Dr Ania Koziell MD PhD Academics Reader in Renal Medicine and Genomics Contact details ania.koziell@kcl.ac.uk
Quantifying association of early proteinuria and estimated glomerular filtration rate changes with long-term kidney failure in C3 glomerulopathy and immune-complex membranoproliferative glomerulonephritis using the United Kingdom RaDaR Registry Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1) National Unified Renal Translational Research Enterprise: Idiopathic Nephrotic Syndrome (NURTuRE-INS) study Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome – a population-based analysis of their significance Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCT Economic Evaluation of Using Daily Prednisolone versus Placebo at the Time of an Upper Respiratory Tract Infection for the Management of Children with Steroid-Sensitive Nephrotic Syndrome: A Model-Based Analysis Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model Guidelines for Genetic Testing and Management of Alport Syndrome GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis Evaluation of Daily Low-Dose Prednisolone during Upper Respiratory Tract Infection to Prevent Relapse in Children with Relapsing Steroid-Sensitive Nephrotic Syndrome: The PREDNOS 2 Randomized Clinical Trial Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic Syndrome Whole-genome sequencing of a sporadic primary immunodeficiency cohort Whole-genome sequencing of patients with rare diseases in a national health system Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia Germline selection shapes human mitochondrial DNA diversity LDL-apheresis-induced remission of focal segmental glomerulosclerosis recurrence in pediatric renal transplant recipients TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data B cell-derived IL-4 acts on podocytes to induce proteinuria and foot process effacement Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management MAGI2 Mutations Cause Congenital Nephrotic Syndrome Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension FAT1 mutations cause a glomerulotubular nephropathy Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome Genes and podocytes - new insights and perspectives on mechanisms of podocytopathy Initial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant Recurrence Short course daily prednisolone therapy during an upper respiratory tract infection in children with relapsing steroid-sensitive nephrotic syndrome (PREDNOS 2): protocol for a randomised controlled trial Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome Acute presentation and persistent glomerulonephritis following streptococcal infection in a patient with heterozygous complement factor h-related protein 5 deficiency Activation of Canonical Wnt Signaling Meets with Podocytopathy Nephrin deficiency activates NF-kappaB and promotes glomerular injury Basic science meets clinical medicine: identification of a CD2AP-deficient patient Nephrin is critical for the action of insulin on human glomerular podocytes The human glomerular podocyte is a novel target for insulin action Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration Congenital nephrotic syndrome Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes Frasier and Denys-Drash syndromes: different disorders or part of a spectrum? Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms Vincristine and focal segmental sclerosis: do we need a multicentre trial? Witchdoctors in Africa View all publications
Description Teacher on the following courses: Medical and Molecular Genetics Birth defects SSC Genomics for Clinicians (including Nurses and midwives) Participant in HEE courses and GENotes Paediatric Nephrology for trainees