Helene Tubeuf

Rouen, 76000, France

Last Updated: 09/26/2026

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Found 16 publications

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

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

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

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

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

Journal: European journal of human genetics : EJHG

Published: September 25, 2021

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Journal: Cancer research

Published: March 31, 2020

Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.

Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.

Journal: Human mutation

Published: February 05, 2020

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.

Journal: Cancer research

Published: August 14, 2019

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.

Journal: BMC genomics

Published: July 16, 2019

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.

Journal: Scientific reports

Published: June 07, 2019

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

Journal: Journal of Alzheimer's disease : JAD

Published: February 27, 2018

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Journal: Hereditary cancer in clinical practice

Published: October 02, 2017

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Journal: Oncotarget

Published: September 07, 2017

Identification of genetic variants for clinical management of familial colorectal tumors.

Identification of genetic variants for clinical management of familial colorectal tumors.

Journal: BMC medical genetics

Published: June 30, 2017

Showing 1-12 of 16

Last Updated: 09/26/2026