Aren E. Marshall

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 21 publications

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

Journal: American journal of human genetics

Published: January 19, 2026

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Journal: Journal of neuromuscular diseases

Published: November 12, 2025

A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis.

A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis.

Journal: American journal of medical genetics. Part A

Published: September 09, 2024

Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.

Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.

Journal: American journal of medical genetics. Part A

Published: January 03, 2024

Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

Journal: American journal of medical genetics. Part A

Published: October 20, 2023

RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.

RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.

Journal: American journal of medical genetics. Part A

Published: August 24, 2023

Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.

Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.

Journal: Journal of human genetics

Published: August 08, 2023

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

Journal: Molecular genetics & genomic medicine

Published: January 07, 2023

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

RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.

RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.

Journal: American journal of medical genetics. Part A

Published: November 18, 2022

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

A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome.

A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome.

Journal: American journal of medical genetics. Part A

Published: January 06, 2022

Showing 1-12 of 21

Last Updated: 09/26/2026