Publications
Filters: Author is Barakat, Tahsin Stefan [Clear All Filters]
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 ;9(1):18.
. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 ;92(2):304-321.
. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 ;107(6):1096-1112.
. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 ;23(11):2122-2137.
. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 ;104(8):3049-3067.
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