Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Am J Hum Genet
; 99(2): 511-20, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453579
5.
Identification of genetic variants for clinical management of familial colorectal tumors.
BMC Med Genet
; 19(1): 26, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29458332
6.
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.
Hered Cancer Clin Pract
; 16: 4, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29371908
7.
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
BMC Cancer
; 17(1): 623, 2017 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28874130
8.
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
9.
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Cancer Res
; 80(7): 1374-1386, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32046981
10.
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Cancer Res
; 80(17): 3593-3605, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641407
11.
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
Sci Rep
; 9(1): 18555, 2019 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31811167
12.
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Fam Cancer
; 17(1): 141-153, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28608266
13.
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.
J Alzheimers Dis
; 62(2): 821-831, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29480197
14.
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
Oncotarget
; 9(25): 17334-17348, 2018 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29707112
15.
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Mol Genet Genomic Med
; 5(4): 373-389, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28717662