A. Koziell

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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

The molecular basis of childhood nephrotic syndrome.

A. Koziell, 2007 .

The human glomerular podocyte is a novel target for insulin action.

J. Tavaré, S. Satchell, M. Saleem, 2005, Diabetes.

Response to First Course of Intensified Immunosuppression in Genetically-Stratified Steroid Resistant Nephrotic Syndrome.

M. Saleem, G. Welsh, A. Koziell, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

S. Levy, M. Simpson, F. Hildebrandt, 2015, American journal of human genetics.

MAGI2 Mutations Cause Congenital Nephrotic Syndrome.

Maggie Williams, Agnieszka Bierzynska, Elizabeth Colby, 2017, Journal of the American Society of Nephrology : JASN.

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

P. Scambler, K. Tryggvason, V. Grech, 2002, Human molecular genetics.

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

M. Ognjanović, R. Gilbert, M. Saleem, 2013, Clinical journal of the American Society of Nephrology : CJASN.

Germline selection shapes human mitochondrial DNA diversity

David L. Bennett, Kenneth G. C. Smith, Katherine R. Smith, 2019, Science.

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

D. Milford, R. Gilbert, E. Frew, 2014, Trials.

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

M. Zacchia, P. Byers, M. Gregory, 2021, European Journal of Human Genetics.

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Graham M Lord, M. Simpson, M. Ognjanović, 2017, Kidney international.

Title : Germline selection shapes the landscape of human mitochondrial DNA

Kenneth G. C. Smith, Katherine R. Smith, K. Stirrups, 2019 .

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?

P. Scambler, P. Hindmarsh, E. Charmandari, 2000, Clinical endocrinology.

Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCT.

D. Milford, R. Gilbert, E. Frew, 2022, Health technology assessment.

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

G. Mollet, O. Gribouval, C. Antignac, 2019, American journal of human genetics.

Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome

Agnieszka, G. Mollet, O. Gribouval, 2018 .

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

C. Penkett, K. Megy, M. Saleem, 2022, Pediatric Nephrology.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

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

D. Milford, M. Eisenhut, A. Webb, 2022, PharmacoEconomics - Open.

Vincristine and focal segmental sclerosis: do we need a multicentre trial?

S. Hulton, A. Koziell, M. Dillon, 1998, Pediatric Nephrology.

Activation of canonical Wnt signaling meets with podocytopathy.

A. Waters, A. Koziell, 2009, Journal of the American Society of Nephrology : JASN.

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

Michael J. Randles, A. Woolf, B. Kerr, 2015, Pediatric Nephrology.

LDL-apheresis-induced remission of focal segmental glomerulosclerosis recurrence in pediatric renal transplant recipients

D. Hooper, J. Zaritsky, Daryl M. Okamura, 2019, Pediatric Nephrology.

Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes.

P. Scambler, T. Barratt, R. Grundy, 1999, American journal of human genetics.

Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome

Carmen Bugarin Diz, D. Gale, M. Saleem, 2022, Pediatric Nephrology.

Basic science meets clinical medicine: identification of a CD2AP-deficient patient.

A. Shaw, S. Akilesh, A. Koziell, 2007, Kidney international.

Genotype / phenotype correlations of NPHS 1 and NPHS 2 mutations in nephrotic syndrome advocate a functional interrelationship in glomerular filtration

P. Scambler, K. Tryggvason, V. Grech, 2002 .

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

P Scambler, P. Scambler, M. Gessler, 1998, Human molecular genetics.

Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?

R. Grundy, A. Koziell, 1999, Archives of disease in childhood.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

V. Jobanputra, D. Goldstein, S. Mane, 2021, American journal of human genetics.

FAT1 mutations cause a glomerulotubular nephropathy

T. Chan, R. Lifton, D. Milford, 2016, Nature Communications.

Genes and Podocytes – New Insights into Mechanisms of Podocytopathy

A. Koziell, Katrina Soderquest, Agnieszka Bierzynska, 2014, Front. Endocrinol..

Nephrin Is Critical for the Action of Insulin on Human Glomerular Podocytes

J. Tavaré, M. Saleem, P. Mathieson, 2007, Diabetes.

AB0013 Glomerular IL-4 Signaling Mediates Foot Process Effacement and Proteinuria in Nephrotic Syndromes

J. Hodgin, S. Akilesh, J. Miner, 2016 .

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Nephrin deficiency activates NF-kappaB and promotes glomerular injury.

P. Scambler, M. Serrano, M. Diaz-Meco, 2009, Journal of the American Society of Nephrology : JASN.

Acute Presentation and Persistent Glomerulonephritis Following Streptococcal Infection in a Patient With Heterozygous Complement Factor H–Related Protein 5 Deficiency

T. Aitman, E. Goicoechea de Jorge, K. Vernon, 2012, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Nephrin Deficiency Activates NF- B and Promotes Glomerular Injury

P. Scambler, M. Serrano, M. Diaz-Meco, 2009 .

Congenital nephrotic syndrome

V. Iyer, A. Koziell, P. Ramani, 2001, Pediatric Nephrology.

Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome

D. Milford, R. Gilbert, E. Frew, 2021, JAMA pediatrics.

Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence.

C. Antignac, M. Saleem, R. Coward, 2014, Journal of the American Society of Nephrology : JASN.

Guidelines for Genetic Testing and Management of Alport Syndrome.

M. Zacchia, P. Byers, M. Gregory, 2021, Clinical journal of the American Society of Nephrology : CJASN.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Does the sympathetic nervous system influence sinus arrhythmia in man? Evidence from combined autonomic blockade.

A. Koziell, C. Oliver, S. Smith, 1984, The Journal of physiology.

B cell-derived IL-4 acts on podocytes to induce proteinuria and foot process effacement.

Mark J. Miller, M. Miller, J. Hodgin, 2017, JCI insight.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Sri V. V. Deevi, Courtney E. French, K. Stirrups, 2019, Intensive Care Medicine.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.