Francoise Charbonnier

Rouen, France

Last Updated: 09/26/2026

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Found 19 publications

Simultaneous Study of Circular RNAs and Messenger RNAs in Colorectal Cancer: The Unbalanced Fate of a Couple?

Simultaneous Study of Circular RNAs and Messenger RNAs in Colorectal Cancer: The Unbalanced Fate of a Couple?

Journal: Cancers
Published: December 29, 2025

Remote Sophrology in Congenital Heart Disease: The SOPHROCARE Randomized Controlled Trial.

Remote Sophrology in Congenital Heart Disease: The SOPHROCARE Randomized Controlled Trial.

Journal: European journal of cardiovascular nursing
Published: October 28, 2025

Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis.

Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis.

Journal: The Journal of molecular diagnostics : JMD
Published: November 15, 2024

Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.

Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.

Journal: PLoS genetics
Published: October 29, 2024

Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.

Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.

Journal: Journal of medical genetics
Published: October 21, 2024

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.

Journal: Scientific reports
Published: November 28, 2023

Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples.

Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples.

Journal: Clinical chemistry
Published: August 04, 2020

Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal: Journal of medical genetics
Published: April 01, 2020

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.

Journal: European journal of human genetics : EJHG
Published: November 22, 2019

Impact of Sophrology on cardiopulmonary fitness in teenagers and young adults with a congenital heart disease: The SOPHROCARE study rationale, design and methods.

Impact of Sophrology on cardiopulmonary fitness in teenagers and young adults with a congenital heart disease: The SOPHROCARE study rationale, design and methods.

Journal: International journal of cardiology. Heart & vasculature
Published: October 30, 2019

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: February 08, 2018

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.

Journal: European journal of human genetics : EJHG
Published: November 27, 2017
Showing 1-12 of 19

Last Updated: 09/26/2026