Last Updated: 09/26/2026
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Found 7 publications
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Journal: Science advances
Published: September 13, 2024
Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.
Journal: International journal of neonatal screening
Published: April 29, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Journal: American journal of medical genetics. Part A
Published: September 28, 2020
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Journal: Nature communications
Published: December 20, 2017
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
Journal: Clinical genetics
Published: July 26, 2017
Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.
Journal: American journal of medical genetics. Part A
Published: August 29, 2013
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Last Updated: 09/26/2026