Detalhe da pesquisa
1.
F cell numbers are associated with an X-linked genetic polymorphism and correlate with haematological parameters in patients with sickle cell disease.
Br J Haematol
; 191(5): 888-896, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073380
2.
Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.
Nat Hum Behav
; 7(5): 790-801, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36864135
3.
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Sci Adv
; 7(11)2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33692100
4.
A bird's-eye view of Italian genomic variation through whole-genome sequencing.
Eur J Hum Genet
; 28(4): 435-444, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31784700
5.
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss.
Front Genet
; 10: 142, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30863428
6.
Associations of autozygosity with a broad range of human phenotypes.
Nat Commun
; 10(1): 4957, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673082
7.
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
Nat Genet
; 51(10): 1459-1474, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578528
8.
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.
Sci Rep
; 9(1): 15192, 2019 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645637
9.
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Nat Genet
; 51(6): 957-972, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152163
10.
Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.
Nat Genet
; 51(7): 1190, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31150021
11.
Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals.
J Am Coll Cardiol
; 73(24): 3118-3131, 2019 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31221261
12.
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection.
Eur J Hum Genet
; 26(8): 1167-1179, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29725052
13.
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Front Genet
; 9: 681, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622556
14.
Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway.
Redox Biol
; 19: 301-317, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30199819
15.
Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.
Nat Genet
; 50(5): 652-656, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29662168
16.
Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals
Artigo
em Inglês
| Arca: Repositório institucional da Fiocruz | ID: arc-34832