Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.

Clinical genetics - 1 Sept 2023

Jung Jiwon, Lee Joo Hoon, Seo Go Hun, Keum Changwon, Kang Hee Gyung, Cho Heeyeon, Lee Hajeong, Park Su-Kil, Baek Chung Hee, Han Ro, Lee Sang Taek, Cho Min Hyun, Yim Hyung Eun, Koo Ja Wook, Lee Beom Hee

Abstract excerpt

The genetic spectrum of genetic kidney diseases (GKD) and the application of genetic diagnoses to patient care were assessed by whole exome sequencing (WES) of the DNA of 172 pediatric or adult patients with various kidney diseases. WES diagnosed genetic diseases in 63 (36.6%) patients. The diagnostic yields in patients with glomerulopathy were 33.8% (25/74 pts) due to variants in 10 genes, 58.8% (20/34) in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exome Sequencing
Share to Kidney

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nephritis, Interstitial

Share to Phenotype

Share to Urinary Tract

Source

Identifiers

PMID: 37270787
DOI: 10.1111/cge.14382

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.PMID 37270787Read ↗

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of LifeSemantic proximity Read ↗

Diagnostic Utility of Exome Sequencing for Kidney DiseaseSemantic proximity Read ↗

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant RecipientsSemantic proximity Read ↗

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndromeSemantic proximity Read ↗

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.Semantic proximity Read ↗

New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.Semantic proximity Read ↗

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.Semantic proximity Read ↗

A step-by-step, multidisciplinary strategy to maximize the yield of genetic testing in pediatric patients with chronic kidney diseases.Semantic proximity Read ↗

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.Semantic proximity Read ↗

Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown EtiologySemantic proximity Read ↗

Diagnostic Utility of Exome Sequencing for Kidney DiseaseSemantic proximity Read ↗

Exome sequencing as a diagnostic tool in chronic kidney disease: ready for clinical application?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.