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American Journal of Medical Genetics. Part A|March 20, 2020
Limitations of exome sequencing in detecting rare and undiagnosed diseasesKendall J Burdick, Joy D Cogan, Lynette C Rives, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Molecular Genetics & Genomic Medicine|July 31, 2020
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases NetworkHeidi Cope, Rebecca Spillmann, Jill A Rosenfeld, et al.
Journal of Genetic Counseling|September 4, 2019
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testingChloe M Reuter, Jennefer N Kohler, Devon Bonner, et al.
Bioinformatics (Oxford, England)|November 6, 2023
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomicsMegan M Shuey, William W Stead, Ida Aka, et al.
American Journal of Human Genetics|February 22, 2024
De novo variants in DENND5B cause a neurodevelopmental disorderMarcello Scala, Valeria Tomati, Matteo Ferla, et al.
European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
Annals of Neurology|August 22, 2023
GABRA1-Related Disorders: From Genetic to Functional PathwaysElisa Musto, Vivian W Y Liao, Katrine M Johannesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
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