Detalhe da pesquisa
1.
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Hum Mutat
; 43(12): 2010-2020, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054330
2.
Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.
J Med Internet Res
; 22(10): e19040, 2020 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33034563
3.
Genomic epidemiology of the primary methicillin-resistant Staphylococcus aureus clones causing invasive infections in Paraguayan children.
Microbiol Spectr
; 12(4): e0301223, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38415665
4.
A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain).
Front Immunol
; 13: 997148, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203598
5.
First Census of Patients with Hereditary Angioedema in the Canary Islands.
J Clin Med
; 10(20)2021 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34682833
6.
Corrigendum: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics.
Front Genet
; 11: 690, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32849768
7.
Evaluation of Whole-Exome Enrichment Solutions: Lessons from the High-End of the Short-Read Sequencing Scale.
J Clin Med
; 9(11)2020 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33202991
8.
Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics.
Front Genet
; 10: 900, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31611908
9.
Whole-Exome Sequencing Identifies Somatic Mutations Associated With Mortality in Metastatic Clear Cell Kidney Carcinoma.
Front Genet
; 10: 439, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31156702