Rebecca Meyer‐Schuman

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

Kathryn H. Morelli, Laurie B. Griffin, Nettie K. Pyne et al. · Journal of Clinical Investigation · 2019 · 69 citations · Full text

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

Molly E. Kuo, Arjan F. Theil, Anneke J.A. Kievit et al. · The American Journal of Human Genetics · 2019 · 56 citations · Full text

Genetic Diseases, Recessive Disease That, Developmental Biology +10

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

Jamie A. Abbott, Rebecca Meyer‐Schuman, Vincenzo Lupo et al. · Human Mutation · 2017 · 33 citations · Full text

Molecular Biology, Peripheral Nerve, Peripheral Nerves +18

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease

Jonathan Rips, Rebecca Meyer‐Schuman, Oded Breuer et al. · European Journal of Medical Genetics · 2018 · 26 citations · Full text

Hepatology, Pathogenesis, Immunology +6

Bi‐allelic mutations in <i>HARS1</i> severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome

Daniele Galatolo, Molly E. Kuo, Patrick Mullen et al. · Human Mutation · 2020 · 23 citations · Full text

Genetics, Molecular Biology, Pathology +19