Detalhe da pesquisa
1.
Widespread macromolecular interaction perturbations in human genetic disorders.
Cell
; 161(3): 647-660, 2015 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25910212
2.
Overcoming constraints on the detection of recessive selection in human genes from population frequency data.
Am J Hum Genet
; 109(1): 33-49, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34951958
3.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
PLoS Genet
; 18(11): e1010367, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36327219
4.
Machine learning-based marker for coronary artery disease: derivation and validation in two longitudinal cohorts.
Lancet
; 401(10372): 215-225, 2023 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563696
5.
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
6.
Population-Based Penetrance of Deleterious Clinical Variants.
JAMA
; 327(4): 350-359, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35076666
7.
Using Full Genomic Information to Predict Disease: Breaking Down the Barriers Between Complex and Mendelian Diseases.
Annu Rev Genomics Hum Genet
; 19: 289-301, 2018 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29641912
8.
Identification of cis-suppression of human disease mutations by comparative genomics.
Nature
; 524(7564): 225-9, 2015 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123021
9.
No causal effects of serum urate levels on the risk of chronic kidney disease: A Mendelian randomization study.
PLoS Med
; 16(1): e1002725, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30645594
10.
A literature review at genome scale: improving clinical variant assessment.
Genet Med
; 20(9): 936-941, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388949
11.
Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease.
PLoS Genet
; 11(10): e1005622, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26509271
12.
Excess of Deleterious Mutations around HLA Genes Reveals Evolutionary Cost of Balancing Selection.
Mol Biol Evol
; 33(10): 2555-64, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27436009
13.
Mitigating false-positive associations in rare disease gene discovery.
Hum Mutat
; 36(10): 998-1003, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26378430
14.
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
Am J Hum Genet
; 88(2): 183-92, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310275
15.
Muesli Intake May Protect Against Coronary Artery Disease: Mendelian Randomization on 13 Dietary Traits.
JACC Adv
; 3(4)2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38737007
16.
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications.
Nat Genet
; 56(1): 51-59, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38172303
17.
Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.
Hum Mutat
; 34(9): 1216-20, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23818451
18.
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
19.
Phenome-wide Mendelian randomization study of plasma triglyceride levels and 2600 disease traits.
Elife
; 122023 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36988189
20.
A machine learning model identifies patients in need of autoimmune disease testing using electronic health records.
Nat Commun
; 14(1): 2385, 2023 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37169741