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Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.Frontiers in Medicine|June 13, 2017
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program ExperienceTimothy Gall, Elise Valkanas, Christofer Bello, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.Pageof 2