Last Updated: 09/26/2026
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Found 23 publications
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.
Journal: American journal of human genetics
Published: September 26, 2025
Outcome data for non-invasive prenatal testing suggestive of an atypical sex chromosome abnormality of fetal/placental origin.
Journal: Journal of genetic counseling
Published: April 21, 2025
Case Report: Inflammatory CADASIL phenotype associated with a rare cysteine-sparing NOTCH3 variant.
Journal: Frontiers in human neuroscience
Published: January 30, 2025
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Journal: Nature medicine
Published: December 20, 2024
Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant.
Journal: Prenatal diagnosis
Published: August 30, 2023
Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman.
Journal: Frontiers in neurology
Published: September 13, 2022
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Journal: Annals of clinical and translational neurology
Published: September 08, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Journal: Clinical genetics
Published: July 14, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Journal: American journal of human genetics
Published: May 28, 2021
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Journal: International journal of neonatal screening
Published: April 28, 2021
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: January 28, 2021
Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: January 28, 2021
Last Updated: 09/26/2026