Faculty profile

Melanie Lacaria

ResearcherInstitute for Stem Cell ResearchUniversity of Ottawa

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of Ottawa directory, so their courses and email address may be missing. Find their university profile.

Melanie Lacaria

Researcher

Institute for Stem Cell Research

Health Sciences

University of Ottawa

Ottawa, Ontario, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
8 publications in the last five years, latest in 2026.
Principal investigator on 1 research grant (1 CIHR), most recently in 2013.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

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Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

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Signals and details

Research

Ethics Genetics Health Sequencing Technology

Latest papers

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.
Molecular genetics and metabolism · 2026 · first author
Reprint of : First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.
Parkinsonism & related disorders · 2025
First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.
Parkinsonism & related disorders · 2025

All 11 publications

Latest funding

Genomics and Personalized Medicine: Challenges and Promises for Health Care
CIHR · 2013 · Nominated PI
$3,000

All 1 grants and awards

11 publications.

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Lacaria M, Goldstein JL, Aschoff C, Brown K, Deshpande D, Chen-Deutsch X, Ellinwood M, Farman MR, Mendez R, Louis IV, Prout J, Roark K, Selvanathan A, Stafford A, Fernandez R, Ratzsch AC, Weaver M, Bali D, Donti T, Lund T, Pollard L, Vairo FPE, Wood T, Rehder C, Clarke L

Molecular genetics and metabolism2026First author

DOI: 10.1016/j.ymgme.2026.110156 PMID: 42190545

Reprint of : First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

Villa-Lopez M, MacPherson MJ, Maire G, Yoshimoto M, Lacaria M, Suchowersky O

Parkinsonism & related disorders2025

DOI: 10.1016/j.parkreldis.2025.108101 PMID: 41198475

First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

Villa-Lopez M, MacPherson MJ, Maire G, Yoshimoto M, Lacaria M, Suchowersky O

Parkinsonism & related disorders2025

DOI: 10.1016/j.parkreldis.2025.107900 PMID: 40537356

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.

Kernohan KD, Gallagher L, Pigeon M, Yeh E, Lacaria M, Axford MM, MacCormick J, Papaioannou V, Quercia N, Rupar C, Zimmerman K, Weber S, Cushing SL, Chakraborty P

Genetics in medicine : official journal of the American College of Medical Genetics2025

DOI: 10.1016/j.gim.2025.101364 PMID: 39846246

Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program

Dunn JKE, Chakraborty P, Reuvers E, Gallagher L, Kernohan KD, Lacaria M, Barton M, Leifso K, Pernica JM, Santander E

JAMA pediatrics202537 citationsOpen Access

DOI: 10.1001/jamapediatrics.2024.5562 PMID: W4406666567

Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.

Goh ES, Chad L, Richer J, Bombard Y, Mighton C, Agatep R, Lacaria M, Penny B, Thomas MA, Zawati MH, MacFarlane J, Laberge AM, Nelson TN

Journal of medical genetics2024

DOI: 10.1136/jmg-2024-110330 PMID: 39362754

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

Marshall AE, Brady L, Yeh E, Mears AJ, Lacaria M, Chakraborty P, Tarnopolsky MA, Kernohan KD

American Journal of Medical Genetics, Part A2024

DOI: 10.1002/ajmg.a.63590

Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year

Kernohan KD, McMillan HJ, Yeh E, Lacaria M, Kowalski M, Campbell C, Dowling JJ, Gonorazky H, Marcadier J, Tarnopolsky MA

Canadian Journal of Neurological Sciences202218 citationsOpen Access

DOI: 10.1017/cjn.2021.231 PMID: W3202953582

The Dystrophin Glycoprotein Complex Regulates the Epigenetic Activation of Muscle Stem Cell Commitment.

Chang NC, Sincennes MC, Chevalier FP, Brun CE, Lacaria M, Segalés J, Muñoz-Cánoves P, Ming H, Rudnicki MA

Cell stem cell2018

DOI: 10.1016/j.stem.2018.03.022 PMID: 29681515

A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion.

Lacaria M, El Demellawy D, McGowan-Jordan J

Cancer genetics2017First author

DOI: 10.1016/j.cancergen.2017.07.011 PMID: 29025583

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Melanie Lacaria

Research

Latest papers

Latest funding

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Reprint of : First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.

Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program

Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.

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

Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year

The Dystrophin Glycoprotein Complex Regulates the Epigenetic Activation of Muscle Stem Cell Commitment.

A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion.

Genomics and Personalized Medicine: Challenges and Promises for Health Care

Frequent collaborators

Pranesh Chakraborty

Mark Tarnopolsky

Jean McGowan-Jordan

Yvonne Bombard

Lauren Chad

Dina El Demellawy

Craig Campbell

Soren Gantt

Jeffrey (Des) Pernica

Anne-Marie Laberge

Jason Brophy

Melanie Lacaria

Research

Latest papers

Latest funding

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Reprint of : First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3&#xa0;years.

Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program

Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing.

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

Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year

The Dystrophin Glycoprotein Complex Regulates the Epigenetic Activation of Muscle Stem Cell Commitment.

A rare case of pediatric lipoma with t(9;12)(p22;q14) and evidence of HMGA2-NFIB gene fusion.

Genomics and Personalized Medicine: Challenges and Promises for Health Care

Frequent collaborators

Pranesh Chakraborty

Mark Tarnopolsky

Jean McGowan-Jordan

Yvonne Bombard

Lauren Chad

Dina El Demellawy

Craig Campbell

Soren Gantt

Jeffrey (Des) Pernica

Anne-Marie Laberge

Jason Brophy

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years.