute for Clinical Brain Research

Sarah Weckhuysen · University of Antwerp

Sanjay M. Sisodiya · UCL Biomedical Research Centre

Mark J. Daly · Broad Institute

Ingo Helbig · Children's Hospital of Philadelphia

Dennis Lal · Broad Institute

Johannes R. Lemke · University Hospital Leipzig