De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila

Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzales XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Study DDD, Fliedner A, Gregor A, Sticht H, Zweier C (2019)

Publication Type: Conference contribution

Publication year: 2019

Journal

European Journal of Human Genetics Nature Publishing Group: Open Access Hybrid Model Option B

Publisher: NATURE PUBLISHING GROUP

City/Town: LONDON

Pages Range: 850-851

Conference Proceedings Title: EUROPEAN JOURNAL OF HUMAN GENETICS

Event location: Milan, ITALY

Authors with CRIS profile

Jonas Straub Institute of Human Genetics Enrico Konrad Institute of Human Genetics Johanna Grüner Medizinische Fakultät Anna Fliedner Lehrstuhl für Humangenetik Anne Gregor Institute of Human Genetics Heinrich Sticht Professur für Bioinformatik Christiane Zweier Medizinische Fakultät

Involved external institutions

GeneDX

United States (USA) (US) Cook Children's Health Care System

United States (USA) (US) Children's Hospital of Philadelphia

United States (USA) (US) Boston Children's Hospital

United States (USA) (US) Wellcome Trust Sanger Institute - Genome Research Limited

United Kingdom (GB) Maastricht University

Netherlands (NL) University of Toronto

Canada (CA) Maxima Medisch Centrum MMC Veldhoven

Netherlands (NL) Duke University

United States (USA) (US) Centre Hospitalier Régional Universitaire de Tours

France (FR) Ambry Genetics

United States (USA) (US)

How to cite

APA:

Straub, J., Konrad, E., Grüner, J., Toutain, A., Bok, L.A., Cho, M.T.,... Zweier, C. (2019). De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila. In EUROPEAN JOURNAL OF HUMAN GENETICS (pp. 850-851). Milan, ITALY: LONDON: NATURE PUBLISHING GROUP.

MLA:

Straub, Jonas, et al. "De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila." Proceedings of the 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY LONDON: NATURE PUBLISHING GROUP, 2019. 850-851.

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