Deposit your research

• Open Access
• About UCL Discovery
• UCL Discovery Plus
• REF and open access
• UCL Press
• UCL e-theses guidelines
• Statistics
• FAQs
• Notices and policies
• Contact us

Browse by UCL people

Export as ASCII CitationBibTeXEndNoteHTML CitationMultiline CSVObject IDsRDF+N-TriplesRDF+N3RDF+XMLReferReference Manager

Atom RSS 1.0 RSS 2.0

Group by: Type | Date

Jump to: 2025 | 2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2010 | 2009

Number of items: 125.

2025

Bockenhauer, Detlef; Sadeghi-Alavijeh, Omid; Gale, Daniel P; (2025) Phosphate transporters and avoiding the prosecutor’s fallacy. Kidney International , 107 (4) p. 757. 10.1016/j.kint.2025.01.001.

Cipriani, V; Vestito, L; Magavern, EF; Jacobsen, JOB; Arno, G; Behr, ER; Benson, KA; ... Smedley, D; + view all Cipriani, V; Vestito, L; Magavern, EF; Jacobsen, JOB; Arno, G; Behr, ER; Benson, KA; Bertoli, M; Bockenhauer, D; Bowl, MR; Burley, K; Chan, LF; Chinnery, P; Conlon, PJ; Costa, MA; Davidson, AE; Dawson, SJ; Elhassan, EAE; Flanagan, SE; Futema, M; Gale, DP; García-Ruiz, S; Corcia, CG; Griffin, HR; Hambleton, S; Hicks, AR; Houlden, H; Houlston, RS; Howles, SA; Kleta, R; Lekkerkerker, I; Lin, S; Liskova, P; Mitchison, HH; Morsy, H; Mumford, AD; Newman, WG; Neatu, R; O’Toole, EA; Ong, ACM; Pagnamenta, AT; Rahman, S; Rajan, N; Robinson, PN; Ryten, M; Sadeghi-Alavijeh, O; Sayer, JA; Shovlin, CL; Taylor, JC; Teltsh, O; Tomlinson, I; Tucci, A; Turnbull, C; van Eerde, AM; Ware, JS; Watts, LM; Webster, AR; Westbury, SK; Zheng, SL; Caulfield, M; Smedley, D; - view fewer (2025) Rare disease gene association discovery in the 100,000 Genomes Project. Nature 10.1038/s41586-025-08623-w. (In press).

Claus, Laura R; Snoek, Rozemarijn; Faber, Siebren; Roskothen-Shevchuk, Aurelius JC; Sendino Garví, Elena; Peters, Edith DJ; Savelberg, Sanne MC; ... Van Eerde, Albertien M; + view all Claus, Laura R; Snoek, Rozemarijn; Faber, Siebren; Roskothen-Shevchuk, Aurelius JC; Sendino Garví, Elena; Peters, Edith DJ; Savelberg, Sanne MC; Duran, Karen; van der Zwaag, Bert; Nguyen, Tri Q; Broekhuizen, Roel; Brummelhuis, Walter J; Rookmaaker, Maarten; Van der Veen, Suzanne W; Elferink, Martin G; Karras, Alexandre; Raymond, Laure; Mousseaux, Cyril; Sadeghi-Alavijeh, Omid; Sayer, John A; Olinger, Eric; Neatu, Ruxandra; Klämbt, Verena; Stokman, Marijn F; Knoers, Nine VAM; Tessadori, Federico; Gale, Daniel P; Boldt, Karsten; Ueffing, Marius; Slaats, Gisela G; Roepman, Ronald; Hildebrandt, Friedhelm; Mesnard, Laurent; Van Haaften, Gijs; Van Eerde, Albertien M; - view fewer (2025) Biallelic TMEM72 variants in patients with a nephronophthisis-like phenotype. Nephron 10.1159/000549598. (In press).

Elhassan, Elhussein AE; Collins, Kane E; Heneghan, Sophia; Gilbert, Edmund; Yang, Hana; Senum, Sarah R; Schauer, Rachel S; ... Conlon, Peter J; + view all Elhassan, Elhussein AE; Collins, Kane E; Heneghan, Sophia; Gilbert, Edmund; Yang, Hana; Senum, Sarah R; Schauer, Rachel S; Elbarougy, Doaa E; Madden, Stephen F; Murray, Susan L; Sadeghi-Alavijeh, Omid; Carmichael, Joshua; Gale, Daniel; Osman, Shohdan M; Kennedy, Claire; Griffin, Matthew D; Casserly, Liam; Moloney, Brona; O'Hara, Paul; Mallawaarachchi, Amali; Ciurli, Francesca; Genomics England Consortium, John C; Graziano, Claudio; Wolff, Constantin A; Schonauer, Ria; LaManna, Gaetano; Durand, Axelle; Limou, Sophie; Halbritter, Jan; Capelli, Irene; McCann, Emma; Harris, Peter C; Cavalleri, Gianpiero L; Benson, Katherine A; Conlon, Peter J; - view fewer (2025) The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease. Journal of Nephrology 10.1007/s40620-025-02211-x. (In press).

