Detalhe da pesquisa
1.
Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.
Nat Rev Genet
; 20(11): 702, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31520075
2.
Leveraging European infrastructures to access 1 million human genomes by 2022.
Nat Rev Genet
; 20(11): 693-701, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31455890
3.
Transportation as a Disease Vector in COVID-19: Border Mobility and Disease Spread.
Transp Res Rec
; 2677(4): 826-838, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602941
4.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35178824
5.
Maintenance Strategies for Industrial Multi-Stage Machines: The Study of a Thermoforming Machine.
Sensors (Basel)
; 21(20)2021 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34696022
6.
Piezo1 is required for outflow tract and aortic valve development.
J Mol Cell Cardiol
; 143: 51-62, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32251670
7.
Identification of a peripheral blood gene signature predicting aortic valve calcification.
Physiol Genomics
; 52(12): 563-574, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044885
8.
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Nucleic Acids Res
; 46(W1): W545-W553, 2018 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29860484
9.
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.
Eur Respir J
; 49(5)2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495692
10.
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Blood
; 126(11): 1273-80, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26148990
11.
Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.
Haematologica
; 102(10): 1758-1766, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28751561
12.
Neural crest regulates myogenesis through the transient activation of NOTCH.
Nature
; 473(7348): 532-5, 2011 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21572437
13.
How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.
Hum Mutat
; 37(12): 1272-1282, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27599893
14.
UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.
Hum Mutat
; 37(5): 439-46, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842889
15.
Actionable Genes, Core Databases, and Locus-Specific Databases.
Hum Mutat
; 37(12): 1299-1307, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27600092
16.
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Hum Mutat
; 37(12): 1308-1317, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27647783
17.
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Hum Mutat
; 37(12): 1318-1328, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633797
18.
The king cobra genome reveals dynamic gene evolution and adaptation in the snake venom system.
Proc Natl Acad Sci U S A
; 110(51): 20651-6, 2013 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24297900
19.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604253
20.
Identification of splicing defects caused by mutations in the dysferlin gene.
Hum Mutat
; 35(12): 1532-41, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25312915