Aren Elizabeth Marshall

8PUBLICATIONS
29CO-AUTHORS
Neurology and neuromuscular diseasesCell and nuclear divisionDevelopmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)
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Publications (8)

|Nov 12, 2025
MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Lola Er Lessard, Danielle K Bourque, Pierre J Bourque

|Mar 13, 2024
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.

Aren E Marshall, Lauren Brady, Ed Yeh

|Jan 18, 2024
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.

Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall

|Dec 22, 2023
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

Giulia F Del Gobbo, Xueqi Wang, Madeline Couse

|Dec 05, 2023
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.

Aren E Marshall, Gabrielle Lemire, Yijing Liang

|Oct 31, 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.

Aren E Marshall, Yijing Liang, Madeline Couse

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Frequent Collaborators

4 joint publications

Kym M Boycott

2 joint publications

Ari Breiner

2 joint publications

Jodi Warman-Chardon

2 joint publications

Hanns Lochmüller