Detalhe da pesquisa
1.
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters.
Int J Mol Sci
; 24(14)2023 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511631
2.
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
Hum Mutat
; 40(9): 1593-1611, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31112341
3.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat
; 40(9): 1546-1556, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294896
4.
The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions.
Hum Mutat
; 37(10): 1013-24, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27397615
5.
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
Proteins
; 83(1): 91-104, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25382311
6.
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Orphanet J Rare Dis
; 13(1): 125, 2018 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30041674
7.
The relationship between gene isoform multiplicity, number of exons and protein divergence.
PLoS One
; 8(8): e72742, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24023641