A. Meyer

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes

W. Wiszniewski, A. Antonellis, Stefan Nicolau, 2022, Human mutation.

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

W. Arnold, J. Kissel, David M Kline, 2020, Frontiers in Neurology.

A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy

A. Antonellis, M. E. Forrest, A. Meyer, 2022, Cold Spring Harbor molecular case studies.

Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions

S. Hashimoto, D. Corsmeier, V. Jayaraman, 2023, Muscle & nerve.

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study

C. Siskind, T. Moscarello, J. Roggenbuck, 2023, Journal of medical genetics.