Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B. Cummings, Daniel G. MacArthur, Elicia Estrella et al.|Science Translational Medicine|2017Cited by 809
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C. Oates, Susan T. Iannaccone, Kristi Jones et al.|Annals of Neurology|2018Cited by 164
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B. Cummings, Daniel G. MacArthur, Jamie L. Marshall et al.|bioRxiv (Cold Spring Harbor Laboratory)|2016Cited by 150
Mutations in <i>HSPB8</i> causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Bjarne Udd|Neurology|2015Cited by 135
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 CasesJaya Punetha, Eric P. Hoffman, Akanchha Kesari et al.|Journal of Neuromuscular Diseases|2016Cited by 20