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List of works by Pascaline Gaildrat

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

scientific article

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

scientific article published in January 2018

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants

scientific article

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes ⬇️

scientific article published on June 15, 2011

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.

scientific article

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

scientific article published on 13 January 2016

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

scientific article published on 07 January 2021

Genomic variations integrated database forMUTYH-associated adenomatous polyposis

scientific article published on 03 November 2014

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

scientific article published on 03 August 2010

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

scientific article published on 19 March 2015

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation ⬇️

scientific article published on September 7, 2012

Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies.

scientific article published on 23 April 2016

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published on 01 September 2018

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

scientific article published on January 2010

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