Jessie M. Cameron
Toronto, ON, Canada
Last Updated: 09/26/2026
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Found 23 publications
Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.
Journal: American journal of medical genetics. Part A
Published: June 06, 2025
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Journal: Genome medicine
Published: December 21, 2024
Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
Journal: Journal of medical genetics
Published: October 03, 2024
Primary Hyperoxaluria Screening and Monitoring: Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity.
Journal: Annals of laboratory medicine
Published: April 27, 2023
ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.
Journal: Genetics in medicine open
Published: March 04, 2023
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 08, 2022
Effect of rapamycin on mitochondria and lysosomes in fibroblasts from patients with mtDNA mutations.
Effect of rapamycin on mitochondria and lysosomes in fibroblasts from patients with mtDNA mutations.
Journal: American journal of physiology. Cell physiology
Published: June 09, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 28, 2021
Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
Journal: PloS one
Published: January 12, 2021
Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse.
Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: January 03, 2020
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Journal: Human molecular genetics
Published: September 12, 2018
Last Updated: 09/26/2026