Detalhe da pesquisa
1.
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.
Genes Immun
; 23(1): 51-56, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34952932
2.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Hum Genet
; 141(1): 147-173, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889978
3.
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age.
Int J Mol Sci
; 22(13)2021 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34209673
4.
The effect of angiotensin-converting enzyme levels on COVID-19 susceptibility and severity: a Mendelian randomization study.
Int J Epidemiol
; 50(1): 75-86, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349849
5.
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
J Pers Med
; 11(6)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203982
6.
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.
Eur J Hum Genet
; 29(5): 745-759, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33456056
7.
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males.
EBioMedicine
; 65: 103246, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33647767
8.
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.
J Clin Invest
; 131(23)2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597274
9.
Clinical and molecular characterization of COVID-19 hospitalized patients.
PLoS One
; 15(11): e0242534, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33206719
10.
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
Cancers (Basel)
; 11(3)2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30832263
11.
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
Eur J Hum Genet
; 23(11): 1523-30, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712084