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Jessie Cameron

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Assistant ProfessorDepartment of Laboratory Medicine & PathobiologyUniversity of Toronto

Jessie Cameron

Assistant Professor

Department of Laboratory Medicine & Pathobiology

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

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4 publications in the last five years, latest in 2026.

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Publications

353

Citations

Collaborators

Publications by year

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Profiles and links

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Research

Read how they describe their research on their University of Toronto profile.

Latest papers

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.
American journal of medical genetics. Part A · 2026
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Genome medicine · 2025
Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
Journal of medical genetics · 2025

All 7 publications

7 publications.

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.

Al Masseri Z, Guilder L, Inbar-Feigenberg M, Cameron J, Venkatachalam S, Chitayat D

American journal of medical genetics. Part A2026

DOI: 10.1002/ajmg.a.64239 PMID: 40913360

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Stark JC, Pipko N, Liang Y, Szuto A, Tsoi CT, Dickson MA, Yuki KE, Hou H, Scholten S, Pulsifer K, Acker M, Laver M, Murthy H, Moran OM, Bonnell E, Liang N, Sidhu J, Dupuis L, Seno MMG, Care4Rare Canada Consortium, Chard M, Jobling RK, Cameron J, Chami R, Inbar-Feigenberg M, Wilson MD, Chitayat DA, Boycott KM, Kyriakopoulou L, Mendoza-Londono R, Marshall CR, Dowling JJ, Costain G, Deshwar AR

Genome medicine202512 citationsOpen Access

DOI: 10.1186/s13073-025-01494-w PMID: 40597352

Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Oh RY, Maier M, Blaser S, Cameron J, Hawkins C, Reversade B, Yoon G

Journal of medical genetics20251 citations

DOI: 10.1136/jmg-2024-110419 PMID: 39848728

Primary Hyperoxaluria Screening and Monitoring: Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity.

Yazdanpanah M, Cameron J, Chappel C, Yuan L

Annals of laboratory medicine2024

DOI: 10.3343/alm.2023.0178 PMID: 37904578

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

Minenkova A, Jansen EEW, Cameron J, Barto R, Hurd T, MacNeil L, Salomons GS, Mercimek-Andrews S

PloS one202112 citationsOpen Access

DOI: 10.1371/journal.pone.0257073 PMID: 34495967

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.

Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G

Human molecular genetics201941 citationsOpen Access

DOI: 10.1093/hmg/ddy351 PMID: 30304514

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD

The New England journal of medicine2016287 citationsOpen Access

DOI: 10.1056/nejmoa1515792 PMID: 27276562

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

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Jessie Cameron

Research

Latest papers

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.

Primary Hyperoxaluria Screening and Monitoring: Quantitative Measurement of Plasma Oxalate by Gas Chromatography-Mass Spectrometry With High Sensitivity.

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.

Exome Sequencing and the Management of Neurometabolic Disorders.

Frequent collaborators

Grace Yoon

Michal Inbar-Feigenberg

Christian Marshall

Laura Guilder

Libin Yuan

Roberto Mendoza-Londono

Lianna Kyriakopoulou

Greg Costain

David Wishart

Cynthia Hawkins

Kym Boycott

David Chitayat

Colin Ross

Clara van Karnebeek

Wyeth Wasserman

Stuart Turvey

Jan Friedman

James Dowling

Kirk Schultz

Amit Bhavsar

Maja Tarailo-Graovac

Thomas Hurd

Lili-Naz Hazrati

Britt Drögemöller

Janis Dionne

Gregory Costain

Tammie Dewan

Kathryn Selby