Michelle M. Axford

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 13 publications

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 09, 2025

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 19, 2025

Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board.

Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board.

Journal: Paediatrics & child health

Published: November 13, 2024

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 07, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation

Published: April 26, 2024

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Journal: Clinical genetics

Published: September 25, 2022

Understanding genetic variants of uncertain significance.

Understanding genetic variants of uncertain significance.

Journal: Paediatrics & child health

Published: June 15, 2021

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Journal: Journal of medical genetics

Published: January 25, 2021

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Journal: American journal of medical genetics. Part A

Published: January 30, 2019

PKD1L1-related situs inversus associated with sideroblastic anemia.

PKD1L1-related situs inversus associated with sideroblastic anemia.

Journal: Clinical genetics

Published: September 05, 2018

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Journal: Journal of medical genetics

Published: December 16, 2017

Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report.

Illuminating CNS and cognitive issues in myotonic dystrophy: Workshop report.

Journal: Neuromuscular disorders : NMD

Published: March 05, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026