We have been studying the genetics of muscular dystrophy since the 2000s, using a succession of approaches including linkage analysis/homozygosity mapping, exome sequencing, and now long read genome sequencing.  We have focused particularly on cohorts of individuals with unsolved or partially solved cases of limb-girdle muscular dystrophy (LGMD), but have also studied genetic issues in congenital muscular dystrophy and Duchenne muscular dystrophy.  Notable discoveries include the identification of JAG2 as a muscular dystrophy gene, the association of PYROXD1 with LGMD, a contribution to the identification of POLRMT as a neurological disease gene, and the characterization of diagnostic rates for exome sequencing in LGMD.