Leora Witkowski

Leora Witkowski

McGill University

H-index: 25

North America-Canada

About Leora Witkowski

Leora Witkowski, With an exceptional h-index of 25 and a recent h-index of 23 (since 2020), a distinguished researcher at McGill University, specializes in the field of genetics.

His recent articles reflect a diverse array of research interests and contributions to the field:

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

P116: A clinical algorithm to guide mainstreaming in pediatric oncology in Quebec

EP358/# 615 Methylation profiling identifies two distinct clusters of small cell carcinoma of the ovary hypercalcemic type (SCCOHT)

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

Unusual aspects of small cell carcinoma of the ovary of Hypercalcaemic type: retained SMARCA4 immunohistochemical staining and positive staining with TLE1

Germline pathogenic SMARCA4 variants in neuroblastoma

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

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

Leora Witkowski Information

University

Position

Harvard Medical School

Citations(all)

2567

Citations(since 2020)

1972

Cited By

1316

hIndex(all)

25

hIndex(since 2020)

23

i10Index(all)

35

i10Index(since 2020)

32

Email

University Profile Page

Google Scholar

Leora Witkowski Skills & Research Interests

genetics

Top articles of Leora Witkowski

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

Genes, Chromosomes and Cancer

2024/2

P116: A clinical algorithm to guide mainstreaming in pediatric oncology in Quebec

Genetics in Medicine Open

2024/1/1

EP358/# 615 Methylation profiling identifies two distinct clusters of small cell carcinoma of the ovary hypercalcemic type (SCCOHT)

2023/11/1

Leora Witkowski
Leora Witkowski

H-Index: 18

Cheng-Han Lee
Cheng-Han Lee

H-Index: 3

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

2023/11

Leora Witkowski
Leora Witkowski

H-Index: 18

Unusual aspects of small cell carcinoma of the ovary of Hypercalcaemic type: retained SMARCA4 immunohistochemical staining and positive staining with TLE1

The American Journal of Surgical Pathology

2023/11/1

Leora Witkowski
Leora Witkowski

H-Index: 18

Germline pathogenic SMARCA4 variants in neuroblastoma

Journal of Medical Genetics

2023/10/1

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

NAR cancer

2023/9/1

Leora Witkowski
Leora Witkowski

H-Index: 18

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

Human mutation

2023/3/29

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

Cancer Treatment and Research Communications

2023/1/1

P587: Leveraging extensive datasets to better classify SMARCA4 variants

Genetics in Medicine Open

2023/1/1

Leora Witkowski
Leora Witkowski

H-Index: 18

Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer

bioRxiv

2021/1/1

Association of pathogenic variants in hereditary cancer genes with multiple diseases

JAMA oncology

2022/6/1

Cellular context determines DNA methylation profiles in SWI/SNF‐deficient cancers of the gynecologic tract

The Journal of Pathology

2022/6

Leora Witkowski
Leora Witkowski

H-Index: 18

Martin Köbel
Martin Köbel

H-Index: 48

Performance of the McGill interactive pediatric oncogenetic guidelines for identifying cancer predisposition syndromes

JAMA oncology

2021/12/1

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

Nature Communications

2021/9/13

A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

medRxiv

2021/3/24

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Human mutation

2021/3

Leora Witkowski
Leora Witkowski

H-Index: 18

Liying Zhang
Liying Zhang

H-Index: 33

Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations—is the term …

Virchows Archiv

2020/12

Detection of pathogenic variants with germline genetic testing using deep learning vs standard methods in patients with prostate cancer and melanoma

Jama

2020/11/17

Frequency of genomic secondary findings among 21,915 eMERGE network participants

Genetics in Medicine

2020/9/1

See List of Professors in Leora Witkowski University(McGill University)