Sophie Coutant

Rouen, 76000, France

Last Updated: 09/26/2026

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Found 39 publications

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome.

Journal: EBioMedicine
Published: August 07, 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

Genome-wide expression analysis in a Fabry disease human podocyte cell line.

Genome-wide expression analysis in a Fabry disease human podocyte cell line.

Journal: Heliyon
Published: March 14, 2024

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.

Journal: Genes & diseases
Published: January 23, 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

Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer.

Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer.

Journal: Cancers
Published: March 16, 2023

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.

Journal: Human genetics
Published: January 21, 2023

Postoperative circulating tumor DNA detection is associated with the risk of recurrence in patients resected for a stage II colorectal cancer.

Postoperative circulating tumor DNA detection is associated with the risk of recurrence in patients resected for a stage II colorectal cancer.

Journal: Frontiers in oncology
Published: June 19, 2022

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Journal: Human genetics
Published: May 19, 2022

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Journal: Human mutation
Published: March 11, 2022
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Last Updated: 09/26/2026