Publications by authors named "M Axford"

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Michelle M Axford

J Clin Invest· November 2025

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Genomic regions affecting perinatal and early life survival in dairy calves.
M M Axford, M Khansefid, I M MacLeod, T V Nguyen, I van den Berg

J Dairy Sci· November 2025

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Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.
Kristin D Kernohan, Lauren Gallagher, Marie Pigeon, Ed Yeh, Melanie Lacaria, Michelle M Axford

Genet Med· October 2025

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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
David Cheerie, Marlen C Lauffer, Logan Newton, Kimberly Amburgey, Danique Beijer, Michelle M Axford

Genet Med· October 2025

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Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board.
Amy Y Pan, Kenzie Pulsifer, Michelle M Axford, Lena Dolman, Bailey Gallinger

Paediatr Child Health· September 2025

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