Ania Koziell

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

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

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

Ania Koziell · Human Molecular Genetics · 2002 · 299 citations · Full text

Glomerular Disease, Genetics, Non-finnish Cnf Patients +18

The Human Glomerular Podocyte Is a Novel Target for Insulin Action

Richard J. Coward, Gavin I. Welsh, Jing Yang et al. · Diabetes · 2005 · 289 citations · Full text

Insulin Signaling, Renal Function, Novel Target +19

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

Agnieszka Bierżyńska, Hugh J. McCarthy, Katrina Soderquest et al. · Kidney International · 2017 · 274 citations · Full text

Glomerulonephritis, Urology, Renal Disease +13

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

Hugh J. McCarthy, Agnieszka Bierżyńska, M. Wherlock et al. · Clinical Journal of the American Society of Nephrology · 2013 · 172 citations