Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

Richard J L F Lemmers; Patrick J van der Vliet; Ana Blatnik; Judit Balog; Janez Zidar; Don Henderson; Rianne Goselink; Stephen J Tapscott; Nicol C Voermans; Rabi Tawil; George W A M Padberg; Baziel GM van Engelen; Silvère M van der Maarel

doi:10.1136/jmedgenet-2020-107041

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Neurogenetics

Original research

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

Authors

Richard J L F Lemmers Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Patrick J van der Vliet Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Ana Blatnik Cancer Genetics Clinic, Institute of Oncology, Ljubljana, Slovenia PubMed articles Google scholar articles
Judit Balog Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Janez Zidar Division of Neurology, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia PubMed articles Google scholar articles
Don Henderson Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA PubMed articles Google scholar articles
Rianne Goselink Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articles Google scholar articles
Stephen J Tapscott Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA PubMed articles Google scholar articles
Nicol C Voermans Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articles Google scholar articles
Rabi Tawil Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA PubMed articles Google scholar articles
George W A M Padberg Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articles Google scholar articles
Baziel GM van Engelen Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands PubMed articles Google scholar articles
Silvère M van der Maarel Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles

Correspondence to Dr Richard J L F Lemmers, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands; r.j.l.f.lemmers{at}lumc.nl

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Citation

Lemmers RJLF, van der Vliet PJ, Blatnik A, et al

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

Journal of Medical Genetics 2022;59:180-188.

Publication history

Received May 28, 2020
Revised October 5, 2020
Accepted November 14, 2020
First published January 12, 2021.

Online issue publication

January 21, 2022

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