Amandine Baurand

Dijon, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

Journal: JIMD reports

Published: January 22, 2026

Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives.

Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives.

Journal: European journal of human genetics : EJHG

Published: March 19, 2025

MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.

MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.

Journal: Human mutation

Published: November 29, 2024

Cardiogenetics and uncertainty: Evaluation of professional vulnerability in France.

Cardiogenetics and uncertainty: Evaluation of professional vulnerability in France.

Journal: European journal of medical genetics

Published: April 21, 2024

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Journal: European journal of human genetics : EJHG

Published: November 13, 2023

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.

Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.

Journal: European journal of medical genetics

Published: June 13, 2023

Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.

Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.

Journal: Cancer medicine

Published: May 02, 2023

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Journal: Oncotarget

Published: February 07, 2023

Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients.

Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients.

Journal: European journal of medical genetics

Published: September 06, 2020

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Journal: Frontiers in oncology

Published: July 01, 2018

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

Journal: European journal of medical genetics

Published: February 20, 2018

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Journal: Oncotarget

Published: March 08, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026