Detalhe da pesquisa
1.
Toward clinical exomes in diagnostics and management of male infertility.
Am J Hum Genet
; 111(5): 877-895, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38614076
2.
Rare variant association on unrelated individuals in case-control studies using aggregation tests: existing methods and current limitations.
Brief Bioinform
; 24(6)2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974506
3.
Prioritization of oligogenic variant combinations in whole exomes.
Bioinformatics
; 40(4)2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38603604
4.
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Hum Genomics
; 17(1): 16, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859317
5.
Excalibur: A new ensemble method based on an optimal combination of aggregation tests for rare-variant association testing for sequencing data.
PLoS Comput Biol
; 19(9): e1011488, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37708232
6.
A knowledge graph approach to predict and interpret disease-causing gene interactions.
BMC Bioinformatics
; 24(1): 324, 2023 Aug 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644440
7.
Faster and more accurate pathogenic combination predictions with VarCoPP2.0.
BMC Bioinformatics
; 24(1): 179, 2023 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37127601
8.
Predicting disease-causing variant combinations.
Proc Natl Acad Sci U S A
; 116(24): 11878-11887, 2019 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127050
9.
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
Clin Endocrinol (Oxf)
; 94(4): 656-666, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296094
10.
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.
Nucleic Acids Res
; 47(W1): W93-W98, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147699
11.
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Hum Mutat
; 41(2): 512-524, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696992
12.
Evolutionary dynamics of paroxysmal nocturnal hemoglobinuria.
PLoS Comput Biol
; 14(6): e1006133, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29912864
13.
Understanding mutational effects in digenic diseases.
Nucleic Acids Res
; 45(15): e140, 2017 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28911095
14.
DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins.
Nucleic Acids Res
; 45(W1): W201-W206, 2017 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498993
15.
SVM-dependent pairwise HMM: an application to protein pairwise alignments.
Bioinformatics
; 33(24): 3902-3908, 2017 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28666322
16.
DIDA: A curated and annotated digenic diseases database.
Nucleic Acids Res
; 44(D1): D900-7, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26481352
17.
Multilevel biological characterization of exomic variants at the protein level significantly improves the identification of their deleterious effects.
Bioinformatics
; 32(12): 1797-804, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153718
18.
From Binding-Induced Dynamic Effects in SH3 Structures to Evolutionary Conserved Sectors.
PLoS Comput Biol
; 12(5): e1004938, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27213566
19.
The DynaMine webserver: predicting protein dynamics from sequence.
Nucleic Acids Res
; 42(Web Server issue): W264-70, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24728994
20.
Predicting virus mutations through statistical relational learning.
BMC Bioinformatics
; 15: 309, 2014 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25238967