Activation of Canonical Wnt Signaling Meets with Podocytopathy

Por Waters, Aoife, Koziell, Ania
Publicado em 2009

aHUS caused by complement dysregulation: new therapies on the horizon

Por Waters, Aoife M., Licht, Christoph
Publicado em 2010

Erratum to: aHUS caused by complement dysregulation: new therapies on the horizon

Por Waters, Aoife M., Licht, Christoph
Publicado no Pediatr Nephrol (2012)

Ciliopathies: an expanding disease spectrum

Por Waters, Aoife M., Beales, Philip L.
Publicado em 2011

The consensus studysquamous cell carcinoma of the oropharynx: late phase clinical trials; core outcomes

Por Waters, Aoife, Tudur-Smith, Catrin, Young, Bridget, Jones, Terry M
Publicado em 2013

The CONSENSUS study: protocol for a mixed methods study to establish which outcomes should be included in a core outcome set for oropharyngeal cancer

Por Waters, Aoife MI, Smith, Catrin Tudur, Young, Bridget, Jones, Terry M
Publicado em 2014

The CONSENSUS Study: Preliminary results of a mixed methods study to develop a core outcome set for late phase clinical trials in Oropharyngeal Cancer

Por Waters, Aoife M I, Tudur Smith, Catrin, Young, Bridget, Jones, Terry M
Publicado no Trials (2015)

Ectopic Notch Activation in Developing Podocytes Causes Glomerulosclerosis

Por Waters, Aoife M., Wu, Megan Y.J., Onay, Tuncer, Scutaru, Jacob, Liu, Ju, Lobe, Corrinne G., Quaggin, Susan E., Piscione, Tino D.
Publicado em 2008

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

Por Chesher, Douglas, Oddy, Michael, Darbar, Ulpee, Sayal, Parag, Casey, Adrian, Ryan, Aidan, Sechi, Annalisa, Simister, Charlotte, Waters, Aoife, Wedatilake, Yehani, Lachmann, Robin H., Murphy, Elaine
Publicado no J Inherit Metab Dis (2018)

Notch Promotes Dynamin-Dependent Endocytosis of Nephrin

Por Waters, Aoife M., Wu, Megan Yi Jun, Huang, Yi-Wei, Liu, Guang Ying, Holmyard, Doug, Onay, Tuncer, Jones, Nina, Egan, Sean E., Robinson, Lisa A., Piscione, Tino D.
Publicado em 2012

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years

Por Kari, Jameela A., Montini, Giovanni, Bockenhauer, Detlef, Brennan, Eileen, Rees, Lesley, Trompeter, Richard S., Tullus, Kjell, van’t Hoff, William, Waters, Aoife, Ashton, Emma, Lench, Nicholas, Sebire, Neil J., Marks, Stephen D.
Publicado em 2014

Activation of podocyte Notch mediates early Wt1 glomerulopathy

Por 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.
Publicado no Kidney Int (2018)

Childhood Hemolytic Uremic Syndrome, United Kingdom and Ireland

Por Lynn, Richard M., O'Brien, Sarah J., Taylor, C. Mark, Adak, Goutam K., Chart, Henrik, Cheasty, Tom, Coia, John E., Gillespie, Iain A., Locking, Mary E., Reilly, William J., Smith, Henry R., Waters, Aoife, Willshaw, Geraldine A.
Publicado em 2005

Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism

Por 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
Publicado no J Clin Endocrinol Metab (2019)

Integrin α(3) Mutations with Kidney, Lung, and Skin Disease

Por Has, Cristina, Spartà, Giuseppina, Kiritsi, Dimitra, Weibel, Lisa, Moeller, Alexander, Vega-Warner, Virginia, Waters, Aoife, He, Yinghong, Anikster, Yair, Esser, Philipp, Straub, Beate K., Hausser, Ingrid, Bockenhauer, Detlef, Dekel, Benjamin, Hildebrandt, Friedhelm, Bruckner-Tuderman, Leena, Laube, Guido F.
Publicado em 2012

Mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Por Rooryck, Caroline, Diaz-Font, Anna, Osborn, Daniel P.S., Chabchoub, Elyes, Hernandez-Hernandez, Victor, Shamseldin, Hanan, Kenny, Joanna, Waters, Aoife, Jenkins, Dagan, Kaissi, Ali Al, Leal, Gabriela F., Dallapiccola, Bruno, Carnevale, Franco, Bitner-Glindzicz, Maria, Lees, Melissa, Hennekam, Raoul, Stanier, Philip, Burns, Alan J., Peeters, Hilde, Alkuraya, Fowzan S, Beales, Philip L.
Publicado em 2011

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

Por Lescai, Francesco, Bonfiglio, Silvia, Bacchelli, Chiara, Chanudet, Estelle, Waters, Aoife, Sisodiya, Sanjay M., Kasperavičiūtė, Dalia, Williams, Julie, Harold, Denise, Hardy, John, Kleta, Robert, Cirak, Sebahattin, Williams, Richard, Achermann, John C., Anderson, John, Kelsell, David, Vulliamy, Tom, Houlden, Henry, Wood, Nicholas, Sheerin, Una, Tonini, Gian Paolo, Mackay, Donna, Hussain, Khalid, Sowden, Jane, Kinsler, Veronica, Osinska, Justyna, Brooks, Tony, Hubank, Mike, Beales, Philip, Stupka, Elia
Publicado em 2012

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

Por 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
Publicado no J Med Genet (2015)

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

Por Dufek, Stephanie, Cheshire, Chris, Levine, Adam P., Trompeter, Richard S., Issler, Naomi, Stubbs, Matthew, Mozere, Monika, Gupta, Sanjana, Klootwijk, Enriko, Patel, Vaksha, Hothi, Daljit, Waters, Aoife, Webb, Hazel, Tullus, Kjell, Jenkins, Lucy, Godinho, Lighta, Levtchenko, Elena, Wetzels, Jack, Knoers, Nine, Teeninga, Nynke, Nauta, Jeroen, Shalaby, Mohamed, Eldesoky, Sherif, Kari, Jameela A., Thalgahagoda, Shenal, Ranawaka, Randula, Abeyagunawardena, Asiri, Adeyemo, Adebowale, Kristiansen, Mark, Gbadegesin, Rasheed, Webb, Nicholas J., Gale, Daniel P., Stanescu, Horia C., Kleta, Robert, Bockenhauer, Detlef
Publicado no J Am Soc Nephrol (2019)

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Por Balogh, Eszter, Chandler, Jennifer C., Varga, Máté, Tahoun, Mona, Menyhárd, Dóra K., Schay, Gusztáv, Goncalves, Tomas, Hamar, Renáta, Légrádi, Regina, Szekeres, Ákos, Gribouval, Olivier, Kleta, Robert, Stanescu, Horia, Bockenhauer, Detlef, Kerti, Andrea, Williams, Hywel, Kinsler, Veronica, Di, Wei-Li, Curtis, David, Kolatsi-Joannou, Maria, Hammid, Hafsa, Szőcs, Anna, Perczel, Kristóf, Maka, Erika, Toldi, Gergely, Sava, Florentina, Arrondel, Christelle, Kardos, Magdolna, Fintha, Attila, Hossain, Ahmed, D’Arco, Felipe, Kaliakatsos, Mario, Koeglmeier, Jutta, Mifsud, William, Moosajee, Mariya, Faro, Ana, Jávorszky, Eszter, Rudas, Gábor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Götze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, François, Mollet, Géraldine, Motameny, Susanne, Thiele, Holger, Dorval, Guillaume, Nürnberg, Peter, Perczel, András, Szabó, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M., Tory, Kálmán
Publicado no Proc Natl Acad Sci U S A (2020)