Detalhe da pesquisa
1.
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.
Hum Genomics
; 18(1): 20, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395944
2.
Gene expression across mammalian organ development.
Nature
; 571(7766): 505-509, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243369
3.
A platform for curated products from novel open reading frames prompts reinterpretation of disease variants.
Genome Res
; 31(2): 327-336, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33468550
4.
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.
Hum Genet
; 142(2): 245-274, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36344696
5.
Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin.
Nucleic Acids Res
; 49(1): 221-243, 2021 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300026
6.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Hum Genet
; 139(10): 1197-1207, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32596782
7.
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.
PLoS Comput Biol
; 15(6): e1007112, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199787
8.
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Hum Mutat
; 40(10): 1856-1873, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131953
9.
FATHMM-XF: accurate prediction of pathogenic point mutations via extended features.
Bioinformatics
; 34(3): 511-513, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28968714
10.
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants.
Nucleic Acids Res
; 45(3): e13, 2017 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28180317
11.
Quantitative mapping of genetic similarity in human heritable diseases by shared mutations.
Hum Mutat
; 39(2): 292-301, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044887
12.
Biological and functional relevance of CASP predictions.
Proteins
; 86 Suppl 1: 374-386, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28975675
13.
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.
Bioinformatics
; 33(14): i389-i398, 2017 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882004
14.
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
BMC Med Genet
; 19(1): 183, 2018 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30305043
15.
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.
Gastrointest Endosc
; 88(4): 665-673, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29702101
16.
Insights into hominid evolution from the gorilla genome sequence.
Nature
; 483(7388): 169-75, 2012 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22398555
17.
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.
BMC Bioinformatics
; 18(1): 442, 2017 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28985712
18.
Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.
Hum Mutat
; 38(10): 1336-1347, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649752
19.
ExonImpact: Prioritizing Pathogenic Alternative Splicing Events.
Hum Mutat
; 38(1): 16-24, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604408
20.
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Hum Genet
; 136(6): 665-677, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28349240