Faculty profile

Oksana Suchowersky

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ProfessorMedical Genetics DeptUniversity of Alberta

Oksana Suchowersky

Professor

Medical Genetics Dept

Faculty of Medicine & Dentistry

University of Alberta

Edmonton, Alberta, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
24 publications in the last five years, latest in 2026.
Senior (last) author on 5 recent papers, a sign of leading a research group.

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

Academic metrics

Publications

1,137

Citations

Collaborators

Grants

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

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Signals and details

Research

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

Latest papers

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Movement Disorders · 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance
Neurogenetics · 2026
A MORC2 Variant Associated With Severe Intellectual Disability and Unusual Phenotype.
American journal of medical genetics. Part A · 2026

All 53 publications

Latest funding

Gangliosides in Huntington’s disease: from bench to clinics and back
BRAIN · 2016 · Co-investigator
$950,000
Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes.
CIHR · 2011 · Co-investigator
$2,498,718
CIHR Training Program in Genetics, Child Development and Health
CIHR · 2008 · Co-investigator
$1,950,000

All 3 grants and awards

53 publications.

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Zhu R, Liu L, Estiar MA, Asayesh F, Ahmad J, Teferra M, Yoon G, Tarnopolsky M, Boycott KM, Dupre N

Movement Disorders2026Open Access

DOI: 10.1002/mds.70144

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance

E. Gillesse, Miranda Mengyuan Wan, Setareh Ashtiani, Oksana Suchowersky, Jillian S. Parboosingh, Francois P Bernier, Ryan E. Lamont, A Micheil Innes, PY Billie Au

Neurogenetics2026Open Access

DOI: 10.1007/s10048-026-00882-7 PMID: 41656397

A MORC2 Variant Associated With Severe Intellectual Disability and Unusual Phenotype.

Wilton-Clark H, Kämpjärvi K, Suchowersky O, Jain-Ghai S

American journal of medical genetics. Part A2026

DOI: 10.1002/ajmg.a.70307 PMID: 42779294

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

Estiar MA, Yu E, Varghaei P, Ross JP, Ashtiani S, Bayne AN, Coarelli G, Timmann D, Klockgether T, Beijer D, Mengel D, Coutelier M, Project MinE ALS Sequencing Consortium, Dion PA, Suchowersky O, Ewenczyk C, Goizet C, Stevanin G, Van Damme P, Al-Chalabi A, Zuchner S, Synofzik M, Veldink JH, Trempe JF, Durr A, Rouleau GA, Gan-Or Z

BMC medicine2026

DOI: 10.1186/s12916-026-04805-z PMID: 41877227

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights.

Kang C, Rajalingam R, Walls Z, Huang J, Sun C, Rudaks LI, Yeow D, Rasheed A, Zhang JW, Hamed M, Breza M, Schaake S, Vekhande C, Massa J, Massa RE, Shetty A, Sue CM, Cambi F, Suchowersky O, Vulinovic F, Petkovic S, Klein C, Lohmann K, Marras C, Kumar KR

Movement disorders clinical practice2026

DOI: 10.1002/mdc3.70559 PMID: 41734945

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

Lucia Laugwitz, Rebecca Buchert, Patricio Olguı́n, Mehrdad Asghari Estiar, Mihaela Atanasova, Wilson Marques, Jörg Enssle, B. G. Marsden, Javiera Avilés, Andrés González‐Gutiérrez, Noemí Candia, Marietta Fabiano, Susanne Morlot, Susana Martínez Peralta, Alisa Groh, Carmen Schillinger, Claudia Kuehn, Linda Sofan, Marc Sturm, Benjamin Bender, Pedro José Tomaselli, Uta Diebold, Amelie J. Mueller, Stephanie Spranger, Maren Fuchs, Fernando Freua, Uirá Souto Melo, Lauren Mattas, Setareh Ashtiani, Oksana Suchowersky, et al. (50 authors)

The American Journal of Human Genetics20257 citationsOpen Access

DOI: 10.1016/j.ajhg.2024.12.001 PMID: 39753114

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

Hengel H, Hannan SB, Reich S, Beijer D, Roller J, Gilsbach BK, Gloeckner CJ, Greene D, Timmann D, Depienne C, Mumford A, O'Driscoll M, Nemeth AH, Lundberg J, Rodan LH, Bruel AL, Delanne J, Deconinck T, Baets J, Gan-Or Z, Rouleau G, Suchowersky O, Estiar MA, Reich S, Toro C, Züchner S, Hazan J, Pétursson H, Harmuth F, Bauer C, Bauer P, Turro E, Lambright D, Schöls L, Synofzik M

Brain : a journal of neurology20257 citationsOpen Access

DOI: 10.1093/brain/awaf111 PMID: 40166812

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

Cuillerier A, Del Gobbo GF, Mackay L, Wall E, Couse M, McDonell LM, Cloutier M, Danzi MC, Warman-Chardon J, Bourque PR, Suchowersky O, Mears A, Seldenthuis L, Mears W, Larrigan L, White-Brown A, Pfeffer G, Bulman DE, Dyment D, Care4Rare Canada Consortium, Boycott KM

Annals of clinical and translational neurology20255 citationsOpen Access

DOI: 10.1002/acn3.70016 PMID: 40191983

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population.

Assaedi E, Ashtiani S, Estiar MA, Gan-Or Z, McKenzie ED, Shetty A, Rouleau G, Suchowersky O

Movement disorders clinical practice20251 citationsSenior authorOpen Access

DOI: 10.1002/mdc3.70115 PMID: 40322871

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 disorders20251 citationsSenior authorOpen Access

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

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

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Oksana Suchowersky

Research

Latest papers

Latest funding

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance

A MORC2 Variant Associated With Severe Intellectual Disability and Unusual Phenotype.

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights.

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.

FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population.

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

Gangliosides in Huntington’s disease: from bench to clinics and back

Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes.

CIHR Training Program in Genetics, Child Development and Health

Frequent collaborators

Guy Rouleau

Ziv Gan-Or

Grace Yoon

Kym Boycott

Mark Tarnopolsky

Bernard Brais

Adriana Lazarescu

Silke Appel-Cresswell

Jean-François Trempe

Susan Fox

Scott Kraft

Sarah Furtado

Lily Zhou

Jacek Majewski

Antoine Duquette

Fang Ba

David Dyment

Gerald Pfeffer

Tejas Sankar

Melanie Lacaria

Jillian Parboosingh

Jodi Warman Chardon

Tiago Mestre

Elizabeth Slow

Katayoun Alikhani

Oana Caluseriu

Mateusz Zurowski