Detalhe da pesquisa
1.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
2.
Insights into gene tissue specificity and protein-protein interactions in the context of purifying selection in humans.
Ann Hum Genet
; 87(1-2): 75-79, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36704895
3.
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.
J Am Soc Nephrol
; 33(3): 511-529, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35228297
4.
Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies.
Kidney Int
; 102(3): 624-639, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716955
5.
Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline.
Kidney Int
; 99(4): 926-939, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33137338
6.
A population-based approach for gene prioritization in understanding complex traits.
Hum Genet
; 139(5): 647-655, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32232557
7.
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
Am J Hum Genet
; 100(6): 865-884, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28552196
8.
COL6A5 variants in familial neuropathic chronic itch.
Brain
; 140(3): 555-567, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28073787
9.
A general approach for haplotype phasing across the full spectrum of relatedness.
PLoS Genet
; 10(4): e1004234, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24743097
10.
Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
PLoS Genet
; 10(2): e1004123, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24586183
11.
Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations.
J Transl Med
; 14: 22, 2016 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26801900
12.
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
J Am Soc Nephrol
; 25(8): 1869-82, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24578125
13.
X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.
Nat Commun
; 15(1): 586, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38233393
14.
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
15.
Genetic insights into resting heart rate and its role in cardiovascular disease.
Nat Commun
; 14(1): 4646, 2023 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37532724
16.
Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
J Med Genet
; 48(9): 629-34, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21785125
17.
Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population.
BMC Genom Data
; 23(1): 73, 2022 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36131251
18.
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Nat Commun
; 13(1): 5144, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36050321
19.
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.
Commun Biol
; 5(1): 580, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35697829
20.
The Role of Knockout Olfactory Receptor Genes in Odor Discrimination.
Genes (Basel)
; 12(5)2021 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33922566