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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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36273432
2.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-31992191
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29750258
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31863589
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30321405
6.
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Cancer Res
; 80(7): 1374-1386, 2020 04 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32046981
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32641407
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