Jim Houston

300 Prince Philip Drive
St. John's, NL, Canada

Last Updated: 09/26/2026

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Found 9 publications

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

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

Journal: European journal of human genetics : EJHG

Published: April 21, 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.

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.

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

Journal: Human genetics

Published: May 15, 2021

Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?

Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?

Journal: Public health genomics

Published: November 17, 2020

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.

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.

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

Journal: BMC medical genetics

Published: October 13, 2018

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

Journal: European heart journal

Published: November 20, 2012

A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.

A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.

Journal: Human mutation

Published: April 27, 2012

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.

Journal: European journal of human genetics : EJHG

Published: April 05, 2012

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Last Updated: 09/26/2026