Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model
Authors:
Agnieszka Bierzynska, Katherine Bull, Sara Miellet, Philip Dean, Chris Neal, Elizabeth Colby, Hugh J McCarthy, Shivaram Hegde, Manish D Sinha, Carmen Bugarin Diz, Kathleen Stirrups, Karyn Megy, Rutendo Mapeta, Chris Penkett, Sarah Marsh, Natalie Forrester, Maryam Afzal, Hannah Stark, Nihr BioResource, Maggie Williams, Gavin I Welsh, Ania B Koziell, Paul S Hartley and Moin A Saleem Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort
Authors:
Katie Wong, David Pitcher, Fiona Braddon, Lewis Downward, Retha Steenkamp, Nicholas Annear, Jonathan Barratt, Coralie Bingham, Richard J. Coward, Tina Chrysochou, David Game, Sian Griffin, Matt Hall, Sally Johnson, Durga Kanigicherla, Fiona Karet Frankl, David Kavanagh, Larissa Kerecuk, Eamonn R. Maher, Shabbir Moochhala, Jenny Pinney, John A. Sayer, Roslyn Simms, Smeeta Sinha, Shalabh Srivastava, Frederick W. K. Tam, A. Neil Turner, Stephen B. Walsh, Aoife Waters, Patricia Wilson, Edwin Wong, RaDaR consortium, Karla Therese L. Sy, Kui Huang, Jamie Ye, Dorothea Nitsch, Moin Saleem, Detlef Bockenhauer, Kate Bramham and Daniel P. Gale C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes
Authors:
Edwin K. S. Wong, Kevin J. Marchbank, Hannah Lomax-Browne, Isabel Y. Pappworth, Harriet Denton, Katie Cooke, Sophie Ward, Amy Claire McLoughlin, Grant Richardson, Valerie Wilson, Claire L. Harris, B. Paul Morgan, Svetlana Hakobyan, Paul McAlinden, Daniel P. Gale, Heather Maxwell, Martin Christian, Roger Malcomson, Timothy H. J. Goodship, Stephen D. Marks, Matthew C. Pickering, David Kavanagh, H. Terence Cook and Sally A. Johnson Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome
Authors:
Hugh J. McCarthy, Agnieszka Bierzynska, Matt Wherlock, Milos Ognjanovic, Larissa Kerecuk, Shivaram Hegde, Sally Feather, Rodney D. Gilbert, Leah Krischock, Caroline Jones, Manish D. Sinha, Nicholas J. A. Webb, Martin Christian, Margaret M. Williams, Stephen Marks, Anja Koziell, Gavin I. Welsh and Moin A. Saleem Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management
Authors:
Agnieszka Bierzynska, Hugh McCarthy, Katrina Soderquest, Ethan Sen, Elizabeth Colby, Wen Ding, Marwa Nabhan, Larissa Kerecuk, Shivram Hegde, David Hughes, Stephen Marks, Sally Feather, Caroline Jones, Nicholas Webb, Milos Ognjanovic, Martin Christian, Rodney Gilbert, Manish Sinha, Graham Lord, Michael Simpson, Ania Koziell, Gavin Welsh and Moin Saleem