A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its Pathomechanism
Peter Meinke, Alastair R. W. Kerr, Rafal Czapiewski, Jose I. de las Heras, Charles R. Dixon, Elizabeth Harris, Heike Kölbel, Francesco Muntoni A, Ulrike Schara, Volker W. Straub, Benedikt G. H. Schoser, Manfred S. Wehnert, Eric C. Schirmer
EBioMedicine · Dec 17, 2019Peer-reviewedGenetics