Detalhe da pesquisa
1.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
; 586(7831): 749-756, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087929
2.
Leveraging phenotypic variability to identify genetic interactions in human phenotypes.
Am J Hum Genet
; 108(1): 49-67, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33326753
3.
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
Am J Hum Genet
; 107(2): 251-264, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32640185
4.
Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.
Genet Epidemiol
; 45(6): 664-681, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184762
5.
A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians.
Diabetes Metab Res Rev
; 38(3): e3504, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34655148
6.
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
Eur J Neurol
; 29(4): 1174-1180, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34935254
7.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
; 102(5): 874-889, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727688
8.
U-PASS: unified power analysis and forensics for qualitative traits in genetic association studies.
Bioinformatics
; 36(3): 974-975, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400194
9.
The burden of pathogenic variants in clinically actionable genes in a founder population.
Am J Med Genet A
; 185(11): 3476-3484, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467620
10.
Assessment of the potential role of natural selection in type 2 diabetes and related traits across human continental ancestry groups: comparison of phenotypic with genotypic divergence.
Diabetologia
; 63(12): 2616-2627, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886191
11.
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.
N Engl J Med
; 377(3): 211-221, 2017 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28538136
12.
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
N Engl J Med
; 374(12): 1123-33, 2016 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933753
13.
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.
Eur J Hum Genet
; 31(5): 588-595, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927983
14.
Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians.
Eur J Hum Genet
; 30(10): 1159-1166, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35688891
15.
Extent and distribution of linkage disequilibrium in the Old Order Amish.
Genet Epidemiol
; 34(2): 146-50, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19697356
16.
Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records.
HGG Adv
; 2(3): 100039, 2021 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047837
17.
Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.
Science
; 374(6572): 1221-1227, 2021 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34855475
18.
Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians.
J Clin Endocrinol Metab
; 105(11)2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32818236
19.
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.
Nat Commun
; 9(1): 2252, 2018 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899519
20.
INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.
Pac Symp Biocomput
; 21: 168-79, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26776183