Detalhe da pesquisa
1.
Predicting the impact of rare variants on RNA splicing in CAGI6.
Hum Genet
; 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170232
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.
SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data.
Bioinformatics
; 36(5): 1634-1636, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31617569
4.
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
5.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
J Med Genet
; 56(7): 453-460, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890586
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.
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Hum Mutat
; 40(10): 1856-1873, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131953
8.
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
9.
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
10.
Carboplatin in metastatic castration-resistant prostate cancer patients with molecular alterations of the DNA damage repair pathway: the PRO-CARBO phase II trial.
Ther Adv Urol
; 16: 17562872241229876, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425504
11.
Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer.
Clin Cancer Res
; 29(21): 4419-4429, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756555
12.
Value of the loss of heterozygosity to BRCA1 variant classification.
NPJ Breast Cancer
; 8(1): 9, 2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35039532