Associated Papers
Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing.
Marszałek-Kruk BA et al.
Journal of Clinical Medicine, 2026
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Granhøj J et al.
Kidney International Reports, 2025
Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.
Bensouna I et al.
Nature Reviews. Nephrology, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families.
Cerkauskaite-Kerpauskiene A et al.
International Journal of Molecular Sciences, 2025
A 15-year experience highlighting the spectrum of Alport kidney disease in the pediatric population and novel genetic variants in COL4A3-5.
Andrejašič N et al.
Pediatric Nephrology (berlin, Germany), 2025
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Renal Phenotype Variations among Families with Autosomal Alport Syndrome: Potential Role of Modifier Genes.
Ibrahim A et al.
Kidney360, 2025
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.
Krüger BM et al.
Kidney International Reports, 2025
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease.
Righini M et al.
Journal of Nephrology, 2025
Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.
Halat-Wolska P et al.
Genes, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD et al.
Kidney International, 2024
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Tato AM et al.
Clinical Kidney Journal, 2023
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Kidney International Reports, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E et al.
American Journal of Human Genetics, 2022
Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y et al.
Genes, 2022
Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.
Yavaş C et al.
Revista Da Associacao Medica Brasileira (1992), 2022
New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.
García-Aznar JM et al.
Journal of Clinical Medicine, 2022
Searching for the Molecular Basis of Partial Deafness.
Oziębło D et al.
International Journal of Molecular Sciences, 2022
Genotype-Phenotype Correlations for Pathogenic COL4A3-COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome.
Savige J et al.
Frontiers in Medicine, 2022
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Ćomić J et al.
Frontiers in Medicine, 2022
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.
Ammar S et al.
Journal of Human Genetics, 2021
Rare Collagenous Heterozygote Variants in Children With IgA Nephropathy.
Cambier A et al.
Kidney International Reports, 2021
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
Braunisch MC et al.
European Journal of Human Genetics : Ejhg, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review.
Matthaiou A et al.
Clinical Kidney Journal, 2020
An Exome Sequencing Study of 10 Families with IgA Nephropathy.
Stapleton CP et al.
Nephron, 2020
Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation.
Petzold F et al.
Bmc Nephrology, 2019
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Ottlewski I et al.
Kidney International, 2019
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Lata S et al.
Annals of Internal Medicine, 2018
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Lucas SEM et al.
Plos One, 2018
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions.
Ueda K et al.
Journal of Clinical Neurology (seoul, Korea), 2017
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Gast C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
Malone AF et al.
Kidney International, 2014