Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome

Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J, Morton J, Tomkins S, Low K, Weber A, Wenzel M, Altmueller J, Li Y, Wollnik B, Hoganson G, Plona M, Cho MT, Thiel C, Luedecke H, Strom TM, Calpena E, Wilkie AOM, Wieczorek D, Engel F, Wiesmann da Silva Reis A (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: 805-806

Conference Proceedings Title: EUROPEAN JOURNAL OF HUMAN GENETICS

Event location: Milan, ITALY

DOI: 10.1016/j.ajhg.2018.01.014

Authors with CRIS profile

Sabine Endele Institute of Human Genetics Bernt Popp Institute of Human Genetics Christian Büttner Lehrstuhl für Humangenetik Arif Bülent Ekici Institute of Human Genetics Christian Thiel Medizinische Fakultät Felix Engel Department of Nephropathology André Wiesmann da Silva Reis Lehrstuhl für Humangenetik

Involved external institutions

University of Oxford

United Kingdom (GB) Universität Duisburg-Essen (UDE)

Germany (DE) Birmingham Women's and Children's NHS Foundation Trust

United Kingdom (GB) University of Illinois Hospital & Health Sciences System

United States (USA) (US) Liverpool Women's NHS Foundation Trust

United Kingdom (GB) University Hospitals Bristol NHS Foundation Trust

United Kingdom (GB) Universitätsklinikum Göttingen

Germany (DE) GeneDX

United States (USA) (US) genetikum – Genetische Beratung & Diagnostik

Germany (DE) Universität zu Köln

Germany (DE) Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (HMGU) / Helmholtz Munich

Germany (DE) Centre Hospitalier Universitaire de Caen

France (FR) Central Manchester University Hospitals

United Kingdom (GB)

How to cite

APA:

Vasileiou, G., Vergarajauregui, S., Endele, S., Popp, B., Büttner, C., Ekici, A.B.,... Wiesmann da Silva Reis, A. (2019). Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome. In EUROPEAN JOURNAL OF HUMAN GENETICS (pp. 805-806). Milan, ITALY: LONDON: NATURE PUBLISHING GROUP.

MLA:

Vasileiou, G., et al. "Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome." 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. 805-806.

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