Edwige Kasper
Rouen, 76000, France
Last Updated: 09/26/2026
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Found 13 publications
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients.
Journal: Familial cancer
Published: November 28, 2024
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
Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.
Journal: Journal of medical genetics
Published: October 21, 2024
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
Bone sarcomas and cancer predisposition syndromes.
Journal: Bulletin du cancer
Published: June 30, 2024
SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.
Journal: American journal of medical genetics. Part A
Published: February 02, 2024
Detecting inversions in routine molecular diagnosis in MMR genes.
Journal: Familial cancer
Published: September 14, 2021
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Journal: Clinical genetics
Published: November 04, 2020
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.
Journal: European journal of human genetics : EJHG
Published: November 22, 2019
Contribution of genotoxic anticancer treatments to the development of multiple primary tumours in the context of germline TP53 mutations.
Journal: European journal of cancer (Oxford, England : 1990)
Published: March 05, 2018
Last Updated: 09/26/2026