Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B. Cummings, Daniel G. MacArthur, Fengmei Zhao 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
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M. Rossor, Kathryn N. North, Emily C. Oates et al.|Brain|2014Cited by 100
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C. Dworschak, Roy N. Alcalay, Jaya Punetha et al.|Genetics in Medicine|2021Cited by 38