[HTML][HTML] Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

CP Thomas, ME Freese, A Ounda, JG Jetton… - Genetics in …, 2020 - Elsevier
Abstract Purpose A Renal Genetics Clinic (RGC) was established to optimize diagnostic
testing, facilitate genetic counseling, and direct clinical management. Methods Retrospective …

[HTML][HTML] Screening of living kidney donors for genetic diseases using a comprehensive genetic testing strategy

CP Thomas, MA Mansilla, R Sompallae… - American Journal of …, 2017 - Elsevier
Related living kidney donors (LKDs) are at higher risk of end-stage renal disease (ESRD)
compared with unrelated LKDs. A genetic panel was developed to screen 115 genes …

From theory to reality: establishing a successful kidney genetics clinic in the outpatient setting

AL Lundquist, RC Pelletier, CE Leonard… - Kidney360, 2020 - journals.lww.com
Background Genetic testing in nephrology is increasingly described in the literature and
several groups have suggested significant clinical benefit. However, studies to date have …

[HTML][HTML] The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

EAE Elhassan, SL Murray, DM Connaughton… - Journal of …, 2022 - Springer
Methods In this prospective cohort study, we undertook genetic testing in adults with
suspected GKD according to prespecified criteria. Over 7 years, patients were referred from …

Lessons learned from a multidisciplinary renal genetics clinic

S Alkanderi, LM Yates, SA Johnson… - QJM: An International …, 2017 - academic.oup.com
Background: Inherited renal disorders comprise a significant proportion of cases in both
paediatric and adult nephrology services. Genetic advances have advanced rapidly while …

Hereditary renal diseases

L Mehta, B Jim - Seminars in nephrology, 2017 - Elsevier
Hereditary kidney disease comprises approximately 10% of adults and nearly all children
who require renal replacement therapy. Technologic advances have improved our ability to …

A multidisciplinary nephrogenetic referral clinic for children and adults—diagnostic achievements and insights

B Pode-Shakked, Y Ben-Moshe, O Barel, LC Regev… - Pediatric …, 2022 - Springer
Background Genetic kidney diseases contribute a significant portion of kidney diseases in
children and young adults. Nephrogenetics is a rapidly evolving subspecialty; however, in …

[HTML][HTML] A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

G Bullich, A Domingo-Gallego, I Vargas, P Ruiz… - Kidney international, 2018 - Elsevier
Molecular diagnosis of inherited kidney diseases remains a challenge due to their
expanding phenotypic spectra as well as the constantly growing list of disease-causing …

[HTML][HTML] Genetic counseling in kidney disease: a perspective

Q Stein, M Westemeyer, T Darwish, T Pitman, M Hager… - Kidney Medicine, 2023 - Elsevier
As genetic testing is increasingly integrated into nephrology practice there is a growing need
for partnership with genetic experts. Genetic counselors are ideally suited to fill this role. The …

[HTML][HTML] The evolving role of diagnostic genomics in kidney transplantation

J Soraru, A Chakera, N Isbel… - Kidney International …, 2022 - Elsevier
Monogenic forms of heritable kidney disease account for a significant proportion of chronic
kidney disease (CKD) across both pediatric and adult patient populations and up to 11% of …