Detalhe da pesquisa
1.
Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.
Cell
; 184(7): 1651, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33798434
2.
Loci for insulin processing and secretion provide insight into type 2 diabetes risk.
Am J Hum Genet
; 110(2): 284-299, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36693378
3.
Identification and analysis of individuals who deviate from their genetically-predicted phenotype.
PLoS Genet
; 19(9): e1010934, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37733769
4.
Genetically proxied therapeutic prolyl-hydroxylase inhibition and cardiovascular risk.
Hum Mol Genet
; 32(3): 496-505, 2023 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36048866
5.
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population.
Am J Hum Genet
; 109(7): 1308-1316, 2022 07 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35700724
6.
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies.
Am J Hum Genet
; 109(9): 1638-1652, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36055212
7.
The impact of Mendelian sleep and circadian genetic variants in a population setting.
PLoS Genet
; 18(9): e1010356, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36137075
8.
Fetal alleles predisposing to metabolically favorable adiposity are associated with higher birth weight.
Hum Mol Genet
; 31(11): 1762-1775, 2022 06 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34897462
9.
A genome-wide association study identifies 5 loci associated with frozen shoulder and implicates diabetes as a causal risk factor.
PLoS Genet
; 17(6): e1009577, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34111113
10.
Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.
Diabetologia
; 66(8): 1472-1480, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37280435
11.
Higher adiposity and mental health: causal inference using Mendelian randomization.
Hum Mol Genet
; 30(24): 2371-2382, 2021 11 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34270736
12.
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.
Am J Hum Genet
; 107(2): 325-329, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32574563
13.
Age-specific effects of weight-based body size on fracture risk in later life: a lifecourse Mendelian randomisation study.
Eur J Epidemiol
; 38(7): 795-807, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37133737
14.
Methodological approaches, challenges, and opportunities in the application of Mendelian randomisation to lifecourse epidemiology: A systematic literature review.
Eur J Epidemiol
; 2023 Nov 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37938447
15.
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Am J Hum Genet
; 104(2): 275-286, 2019 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30665703
16.
Identifying molecular mediators of the relationship between body mass index and endometrial cancer risk: a Mendelian randomization analysis.
BMC Med
; 20(1): 125, 2022 04 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35436960
17.
Detection and characterization of male sex chromosome abnormalities in the UK Biobank study.
Genet Med
; 24(9): 1909-1919, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35687092
18.
Genomics and multimorbidity.
Age Ageing
; 51(12)2022 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36469092
19.
Higher maternal adiposity reduces offspring birthweight if associated with a metabolically favourable profile.
Diabetologia
; 64(12): 2790-2802, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34542646
20.
A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio.
Hum Mol Genet
; 28(24): 4197-4207, 2019 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31630189