Celine Garrec

Nantes, France

Last Updated: 09/26/2026

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Found 26 publications

Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

Journal: NPJ genomic medicine

Published: September 02, 2025

Cancer risks for ATM variant heterozygotes.

Cancer risks for ATM variant heterozygotes.

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

Published: September 01, 2025

Identification of Hepatic-like EPO as a Cause of Polycythemia.

Identification of Hepatic-like EPO as a Cause of Polycythemia.

Journal: The New England journal of medicine

Published: April 30, 2025

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript.

Journal: NPJ genomic medicine

Published: February 14, 2025

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.

Journal: International journal of cancer

Published: September 26, 2024

Deep Learning for Detecting BRCA Mutations in High-Grade Ovarian Cancer Based on an Innovative Tumor Segmentation Method From Whole Slide Images.

Deep Learning for Detecting BRCA Mutations in High-Grade Ovarian Cancer Based on an Innovative Tumor Segmentation Method From Whole Slide Images.

Journal: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

Published: March 31, 2023

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Journal: Genes

Published: March 03, 2023

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.

Journal: Haematologica

Published: February 10, 2023

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.

Journal: Haematologica

Published: September 01, 2022

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Journal: American journal of human genetics

Published: June 15, 2021

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Journal: Cancers

Published: June 08, 2021

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

Journal: Familial cancer

Published: May 03, 2021

Showing 1-12 of 26

Last Updated: 09/26/2026