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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2018
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degenerationFarzad Jamshidi, Emily M Place, Sudeep Mehrotra, et al.American Journal of Medical Genetics. Part A|August 12, 2016
Phenotypic evolution of UNC80 loss of functionElise Valkanas, Katherine Schaffer, Christopher Dunham, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2016
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experienceElizabeth M J Lee, Karen Xu, Emma Mosbrook, et al.Human Mutation|September 22, 2018
matchbox: An open-source tool for patient matching via the Matchmaker ExchangeHarindra Arachchi, Monica H Wojcik, Benjamin Weisburd, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 13, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weaknessAna Töpf, Katherine Johnson, Adam Bates, et al.Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.Physiological Genomics|October 23, 2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and SudanMadhurima Saha, Hemakumar M Reddy, Mustafa A Salih, et al.Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.Skeletal Muscle|August 1, 2018
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weaknessKatherine Johnson, Marta Bertoli, Lauren Phillips, et al.Pageof 2