Sophie Krieger
Rouen, 76000, France
Last Updated: 09/26/2026
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Found 41 publications
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.
Journal: American journal of human genetics
Published: February 19, 2026
Decipher RNA isoform combinations from minigene splicing assays and massive parallel sequencing with MAGIC.
Journal: Bioinformatics (Oxford, England)
Published: June 05, 2025
Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Liquid Biopsies.
Journal: The Journal of molecular diagnostics : JMD
Published: January 07, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.
Journal: European journal of human genetics : EJHG
Published: November 27, 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
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
Fine mapping of RNA isoform diversity using an innovative targeted long-read RNA sequencing protocol with novel dedicated bioinformatics pipeline.
Journal: BMC genomics
Published: April 30, 2024
Predicting the impact of rare variants on RNA splicing in CAGI6.
Journal: Human genetics
Published: June 15, 2023
Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: March 27, 2023
Outcomes of Patients with Metastatic Castration-Resistant Prostate Cancer According to Somatic Damage DNA Repair Gene Alterations.
Journal: Current oncology (Toronto, Ont.)
Published: March 11, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Journal: Human mutation
Published: January 04, 2022
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
Last Updated: 09/26/2026