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Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|May 29, 2025
Interferon-γ Therapy in Patients With Refractory Disseminated CoccidioidomycosisChen Wang, Brenna A LaBere, Michell M Lozano Chinga, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|November 17, 2025
IL12RB1 deficiency appearing in North America: expanding the clinical phenotypesChen Wang, Beatriz E Marciano, Annalie J Harris, et al.
Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.
American Journal of Human Genetics|October 4, 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeVandana Shashi, Loren D M Pena, Katherine Kim, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2016
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho, et al.
Frontiers in Immunology|May 22, 2023
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunityBreanna J Beers, Morgan N Similuk, Rajarshi Ghosh, et al.
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