Melissa J. Macpherson

Edmonton, AB, Canada

Last Updated: 09/26/2026

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Found 16 publications

Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.

Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.

Journal: American journal of medical genetics. Part A

Published: June 05, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

Reprint of : First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

Reprint of : First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

Journal: Parkinsonism & related disorders

Published: November 06, 2025

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Journal: The Journal of clinical investigation

Published: September 11, 2025

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Liveborn children with trisomy 18: A scoping review.

Liveborn children with trisomy 18: A scoping review.

Journal: Journal of neonatal-perinatal medicine

Published: February 28, 2025

First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

Journal: Parkinsonism & related disorders

Published: February 17, 2025

Parental perspectives of trisomy 18: common threads of a life-limiting diagnosis.

Parental perspectives of trisomy 18: common threads of a life-limiting diagnosis.

Journal: Medical humanities

Published: January 24, 2025

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Journal: Nature communications

Published: December 18, 2024

Liveborn children with trisomy 18: A retrospective review.

Liveborn children with trisomy 18: A retrospective review.

Journal: Paediatrics & child health

Published: July 23, 2024

Physiology and Clinical Manifestations of Pathologic Cranial Suture Widening.

Physiology and Clinical Manifestations of Pathologic Cranial Suture Widening.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: June 05, 2023

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.

Journal: Genes

Published: October 01, 2022

Showing 1-12 of 16

Last Updated: 09/26/2026