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Leora Witkowski

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Assistant ProfessorDepartment of Human GeneticsMcGill University

Leora Witkowski

Assistant Professor

Department of Human Genetics

Faculty of Medicine and Health Sciences

McGill University

Montreal, Quebec, Canada

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

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Publications

1,831

Citations

Collaborators

Grants

Publications by year

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Research

Read how they describe their research on their McGill University profile.

Latest papers

Asynchronous Contralateral Primaries of Small Cell Carcinoma of the Ovary, Hypercalcemic Type in Germline SMARCA4 Pathogenic Variant Carriers.
JCO precision oncology · 2026
SMARCA4 Loss Increases RNA Polymerase II Pausing and Elevates R-Loops to Inhibit BRCA1-Mediated Repair in Ovarian Cancer.
Cancer research · 2025
Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
Genetics in Medicine · 2024

All 36 publications

Latest funding

Leveraging precision medicine and eHealth to predict cancer predisposition syndromes in children: A Canadian initiative to redress global health disparities in cancer genetics
CIHR · 2023 · Co-investigator
$703,800

All 1 grants and awards

36 publications.

Asynchronous Contralateral Primaries of Small Cell Carcinoma of the Ovary, Hypercalcemic Type in Germline SMARCA4 Pathogenic Variant Carriers.

Kong BL, Johnson BE, Egger J, Stommel JM, Creason AL, Campbell S, Krieg AJ, Mills GB, Pejovic TB, Fahiminiya S, McCluggage WG, Ahmed A, Hamel N, Witkowski L, Pavlakis K, Foulkes WD, SMMART Clinical Trials Program

JCO precision oncology2026

DOI: 10.1200/po-25-00937 PMID: 42258783

SMARCA4 Loss Increases RNA Polymerase II Pausing and Elevates R-Loops to Inhibit BRCA1-Mediated Repair in Ovarian Cancer.

Zhu X, Fu Z, Aceto G, St-Germain J, Liu K, Arabzadeh A, Qi Y, Xue Y, Witkowski L, Graulich E, Steinberger J, Misirlioglu S, Bassani N, Sansal R, Yasmeen A, Morin G, Guo J, Monast A, Pilon V, Valachová A, Pavlakis K, Fu L, Gotlieb WH, McCluggage WG, Huntsman D, Bishop AJR, Levine DA, Park M, Wang Y, Raught B, Foulkes WD, Huang S

Cancer research20258 citations

DOI: 10.1158/0008-5472.can-24-3990 PMID: 40366633

Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

Isaac Wade, Leora Witkowski, Afrida Ahmed, Charlie F Rowlands, Susana Banerjee, Joseph G. Pressey, Terri Patricia McVeigh, Marc D. Tischkowitz, William David Foulkes, Clare Turnbull

Genetics in Medicine20248 citationsOpen Access

DOI: 10.1016/j.gim.2024.101287 PMID: 39367739

Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome.

Freycon C, Palma L, Budd C, Coulombe F, Witkowski L, Hainaut P, Foulkes WD, Goudie C

Familial cancer20246 citations

DOI: 10.1007/s10689-024-00419-7 PMID: 39261343

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.

Ouchene L, Wilde B, Chan-Pak-Choon F, Camacho Valenzuela J, Brimo F, Witkowski L, Christofk H, Domecq C, Fu L, Weber E, Lemieux Anglin B, Netchiporouk E, Foulkes WD

Genes, chromosomes & cancer20245 citationsOpen Access

DOI: 10.1002/gcc.23221 PMID: 38682608

Germline pathogenic SMARCA4 variants in neuroblastoma

Leora Witkowski, Kim E. Nichols, Marjolijn C.J. Jongmans, Nienke van Engelen, Ronald R. de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L. Davidson, Thomas E. Robertson, Michael J. Anderson, Martin Hasselblatt, Sharon E. Plon, William David Foulkes

Journal of Medical Genetics202320 citationsFirst authorOpen Access

DOI: 10.1136/jmg-2022-108854 PMID: 36813544

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

Jessica N. Hatton, Megan N. Frone, Hannah C. Cox, Stephanie B. Crowley, Susan C. Hiraki, Noriko N. Yokoyama, Noura S. Abul‐Husn, James F. Amatruda, Michael J. Anderson, Xavier Bofill‐De Ros, Ann Garrity Carr, Elizabeth Chao, Kenneth Sung-Man Chen, Shuo Gu, Cecilia P. Higgs, Jerry Machado, Deborah Ritter, Kris Ann P. Schultz, Emily R. Soper, Mona K. Wu, Jessica L. Mester, Jung Kim, William David Foulkes, Leora Witkowski, Douglas R. Stewart

Human Mutation202317 citationsOpen Access

DOI: 10.1155/2023/9537832 PMID: 38084291

Unusual Aspects of Small Cell Carcinoma of the Ovary of Hypercalcaemic Type

Jasenka Mazibrada, Nishani Jayatunge, Céline Domecq, Leora Witkowski, Sabrina Croce, William David Foulkes, W. Glenn McCluggage

The American Journal of Surgical Pathology202314 citations

DOI: 10.1097/pas.0000000000002088 PMID: 37345679

Next-generation sequencing of non-small cell lung cancer at a Quebec health care cancer centre.

Sorin M, Camilleri-Broët S, Pichette E, Lorange JP, Haghandish N, Dubé LR, Lametti A, Huynh C, Witkowski L, Zogopoulos G, Wang Y, Wang H, Spicer J, Walsh LA, Rayes R, Rouleau G, Spatz A, Corredor ALG, Fiset PO

Cancer treatment and research communications20237 citationsOpen Access

DOI: 10.1016/j.ctarc.2023.100696 PMID: 36958133

DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility

Dylan Pelletier, Anne‐Laure Chong, Mona K. Wu, Leora Witkowski, Sophie Albert, Nelly Sabbaghian, Marc Robert Fabian, William David Foulkes

NAR Cancer20234 citationsOpen Access

DOI: 10.1093/narcan/zcad030 PMID: 37333613

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

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Leora Witkowski

Research

Latest papers

Latest funding

Asynchronous Contralateral Primaries of Small Cell Carcinoma of the Ovary, Hypercalcemic Type in Germline SMARCA4 Pathogenic Variant Carriers.

SMARCA4 Loss Increases RNA Polymerase II Pausing and Elevates R-Loops to Inhibit BRCA1-Mediated Repair in Ovarian Cancer.

Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome.

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.

Germline pathogenic SMARCA4 variants in neuroblastoma

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

Unusual Aspects of Small Cell Carcinoma of the Ovary of Hypercalcaemic Type

Next-generation sequencing of non-small cell lung cancer at a Quebec health care cancer centre.

DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility

Leveraging precision medicine and eHealth to predict cancer predisposition syndromes in children: A Canadian initiative to redress global health disparities in cancer genetics

Frequent collaborators

William Foulkes

Catherine Goudie

Sidong Huang

David Huntsman

Jacek Majewski

Morag Park

Pierre Fiset

Jonathan Spicer

Janusz Rak

Michael Witcher

Lynne-Marie Postovit

Nada Jabado

David Malkin

William Lockwood

George Zogopoulos

Cheng-Han Lee

Cindy Greenwood

Kathleen Felton

Josée Dostie

Jose Teodoro

Jerry Pelletier

Albert Berghuis

Valérie Larouche

Vijay Ramaswamy

David Grynspan