Detalhe da pesquisa
1.
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Cell
; 167(5): 1415-1429.e19, 2016 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863252
2.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
3.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Am J Hum Genet
; 108(9): 1551-1557, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329581
4.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
; 24(8): 1732-1742, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507016
5.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Blood
; 134(23): 2082-2091, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064749
6.
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Am J Respir Crit Care Med
; 201(5): 575-585, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31661308
7.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
Blood
; 127(23): 2791-803, 2016 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27084890
8.
The InterPro protein families database: the classification resource after 15 years.
Nucleic Acids Res
; 43(Database issue): D213-21, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25428371
9.
Genenames.org: the HGNC resources in 2013.
Nucleic Acids Res
; 41(Database issue): D545-52, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161694
10.
InterPro in 2011: new developments in the family and domain prediction database.
Nucleic Acids Res
; 40(Database issue): D306-12, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22096229
11.
Gene family matters: expanding the HGNC resource.
Hum Genomics
; 6: 4, 2012 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23245209
12.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Lancet Neurol
; 21(3): 234-245, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35182509
13.
InterPro: the integrative protein signature database.
Nucleic Acids Res
; 37(Database issue): D211-5, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18940856
14.
New developments in the InterPro database.
Nucleic Acids Res
; 35(Database issue): D224-8, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17202162
15.
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Nat Commun
; 9(1): 1416, 2018 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29650961
16.
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Nat Genet
; 51(11): 1560-1565, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31676867