Jean-francois P. Soucy

Montreal, QC H3T1C5, Canada

Last Updated: 09/26/2026

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Found 27 publications

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.

Journal: International journal of neonatal screening

Published: September 05, 2025

Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study.

Clinical and Genetic Characterization of 8 Patients with Syndromic Patterned Cutaneous Hypopigmentation: A Descriptive Study.

Journal: Journal of cutaneous medicine and surgery

Published: May 03, 2025

Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10-Related Neurodevelopmental Disorder.

Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of EMC10-Related Neurodevelopmental Disorder.

Journal: Clinical genetics

Published: November 23, 2024

Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant.

Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant.

Journal: Cureus

Published: April 27, 2024

The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.

The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.

Journal: Molecular genetics and metabolism

Published: December 20, 2023

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

Journal: Journal of child neurology

Published: May 24, 2023

Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma.

Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma.

Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

Published: April 17, 2023

A person with frontotemporal dementia shows increased metabolic rate across multiple brain regions after a series of tDCS sessions.

A person with frontotemporal dementia shows increased metabolic rate across multiple brain regions after a series of tDCS sessions.

Journal: Brain stimulation

Published: January 19, 2023

TUFM variants lead to white matter abnormalities mimicking multiple sclerosis.

TUFM variants lead to white matter abnormalities mimicking multiple sclerosis.

Journal: European journal of neurology

Published: January 02, 2023

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.

Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: January 02, 2023

Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.

Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.

Journal: Journal of child neurology

Published: January 05, 2022

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Journal: Human genetics

Published: November 17, 2021

Showing 1-12 of 27

Last Updated: 09/26/2026