Arran Mcbride

Ottawa, ON K1H8L1, Canada

Last Updated: 09/26/2026

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Found 9 publications

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.

Journal: Neurology. Genetics
Published: December 19, 2022

Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

Journal: Human molecular genetics
Published: June 17, 2021

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

Journal: American journal of human genetics
Published: October 26, 2020

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

Journal: Clinical genetics
Published: April 08, 2019

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Journal: Cell
Published: April 17, 2017

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Journal: Human mutation
Published: November 23, 2016

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.

Journal: Epigenetics & chromatin
Published: November 07, 2016

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

Journal: Human mutation
Published: October 14, 2016

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Journal: Clinical genetics
Published: September 14, 2016
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Last Updated: 09/26/2026