Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Nat Genet
; 51(4): 764, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816350
11.
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Nat Genet
; 51(1): 117-127, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30578417
12.
Genomic imbalances in pediatric patients with chronic kidney disease.
J Clin Invest
; 125(5): 2171-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893603