Justin A. Pater
St. John's, NL, Canada
Last Updated: 09/26/2026
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Found 10 publications
Unraveling haplotype errors in the DFNA33 locus.
Journal: Frontiers in genetics
Published: May 02, 2023
Mutation of foxl1 Results in Reduced Cartilage Markers in a Zebrafish Model of Otosclerosis.
Journal: Genes
Published: April 04, 2022
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Journal: Human genetics
Published: May 24, 2021
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
Journal: Human genetics
Published: May 15, 2021
Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer.
Journal: NPJ genomic medicine
Published: October 09, 2019
A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.
Journal: Molecular genetics & genomic medicine
Published: March 29, 2019
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.
Journal: European journal of human genetics : EJHG
Published: October 25, 2018
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
Journal: BMC medical genetics
Published: October 13, 2018
Integrin linked kinase regulates syncytialization of BeWo trophoblast cells.
Journal: Biology of reproduction
Published: October 11, 2016
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Journal: Human genetics
Published: August 09, 2016
Showing 1-10 of 10
Last Updated: 09/26/2026