Detalhe da pesquisa
1.
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
J Med Genet
; 60(5): 450-459, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113988
2.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
3.
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.
Hum Mutat
; 42(4): 408-420, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410562
4.
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.
Hum Mutat
; 41(10): 1811-1829, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741062
5.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
6.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750258
7.
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
PLoS Genet
; 12(1): e1005756, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26761715
8.
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
Hum Mutat
; 38(1): 64-77, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27629256
9.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 48(3): 1600-1601, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863589
10.
Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies.
Ann Hematol
; 95(7): 1043-50, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106701
11.
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.
Hum Mutat
; 36(4): 443-53, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25615407
12.
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(21): 11656-11657, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30321405
13.
Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
PLoS Genet
; 12(4): e1005971, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27049861
14.
Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
Hum Mutat
; 34(11): 1547-57, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23983145
15.
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
J Med Genet
; 49(10): 609-17, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22962691
16.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Hum Mutat
; 33(8): 1228-38, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505045
17.
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
Eur J Hum Genet
; 30(9): 1051-1059, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35676339
18.
The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
J Med Genet
; 47(6): 398-403, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522429
19.
Genomic variations integrated database for MUTYH-associated adenomatous polyposis.
J Med Genet
; 52(1): 25-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25368107
20.
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
J Med Genet
; 47(10): 721-2, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20685668