Detalhe da pesquisa
1.
Genetics of Kidney Disease: The Unexpected Role of Rare Disorders.
Annu Rev Med
; 74: 353-367, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36375470
2.
Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients.
Kidney Int
; 106(1): 115-125, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38521406
3.
Assisting the analysis of insertions and deletions using regional allele frequencies.
Funct Integr Genomics
; 24(3): 104, 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38764005
4.
Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.
J Am Soc Nephrol
; 34(5): 909-919, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758113
5.
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
J Am Soc Nephrol
; 34(12): 2039-2050, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794564
6.
Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices.
Am J Transplant
; 23(5): 597-607, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868514
7.
The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists.
Genet Med
; 25(5): 100814, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36789889
8.
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Genet Med
; 25(12): 100983, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37746849
9.
Incorporating genetics services into adult kidney disease care.
Am J Med Genet C Semin Med Genet
; 190(3): 289-301, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161695
10.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Hum Mol Genet
; 29(22): 3662-3678, 2020 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33276377
11.
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
12.
Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.
Genet Med
; 24(4): 862-869, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078725
13.
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Genet Med
; 24(5): 1130-1138, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216901
14.
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
15.
Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient.
Ann Intern Med
; 174(4): 540-547, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33460345
16.
Longitudinal Outcomes of COVID-19-Associated Collapsing Glomerulopathy and Other Podocytopathies.
J Am Soc Nephrol
; 32(11): 2958-2969, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34670811
17.
Loss of Roundabout Guidance Receptor 2 (Robo2) in Podocytes Protects Adult Mice from Glomerular Injury by Maintaining Podocyte Foot Process Structure.
Am J Pathol
; 190(4): 799-816, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220420
18.
Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network.
Am J Med Genet A
; 185(2): 508-516, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36046768
19.
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
20.
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