Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Sci Rep
; 13(1): 21540, 2023 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38057357
12.
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
13.
Pilot Study of Return of Genetic Results to Patients in Adult Nephrology.
Clin J Am Soc Nephrol
; 15(5): 651-664, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32299846
14.
Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network.
J Pers Med
; 10(2)2020 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32349224
15.
Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network.
J Pers Med
; 10(2)2020 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413979
16.
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.
J Pers Med
; 8(1)2018 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29301385
17.
The ethics of genetic testing for kidney diseases.
Nat Rev Nephrol
; 16(11): 619-620, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32358593
18.
Pitfalls and Challenges of Consenting to Genetic Research Studies.
Kidney Int Rep
; 3(6): 1245-1248, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450447