Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325380
2.
ASCC1 structures and bioinformatics reveal a novel Helix-Clasp-Helix RNA-binding motif linked to a two-histidine phosphodiesterase.
J Biol Chem
; : 107368, 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38750793
3.
A general calculus of fitness landscapes finds genes under selection in cancers.
Genome Res
; 32(5): 916-929, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35301263
4.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685113
5.
Predicting the impact of rare variants on RNA splicing in CAGI6.
Hum Genet
; 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170232
6.
ShinyBioHEAT: an interactive shiny app to identify phenotype driver genes in E.coli and B.subtilis.
Bioinformatics
; 39(8)2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37522889
7.
Evolution of cisplatin resistance through coordinated metabolic reprogramming of the cellular reductive state.
Br J Cancer
; 128(11): 2013-2024, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37012319
8.
Genome interpretation using in silico predictors of variant impact.
Hum Genet
; 141(10): 1549-1577, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488922
9.
Identification of evolutionarily stable functional and immunogenic sites across the SARS-CoV-2 proteome and greater coronavirus family.
Bioinformatics
; 37(22): 4033-4040, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043002
10.
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Genet Med
; 23(8): 1465-1473, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833410
11.
CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation.
Hum Mutat
; 40(9): 1436-1454, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31317604
12.
Assessment of methods for predicting the effects of PTEN and TPMT protein variants.
Hum Mutat
; 40(9): 1495-1506, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31184403
13.
Assessing predictions on fitness effects of missense variants in calmodulin.
Hum Mutat
; 40(9): 1463-1473, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31283071
14.
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge.
Hum Mutat
; 40(9): 1392-1399, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209948
15.
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Hum Mutat
; 40(9): 1330-1345, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31144778
16.
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.
Hum Mutat
; 40(9): 1474-1485, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260570
17.
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
18.
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Hum Mutat
; 40(9): 1530-1545, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301157
19.
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.
Hum Mutat
; 40(9): 1612-1622, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31241222
20.
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Hum Mutat
; 40(9): 1519-1529, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31342580