Last Updated: 09/26/2026
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Found 24 publications
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Journal: Annals of neurology
Published: March 16, 2025
Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype-Phenotype Correlation.
Journal: American journal of medical genetics. Part A
Published: November 20, 2024
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.
Journal: American journal of human genetics
Published: November 19, 2024
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series.
Journal: Molecular genetics and metabolism reports
Published: August 26, 2024
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Journal: Brain : a journal of neurology
Published: November 02, 2022
Natural history of propionic acidemia in the Amish population.
Journal: Molecular genetics and metabolism reports
Published: July 13, 2022
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 23, 2021
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Journal: NPJ genomic medicine
Published: July 02, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 20, 2021
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Journal: PLoS genetics
Published: June 14, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Journal: Brain : a journal of neurology
Published: January 26, 2021
Last Updated: 09/26/2026