Natalie Jones

Bordeaux, France

Last Updated: 09/26/2026

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Found 14 publications

Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

Journal: Familial cancer

Published: November 10, 2024

Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Classification of PTEN germline non-truncating variants: a new approach to interpretation.

Journal: Journal of medical genetics

Published: March 11, 2024

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.

Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.

Journal: BMC medical genomics

Published: December 14, 2022

PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.

PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.

Journal: Cancer genetics

Published: October 19, 2021

Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.

Increased incidence of pathogenic variants in ATM in the context of testing for breast and ovarian cancer predisposition.

Journal: Journal of human genetics

Published: July 02, 2021

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

Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies.

Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies.

Journal: Case reports in dentistry

Published: June 18, 2020

Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.

Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.

Journal: Genes, chromosomes & cancer

Published: October 14, 2016

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.

Journal: European journal of human genetics : EJHG

Published: June 14, 2016

Human Adipose-Derived Stem Cells Expanded Under Ambient Oxygen Concentration Accumulate Oxidative DNA Lesions and Experience Procarcinogenic DNA Replication Stress.

Human Adipose-Derived Stem Cells Expanded Under Ambient Oxygen Concentration Accumulate Oxidative DNA Lesions and Experience Procarcinogenic DNA Replication Stress.

Journal: Stem cells translational medicine

Published: December 16, 2015

Should knowledge of BRCA1 status impact the choice of chemotherapy in metastatic breast cancer: a review

Should knowledge of BRCA1 status impact the choice of chemotherapy in metastatic breast cancer: a review

Journal: Bulletin du cancer

Published: October 08, 2014

Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.

Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.

Journal: PloS one

Published: August 22, 2012

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Last Updated: 09/26/2026