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Justin A. Pater

Memorial University of Newfoundland

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Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene

2021
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A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect.

2019 Molecular Genetics & Genomic Medicine
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A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

2017 Human Genetics
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Citations (12)