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.
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Int J Mol Sci
; 22(12)2021 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34207612
3.
Polygenic analysis suggests the involvement of calcium signaling in executive function in schizophrenia patients.
Eur Arch Psychiatry Clin Neurosci
; 270(4): 425-431, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523404
4.
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
5.
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
6.
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A.
bioRxiv
; 2024 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798479