Detalhe da pesquisa
1.
Probing the aggregated effects of purifying selection per individual on 1,380 medical phenotypes in the UK Biobank.
PLoS Genet
; 17(1): e1009337, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493176
2.
Genome-wide polygenic risk score for retinopathy of type 2 diabetes.
Hum Mol Genet
; 30(10): 952-960, 2021 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704450
3.
Population-Based Penetrance of Deleterious Clinical Variants.
JAMA
; 327(4): 350-359, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35076666
4.
Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries.
Hum Mutat
; 42(8): 969-977, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34005834
5.
Multiple Modes of Positive Selection Shaping the Patterns of Incomplete Selective Sweeps over African Populations of Drosophila melanogaster.
Mol Biol Evol
; 34(11): 2792-2807, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28981697
6.
Genetically Downregulated Interleukin-6 Signaling Is Associated With a Favorable Cardiometabolic Profile: A Phenome-Wide Association Study.
Circulation
; 143(11): 1177-1180, 2021 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33720771
7.
Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system.
Cell Rep Med
; : 101518, 2024 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38642551
8.
Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes.
Diabetes Care
; 47(6): 1042-1047, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652672
9.
A deep learning transformer model predicts high rates of undiagnosed rare disease in large electronic health systems.
medRxiv
; 2023 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196638
10.
Polygenic prediction of preeclampsia and gestational hypertension.
Nat Med
; 29(6): 1540-1549, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37248299
11.
Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program.
Nat Genet
; 55(7): 1106-1115, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308786
12.
Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus.
medRxiv
; 2023 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37546893
13.
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.
Nat Genet
; 54(7): 950-962, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710981
14.
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.
Nat Commun
; 13(1): 6914, 2022 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36376295
15.
Molecular Analysis of the Kidney From a Patient With COVID-19-Associated Collapsing Glomerulopathy.
Kidney Med
; 3(4): 653-658, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942030
16.
Genome-Wide Polygenic Risk Score for CKD in Individuals with APOL1 High-Risk Genotypes.
Clin J Am Soc Nephrol
; 19(3): 374-376, 2024 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962879
17.
Machine Learning Identifies Plasma Metabolites Associated With Heart Failure in Underrepresented Populations With the TTR V122I Variant.
J Am Heart Assoc
; 12(8): e027736, 2023 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37042260
18.
Genome-Wide Epistatic Interaction between DEF1B and APOL1 High-Risk Genotypes for Chronic Kidney Disease.
Clin J Am Soc Nephrol
; 17(10): 1522-1525, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948364
19.
A Composite-Likelihood Method for Detecting Incomplete Selective Sweep from Population Genomic Data.
Genetics
; 200(2): 633-49, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25911658