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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Richard J.L.F. Lemmers, Patrick J. van der Vliet, David San León, Nienke van der Stoep, Henk P.J. Buermans, Robin van Schendel, +10 more
17citations -
SVision: a deep learning approach to resolve complex structural variants2022 Nature Methods article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent
Jiadong Lin, Songbo Wang, Peter A. Audano, Deyu Meng, Jacob I. Flores, Walter A. Kosters, +5 more
119citations
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