Detalhe da pesquisa
1.
Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets.
Am J Hum Genet
; 110(4): 575-591, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37028392
2.
Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network.
Genet Epidemiol
; 45(1): 4-15, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32964493
3.
Diagnostic Utility of Exome Sequencing for Kidney Disease.
N Engl J Med
; 380(2): 142-151, 2019 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586318
4.
Do research participants share genomic screening results with family members?
J Genet Couns
; 31(2): 447-458, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34665896
5.
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.
J Am Soc Nephrol
; 32(4): 805-820, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597122
6.
Genomic considerations for FHIR®; eMERGE implementation lessons.
J Biomed Inform
; 118: 103795, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33930535
7.
GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing.
J Genet Couns
; 30(3): 742-754, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368851
8.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(5): 789-802, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100090
9.
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med
; 376(8): 742-754, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28121514
10.
Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders.
Pediatr Res
; 88(5): 761-768, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32221475
11.
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.
Ann Intern Med
; 170(1): 11-21, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476936
12.
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Genet Med
; 21(10): 2407, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040387
13.
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Genet Med
; 21(10): 2371-2380, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30930462
14.
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Ann Intern Med
; 168(2): 100-109, 2018 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29204651
15.
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.
Kidney Int
; 88(6): 1402-1410, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352300
16.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Am J Hum Genet
; 101(6): 1034, 2017 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220675
17.
An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results.
JAMIA Open
; 4(1): ooab014, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709066
18.
Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies.
NPJ Digit Med
; 4(1): 70, 2021 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33850243
19.
Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry.
JAMA Netw Open
; 4(8): e2119084, 2021 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34347061
20.
Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network.
Pac Symp Biocomput
; 24: 272-283, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30864329