Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype

Zanoni P, Steindl K, Sengupta D, Sticht H, Joset P, Baar A, Van Ravenswaaij-Arts CMA, Shinawi M, Maystadt I, Belnap N, Benoit V, De Vries BBA, Lacombe D, Larson A, Pfundt R, Ramsey K, Blok LS, Wheeler PG, Wevers MR, Gozani O, Rauch A (2020)

Publication Type: Conference contribution

Publication year: 2020

Journal

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

Publisher: SPRINGERNATURE

City/Town: LONDON

Pages Range: 355-356

Conference Proceedings Title: EUROPEAN JOURNAL OF HUMAN GENETICS

Authors with CRIS profile

Heinrich Sticht Professur für Bioinformatik

Involved external institutions

University of Zurich / Universität Zürich (UZH)

Switzerland (CH) Radboud University Nijmegen

Netherlands (NL) Orlando Health Arnold Palmer Hospital for Children

United States (USA) (US) University Medical Center Groningen (UMCG) / Universitair Medisch Centrum Groningen

Netherlands (NL) Centre Hospitalier Universitaire de Bordeaux / CHU Bordeaux

France (FR) City of Hope Medical Center

United States (USA) (US) Stanford University

United States (USA) (US) Washington University in St. Louis

United States (USA) (US) University of Colorado System

United States (USA) (US)

How to cite

APA:

Zanoni, P., Steindl, K., Sengupta, D., Sticht, H., Joset, P., Baar, A.,... Rauch, A. (2020). Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype. In EUROPEAN JOURNAL OF HUMAN GENETICS (pp. 355-356). LONDON: SPRINGERNATURE.

MLA:

Zanoni, P., et al. "Loss-of-function truncating and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct neurodevelopmental phenotype." Proceedings of the EUROPEAN JOURNAL OF HUMAN GENETICS LONDON: SPRINGERNATURE, 2020. 355-356.

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