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Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.American Journal of Human Genetics|October 1, 2019
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill InfantsStephen F Kingsmore, Julie A Cakici, Michelle M Clark, et al.Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.Nature Communications|July 26, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseasesMallory J Owen, Sebastien Lefebvre, Christian Hansen, et al.Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.Pageof 4