Lisa A. Rimer

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

Virginia Kimonis, Margaret J. Kovach, Brook Waggoner et al. · Genetics in Medicine · 2000 · 143 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency

Roberto T. Zori, Fatih Z Boyar, William N. Williams et al. · American Journal of Medical Genetics · 1998 · 87 citations

Dentistry, Speech-language Pathology, Cleft Palate Surgery +15

A Unique Point Mutation in the PMP22 Gene Is Associated with Charcot-Marie-Tooth Disease and Deafness

Margaret J. Kovach, Jing‐Ping Lin, Simeon A. Boyadjiev et al. · The American Journal of Human Genetics · 1999 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Kousseff syndrome caused by deletion of chromosome 22q11‐13

Shawnia Forrester, Margaret J. Kovach, Randell E. Smith et al. · American Journal of Medical Genetics · 2002 · 56 citations · Full text

Medicine, Genetics, Pediatrics +17