Cindy Penney

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

S. Stanton, T. Young, D. O’Rielly, 2016, Human Genetics.

Investigation of the genetic cause of hearing loss in Newfoundland families

Cindy Penney, 2018 .

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

P. Hu, S. Agrawal, T. Young, 2021, Human genetics.

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

T. Young, D. O’Rielly, Jane S Green, 2019, Molecular genetics & genomic medicine.

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Daniel Vincent, F. Glaser, S. Stanton, 2022, Human Genetics.

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

Daniel Vincent, S. Stanton, O. Barel, 2021 .

Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses

Daniel Vincent, S. Stanton, T. Young, 2023, European Journal of Human Genetics.