Associated Papers
Fifty Shades of Risk: Population Studies and the Genetic Architecture of Kidney Diseases.
Sadeghi-Alavijeh O et al.
Journal of the American Society of Nephrology : Jasn, 2026
Clinical implications of expanded carrier screening for pregnancy-related care and individual health.
Gemmell LC et al.
Fertility and Sterility, 2026
Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.
Azouaou L et al.
Pediatric Nephrology (berlin, Germany), 2026
Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.
Mansour B et al.
Pediatric Nephrology (berlin, Germany), 2026
A Rare NPHS2 Mutation (E130K) in Hereditary Steroid-Resistant Nephrotic Syndrome: A Case Report.
Mujahed RH et al.
Case Reports in Nephrology, 2026
Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.
Elaraby NM et al.
Molecular and Cellular Pediatrics, 2025
Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.
Amr KS et al.
Molecular Biology Reports, 2025
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
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
The MEC-2E isoform with a large C-terminal completely rescues the touch sensation defect of C. elegans.
Keszthelyi TM et al.
Scientific Reports, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
Association between SIRT-1 and SERPINA4 gene polymorphisms and the risk of idiopathic nephrotic syndrome among Egyptian children.
AboShabaan HS et al.
Molecular Biology 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
Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy.
Singh HR et al.
Biorxiv : the Preprint Server for Biology, 2025
Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.
Watanabe A et al.
Kidney International Reports, 2024
A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ et al.
Nature Genetics, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Coexistence of Fabry Disease and Membranous Nephropathy: A Case Report.
Jin Y et al.
Iranian Journal of Kidney Diseases, 2024
The dominant findings of a recessive man: from Mendel's kid pea to kidney.
Tory K
Pediatric Nephrology (berlin, Germany), 2024
Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?
Mitrotti A et al.
Pediatric Nephrology (berlin, Germany), 2024
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
Wilke MVMB et al.
Orphanet Journal of Rare Diseases, 2024
Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.
Lim E et al.
Kidney International Reports, 2024
Ibrutinib-associated focal segmental glomerulosclerosis and the impact of podocin mutations in chronic lymphocytic leukemia.
Czogalla J et al.
Kidney International, 2024
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J et al.
Kidney International Reports, 2024
Inherited non-FGF23-mediated phosphaturic disorders: A kidney-centric review.
Walker E et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2024
Genome-wide association studies reconstructing chronic kidney disease.
Fountoglou A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.
Mitrotti A et al.
International Journal of Molecular Sciences, 2024
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
Case report: Novel ACTN4 variant of uncertain significance in a pediatric case of steroid-resistant nephrotic syndrome requesting kidney transplantation.
Alarcón I et al.
Frontiers in Nephrology, 2024
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin.
Jankowski M et al.
Human Mutation, 2024
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Tato AM et al.
Clinical Kidney Journal, 2023
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS et al.
Molecular Genetics & Genomic Medicine, 2023
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C et al.
Genes, 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
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families.
Groen In 't Woud S et al.
Kidney Medicine, 2023
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution.
Vaisitti T et al.
Human Genomics, 2023
Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome.
Miura K et al.
Pediatric Nephrology (berlin, Germany), 2023
Genetic nephrotic syndrome associated with disturbed function of glomerular slit membrane and podocyte cytoskeleton in children.
Pitekova B et al.
Clinical and Experimental Nephrology, 2023
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Thomasová D et al.
Frontiers in Medicine, 2023