Ciliopathies: an expanding disease spectrum von Waters, Aoife M., Beales, Philip L.

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Activation of podocyte Notch mediates early Wt1 glomerulopathy von Asfahani, Rowan I., Tahoun, Mona M., Miller-Hodges, Eve V., Bellerby, Jack, Virasami, Alex K., Sampson, Robert D., Moulding, Dale, Sebire, Neil J., Hohenstein, Peter, Scambler, Peter J., Waters, Aoife M.

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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes von Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L

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Ectopic Notch Activation in Developing Podocytes Causes Glomerulosclerosis von WATERS, Aoife M, WU, Megan Y. J, ONAY, Tuncer, SCUTARU, Jacob, JU LIU, LOBE, Corrinne G, QUAGGIN, Susan E, PISCIONE, Tino D

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Hemolytic Uremic Syndrome Associated with Invasive Pneumococcal Disease: The United Kingdom Experience von Waters, Aoife M., MRCPI, Kerecuk, Larissa, MRCPCH, Luk, David, MRCPCH, Haq, Mushfequr R., FRCPCH, Fitzpatrick, Margaret M., FRCPCH, Gilbert, Rodney D., FRCPCH, Inward, Carol, FRCPCH, Jones, Caroline, MRCPCH, Pichon, Bruno, PhD, Reid, Christopher, FRCPCH, Slack, Mary P.E., FRCPath, Van’t Hoff, William, FRCPCH, Dillon, Michael J., FRCPCH, Taylor, C.M., FRCPCH, Tullus, Kjell, FRCPCH

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Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment von Quinlan, Catherine, Guegan, Katie, Offiah, Amaka, Neill, Richard O’, Hiorns, Melanie P., Ellard, Sian, Bockenhauer, Detlef, Hoff, William Van’t, Waters, Aoife M.

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aHUS caused by complement dysregulation: new therapies on the horizon von Waters, Aoife M., Licht, Christoph

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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes von Van De Weghe, Julie C., Giordano, Jessica L., Mathijssen, Inge B., Mojarrad, Majid, Lugtenberg, Dorien, Miller, Caitlin V., Dempsey, Jennifer C., Mohajeri, Mahsa Sadat Asl, van Leeuwen, Elizabeth, Pajkrt, Eva, Klaver, Caroline C.W., Houlden, Henry, Eslahi, Atieh, Waters, Aoife M., Bamshad, Michael J., Nickerson, Deborah A., Aggarwal, Vimla S., de Vries, Bert B.A., Maroofian, Reza, Doherty, Dan

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A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome von Kuzmuk, Valeryia, Pranke, Iwona, Rollason, Ruth, Butler, Matthew, Ding, Wen Y., Beesley, Matthew, Waters, Aoife M., Coward, Richard J., Sessions, Richard, Tuffin, Jack, Foster, Rebecca R., Mollet, Géraldine, Antignac, Corinne, Edelman, Aleksander, Welsh, Gavin I., Saleem, Moin A.

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Malformations in the Murine Kidney Caused by Loss of CENP‐F Function von Haley, Chanell O., Waters, Aoife M., Bader, D.M.

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Single‐cell transcriptomics identifies aberrant glomerular angiogenic signalling in the early stages of WT1 kidney disease von Chandler, Jennifer C, Jafree, Daniyal J, Malik, Saif, Pomeranz, Gideon, Ball, Mary, Kolatsi‐Joannou, Maria, Piapi, Alice, Mason, William J, Benest, Andrew V, Bates, David O, Letunovska, Aleksandra, Al‐Saadi, Reem, Rabant, Marion, Boyer, Olivia, Pritchard‐Jones, Kathy, Winyard, Paul J, Mason, Andrew S, Woolf, Adrian S, Waters, Aoife M, Long, David A

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Association of Histologic Parameters with Outcome in C3 Glomerulopathy and Idiopathic Immunoglobulin-Associated Membranoproliferative Glomerulonephritis von Lomax-Browne, Hannah J, Medjeral-Thomas, Nicholas R, Barbour, Sean J, Gisby, Jack, Han, Heedeok, Bomback, Andrew S, Fervenza, Fernando C, Cairns, Thomas H, Szydlo, Richard, Tan, Sven-Jean, Marks, Stephen D, Waters, Aoife M, Appel, Gerald B, D'Agati, Vivette D, Sethi, Sanjeev, Nast, Cynthia C, Bajema, Ingeborg, Alpers, Charles E, Fogo, Agnes B, Licht, Christoph, Fakhouri, Fadi, Cattran, Daniel C, Peters, James E, Cook, H Terence, Pickering, Matthew C

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Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism von Tahoun, Mona, Chandler, Jennifer C, Ashton, Emma, Haston, Scott, Hannan, Athia, Kim, Ji Soo, D’Arco, Felipe, Bockenhauer, D, Anderson, G, Lin, Meei-Hua, Marzouk, Salah, Saied, Marwa H, Miner, Jeffrey H, Dattani, Mehul T, Waters, Aoife M

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Tubulointerstitial nephritis as an extraintestinal manifestation of Crohn's disease von Waters, Aoife M, Zachos, Mary, Herzenberg, Andrew M, Harvey, Elizabeth, Rosenblum, Norman D

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First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood von Alstrup, Morten, Marks, Stephen D., Ek, Jakob, Buchvald, Frederik, Lund, Thomas Kromann, Perch, Michael, Waters, Aoife M., Mogensen, Mette, Jelsig, Anne Marie

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Erratum to: aHUS caused by complement dysregulation: new therapies on the horizon von Waters, Aoife M., Licht, Christoph

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Notch Promotes Dynamin-Dependent Endocytosis of Nephrin von WATERS, Aoife M, YI JUN WU, Megan, HUANG, Yi-Wei, GUANG YING LIU, HOLMYARD, Doug, ONAY, Tuncer, JONES, Nina, EGAN, Sean E, ROBINSON, Lisa A, PISCIONE, Tino D

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Severe atypical HUS caused by CFH S1191L—case presentation and review of treatment options von De, Sudarsana, Waters, Aoife M., Segal, Audrey O., Trautmann, Agnes, Harvey, Elizabeth A., Licht, Christoph

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A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis von Zivony-Elboum, Yifat, Westbroek, Wendy, Kfir, Nehama, Savitzki, David, Shoval, Yishay, Bloom, Assnat, Rod, Raya, Khayat, Morad, Gross, Bella, Samri, Walid, Cohen, Hector, Sonkin, Vadim, Freidman, Tatiana, Geiger, Dan, Fattal-Valevski, Aviva, Anikster, Yair, Waters, Aoife M, Kleta, Robert, Falik-Zaccai, Tzipora C

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Using Nanocomplexes to Deliver Therapies for Glomerular Disease: FR-PO332 von Malik, Saif N., Chandler, Jennifer C., Maeshima, Ruhina, Waters, Aoife M., Hart, Stephen L., Kalber, Tammy L., Long, David A.

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