EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, Barr E, Li H, Bruel AL, Faivre L, Them FTM, Botti C, Brooks S, Brooks S, Burns K, Ward I, Dutra-Clarke M, Martinez-Agosto JA, Lee H, Nelson SF, Zacher P, Abou Jamra R, Kloeckner C, Mcgaughran J, Kohlhase J, Schuhmann S, Moran E, Pappas J, Raas-Rothschild A, Sacoto MJG, Henderson LB, Palculict TB, Mullegama SV, Elloumi HZ, Reich A, Vergano SAS, Wahl E, Reis A, Zweier C (2022)

Publication Type: Conference contribution

Publication year: 2022

Journal

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

Publisher: SPRINGERNATURE

City/Town: LONDON

Pages Range: 246-247

Conference Proceedings Title: EUROPEAN JOURNAL OF HUMAN GENETICS

DOI: 10.1186/s13023-021-01744-1

Authors with CRIS profile

Ulrike Hüffmeier Medizinische Fakultät Cornelia Kraus Institute of Human Genetics Miriam Reuter Institute of Human Genetics Steffen Uebe Institute of Human Genetics Sarah Schuhmann Institute of Human Genetics André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Christiane Zweier Medizinische Fakultät

Involved external institutions

University of Massachusetts Amherst (UMass)

United States (USA) (US) Kaiser Permanente

United States (USA) (US) University of California Los Angeles (UCLA)

United States (USA) (US) Universität Leipzig

Germany (DE) SYNLAB MVZ Humangenetik Freiburg GmbH

Germany (DE) Emory University

United States (USA) (US) Université Bourgogne Franche-Comté

France (FR) The State University of New Jersey (Rutgers)

United States (USA) (US) Sanford Health

United States (USA) (US) University of Queensland

Australia (AU) New York University (NYU)

United States (USA) (US) Tel Aviv University

Israel (IL) GeneDX

United States (USA) (US) Children's Hospital of The King's Daughters

United Kingdom (GB) University at Buffalo. State University of New York

United States (USA) (US)

How to cite

APA:

Hüffmeier, U., Kraus, C., Reuter, M., Uebe, S., Abbott, M.-A., Ahmed, S.A.,... Zweier, C. (2022). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. In EUROPEAN JOURNAL OF HUMAN GENETICS (pp. 246-247). LONDON: SPRINGERNATURE.

MLA:

Hüffmeier, Ulrike, et al. "EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum." Proceedings of the EUROPEAN JOURNAL OF HUMAN GENETICS LONDON: SPRINGERNATURE, 2022. 246-247.

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