Joseph S. Leslie
Barrack Road
Exeter, ENG, United Kingdom
Exeter, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 23 publications
Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.
Journal: BMC neurology
Published: December 23, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.
Journal: American journal of human genetics
Published: July 28, 2025
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
Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.
Journal: American journal of medical genetics. Part A
Published: January 30, 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
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.
Journal: Cells
Published: April 30, 2024
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 18, 2023
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Journal: American journal of medical genetics. Part A
Published: October 11, 2023
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Journal: American journal of human genetics
Published: August 04, 2022
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Journal: Brain : a journal of neurology
Published: April 08, 2022
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Journal: Journal of medical genetics
Published: January 26, 2022
Last Updated: 09/26/2026