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Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 7 patents
Richard J.L.F. Lemmers, Patrick J. van der Vliet, Ana Blatnik, Judit Balog, Janez Zidar, Don Henderson, +7 more
44citations -
A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Remko Goossens, Mara S. Tihaya, Anita van den Heuvel, Klorane Tabot-Ndip, Iris M. Willemsen, Stephen J. Tapscott, +5 more
5citations -
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping2023 Neurology Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Naga Guruju, Vanessa Jump, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Ruby Liu, Babi Ramesh Reddy Nallamilli, +6 more
23citations
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