Associated Papers
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
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Birch CL et al.
Journal of Translational Medicine, 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
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.
Yu K et al.
Blood Advances, 2024
Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome.
Chen S et al.
Frontiers in Genetics, 2024
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Tato AM et al.
Clinical Kidney Journal, 2023
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Kidney International Reports, 2023
The Potential Usefulness of the Expanded Carrier Screening to Identify Hereditary Genetic Diseases: A Case Report from Real-World Data.
Veneruso I et al.
Genes, 2023
The Phenotypic Spectrum of COL4A3 Heterozygotes.
Solanki KV et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A et al.
Human Molecular Genetics, 2023
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
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 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
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease.
Sienes Bailo P et al.
Advances in Laboratory Medicine, 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
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.
Lazaro-Guevara J et al.
American Journal of Nephrology, 2021
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.
Lepori N et al.
Clinical Kidney Journal, 2018
Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis.
Braunisch MC et al.
Frontiers in Pediatrics, 2018
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
Malone AF et al.
Kidney International, 2014
Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome.
Miner JH
Kidney International, 2014
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Storey H et al.
Journal of the American Society of Nephrology : Jasn, 2013
Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor.
Londin ER et al.
Bmc Genomics, 2011
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
Heidet L et al.
Journal of the American Society of Nephrology : Jasn, 2001
Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome.
Savige J et al.
Ophthalmic Genetics, 0
Genomics Integration Into Nephrology Practice.
Pinto E Vairo F et al.
Kidney Medicine, 0