about
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies.Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.Genomic variations integrated database forMUTYH-associated adenomatous polyposisGermline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAPNovel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
P50
Q33906956-D432FEE2-2508-41F0-A533-EAAD59E66642Q35892850-349B5F32-082C-4E18-8820-8917AEB1C255Q37781008-F3BFA8DE-6E1B-4920-9BB7-CDA7A8CA0B14Q39389539-21E2AB50-21A5-4172-84D2-B8C488FA0DC7Q41536718-E5F04413-8943-461E-8867-F1B0CFCD6BD5Q46616674-290BD9D2-E22E-4DB0-95A3-F0B246EC6672Q47804537-6EE01219-BD0B-46A3-A0D7-D5CD2C0BDF61Q52685694-03342F57-F069-4574-A695-0DE5C9989BBFQ59526158-F6776E54-EC04-4045-816C-1C5990FE9B9AQ84663595-1135A848-01B3-475B-AFFE-4B5C8EB956A8Q88639282-536CD04B-3D34-4258-B301-C6A3C3AEF4AD
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Pascaline Gaildrat
@en
Pascaline Gaildrat
@nl
type
label
Pascaline Gaildrat
@en
Pascaline Gaildrat
@nl
prefLabel
Pascaline Gaildrat
@en
Pascaline Gaildrat
@nl
P31
P496
0000-0002-6388-7628