Leora Witkowski

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 48 publications

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

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

Journal: JCO precision oncology

Published: June 08, 2026

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

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

Journal: Cancer research

Published: October 25, 2024

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

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

Journal: Familial cancer

Published: June 05, 2024

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

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

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

Published: May 15, 2024

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

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

Journal: Human mutation

Published: December 12, 2023

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

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

Journal: Genes, chromosomes & cancer

Published: October 25, 2023

A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma.

A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma.

Journal: Pediatric blood & cancer

Published: July 05, 2023

Unusual Aspects of Small Cell Carcinoma of the Ovary of Hypercalcaemic Type: Retained SMARCA4 Immunohistochemical Staining and Positive Staining With TLE1.

Unusual Aspects of Small Cell Carcinoma of the Ovary of Hypercalcaemic Type: Retained SMARCA4 Immunohistochemical Staining and Positive Staining With TLE1.

Journal: The American journal of surgical pathology

Published: June 22, 2023

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

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

Journal: NAR cancer

Published: March 23, 2023

Author Correction: SMARCA4/2 loss inhibits chemotherapy-induced apoptosis by restricting IP3R3-mediated Ca2+ flux to mitochondria.

Author Correction: SMARCA4/2 loss inhibits chemotherapy-induced apoptosis by restricting IP3R3-mediated Ca2+ flux to mitochondria.

Journal: Nature communications

Published: March 22, 2023

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

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

Journal: Cancer treatment and research communications

Published: January 26, 2023

Germline pathogenic SMARCA4 variants in neuroblastoma.

Germline pathogenic SMARCA4 variants in neuroblastoma.

Journal: Journal of medical genetics

Published: July 28, 2022

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Last Updated: 09/26/2026