Publications by authors named "Jessie Cameron"

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Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.
Zainab Al Masseri, Laura Guilder, Michal Inbar-Feigenberg, Jessie Cameron, Siddika Venkatachalam

Am J Med Genet A· January 2026

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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Jamie C Stark, Neta Pipko, Yijing Liang, Anna Szuto, Chung Ting Tsoi, Jessie Cameron

Genome Med· July 2025

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Homozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
Rachel Youjin Oh, Michael Maier, Susan Blaser, Jessie Cameron, Cynthia Hawkins

J Med Genet· February 2025

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Primary Hyperoxaluria Screening and Monitoring: Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity.
Mehrdad Yazdanpanah, Jessie Cameron, Chandra Chappel, Libin Yuan

Ann Lab Med· May 2024

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ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics.
Jessie M Cameron, Mayowa Azeez Osundiji, Rory J Olson, Bukola A Olarewaju, Andreas Schulze

Genet Med Open· January 2024

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Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.
Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha

HGG Adv· April 2023

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, Matthew Edwards, Loïc de Pontual, Jessie Cameron

Genet Med· April 2022

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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Anne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, Matthew Edwards, Loïc de Pontual, Jessie Cameron

Genet Med· December 2021

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Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
Anastasia Minenkova, Erwin E W Jansen, Jessie Cameron, Rob Barto, Thomas Hurd

PLoS One· November 2021

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Effect of rapamycin on mitochondria and lysosomes in fibroblasts from patients with mtDNA mutations.
Nashwa J Cheema, Jessie M Cameron, David A Hood

Am J Physiol Cell Physiol· July 2021

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Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse.
Lindsay S Cahill, Jessie M Cameron, Julie Winterburn, Patrick Macos, Johnathan Hoggarth

J Neurosci· June 2020

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Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Graeme A M Nimmo, Sundararajan Venkatesh, Ashutosh K Pandey, Christian R Marshall, Lili-Naz Hazrati, Jessie Cameron

Hum Mol Genet· January 2019

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Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ deficiency.
Neal Sondheimer, Stacy Hewson, Jessie M Cameron, Gino R Somers, Jane Dunning Broadbent

Mol Genet Metab Rep· September 2017

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Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.
Jessie M Cameron, Valeriy Levandovskiy, Wendy Roberts, Evdokia Anagnostou, Stephen Scherer

Int J Mol Sci· July 2017

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Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Päivi Vieira, Jessie Cameron, Elisa Rahikkala, Riikka Keski-Filppula, Lin-Hua Zhang

Mol Genet Metab· April 2017

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Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Jessie Cameron

N Engl J Med· June 2016

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Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.
Saikat Santra, Jessie M Cameron, Casper Shyr, Linhua Zhang, Britt Drögemöller

Mol Genet Metab· May 2016

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Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.
Andreas Schulze, Margaret Bauman, Anne Chun-Hui Tsai, Ann Reynolds, Wendy Roberts, Jessie Cameron

Pediatrics· January 2016

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Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.
Jessie M Cameron, Nevena MacKay, Annette Feigenbaum, Mark Tarnopolsky, Susan Blaser

Eur J Paediatr Neurol· September 2015

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Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.
Karen Vernau, Eleonora Napoli, Sarah Wong, Catherine Ross-Inta, Jessie Cameron

Brain Pathol· July 2015

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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R Baker, Marisa W Friederich, Michael A Swanson, Tamim Shaikh, Kaustuv Bhattacharya, Jessie M Cameron

Brain· February 2014

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Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.
Karen M Vernau, Jonathan A Runstadler, Emily A Brown, Jessie M Cameron, Heather J Huson, Cameron Ackerley

PLoS One· August 2013

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Complex II deficiency--a case report and review of the literature.
Shailly Jain-Ghai, Jessie M Cameron, Almundher Al Maawali, Susan Blaser, Nevena MacKay

Am J Med Genet A· February 2013

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Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
Komudi Siriwardena, Nevena Mackay, Valeriy Levandovskiy, Susan Blaser, Julian Raiman, Cameron Ackerley, Jessie M Cameron

Mol Genet Metab· January 2013

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Inhibition of mitochondrial translation as a therapeutic strategy for human acute myeloid leukemia.
Marko Skrtić, Shrivani Sriskanthadevan, Bozhena Jhas, Marinella Gebbia, Xiaoming Wang, Jessie H Cameron

Cancer Cell· November 2011

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