Anne Griffin

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

Last Updated: 09/26/2026

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Found 11 publications

Heterozygous Nonsense Mutation in the Nuclear Transport Factor KPNA7, a Maternal Factor Active in Embryonic Tissues, Causes Autosomal Dominant Otosclerosis.

Heterozygous Nonsense Mutation in the Nuclear Transport Factor KPNA7, a Maternal Factor Active in Embryonic Tissues, Causes Autosomal Dominant Otosclerosis.

Journal: International journal of molecular sciences

Published: March 26, 2026

Embodying hearing loss: confronting the issue and adjusting to a new norm.

Embodying hearing loss: confronting the issue and adjusting to a new norm.

Journal: International journal of audiology

Published: September 29, 2025

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

"Something is just not right with my hearing": early experiences of adults living with hearing loss.

"Something is just not right with my hearing": early experiences of adults living with hearing loss.

Journal: International journal of audiology

Published: October 06, 2021

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

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

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

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

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.

Journal: American journal of audiology

Published: April 02, 2014

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