Fakhouri, Fadi; Bomback, Andrew S; Ariceta, Gema; Delmas, Yahsou; Dixon, Bradley P; Gale, Daniel P; Greenbaum, Larry A; ... VALIANT Trial Investigators Group; + view all Fakhouri, Fadi; Bomback, Andrew S; Ariceta, Gema; Delmas, Yahsou; Dixon, Bradley P; Gale, Daniel P; Greenbaum, Larry A; Han, Seung Hyeok; Isbel, Nicole; Le Quintrec, Moglie; Licht, Christoph; Mastrangelo, Antonio; Mizuno, Masashi; Neves de Holanda, Maria Izabel; Pickering, Matthew C; Remuzzi, Giuseppe; Van De Kar, Nicole; Vivarelli, Marina; Walker, Patrick D; Wallace, Dean; Zecher, Daniel; Francois, Cedric; Deschatelets, Pascal; Li, Li; Wang, Zhongshen; Abad-Franch, Lydia; Kinnman, Nils; López-Lázaro, Luis; Szamosi, Johan; Nester, Carla M; VALIANT Trial Investigators Group; - view fewer (2025) Trial of Pegcetacoplan in C3 Glomerulopathy and Immune-Complex MPGN. The New England Journal of Medicine , 393 (22) pp. 2210-2220. 10.1056/NEJMoa2501510.

Gale, Daniel P; (2025) From Data to Drug: The Translational Impact of RaDaR, the UK National Registry of Rare Kidney Diseases. Nephrology Dialysis Transplantation , Article gfaf227. 10.1093/ndt/gfaf227. (In press).

Gale, Daniel P; Chan, Melanie MY; Sadeghi-Alavijeh, Omid; (2025) The Genomic Infinity Loop. Journal of the American Society of Nephrology 10.1681/ASN.0000000922.

Gilbert, Rodney D; Al-Dakkak, Imad; Boothe, Clare; Cobb, Timothy E; Gale, Daniel P; Griffin, Sian; Marks, Stephen D; ... Sheerin, Neil S; + view all Gilbert, Rodney D; Al-Dakkak, Imad; Boothe, Clare; Cobb, Timothy E; Gale, Daniel P; Griffin, Sian; Marks, Stephen D; Scully, Marie; Shenoy, Mohan; Waters, Aoife; Sheerin, Neil S; - view fewer (2025) Demographics and baseline disease characteristics of UK patients within the global aHUS registry. BMC Nephrology , 26 (1) , Article 434. 10.1186/s12882-025-04321-x.

Gimpel, Charlotte; Fieuws, Steffen; Hofstetter, Jonas; Pitcher, David; Vanmeerbeek, Lotte; Haeberle, Stefanie; Dachy, Angélique; ... ADPedKD collaborators; + view all Gimpel, Charlotte; Fieuws, Steffen; Hofstetter, Jonas; Pitcher, David; Vanmeerbeek, Lotte; Haeberle, Stefanie; Dachy, Angélique; Massella, Laura; Seeman, Tomas; Ranchin, Bruno; Allard, Lise; Bacchetta, Justine; Bayrakci, Umut S; Becherucci, Francesca; Perez-Beltran, Victor; Besouw, Martine; Bialkevich, Hanna; Boyer, Olivia; Canpolat, Nur; Chauveau, Dominique; Çiçek, Neslihan; Conlon, Peter J; Devuyst, Olivier; Dossier, Claire; Fila, Marc; Flögelová, Hana; Godron-Dubrasquet, Astrid; Gokce, Ibrahim; Nguyen-Tang, Elsa Gonzalez; González-Rodríguez, Juan David; Guffens, Anne; Grandaliano, Giuseppe; Heidet, Laurence; Jankauskiene, Augustina; Levart, Tanja Kersnik; Knebelmann, Bertrand; König, Jens Christian; La Scola, Claudio; Leone, Valentina Fanny; Leroy, Valérie; Litwin, Mieczyslaw; Lucchetti, Laura; Lungu, Adrian C; Marzuillo, Pierluigi; Mastrangelo, Antonio; Miklaszewska, Monika; Montini, Giovanni; Nobili, François; Obrycki, Lukasz; Papizh, Svetlana; Paripović, Aleksandra; Paripović, Dušan; Peruzzi, Licia; Raes, Ann; Saygili, Seha; Spasojević, Brankica; Simon, Thomas; Szczepańska, Maria; Trepiccione, Francesco; Varda, Nataša Marčun; Westland, Rik; Yüksel, Selcuk; Lesniewska, Iga Zaluska-; Tenebaum, Julie; Mustafa, Reem; Mallett, Andrew J; Guay-Woodford, Lisa M; Gale, Daniel P; Böckenhauer, Detlef; Liebau, Max C; Schaefer, Franz; Mekahli, Djalila; RaDaR disease group; ERKReg; ADPedKD collaborators; - view fewer (2025) Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries. Kidney International 10.1016/j.kint.2025.02.026. (In press).

Gittus, M; Haley, H; Harris, T; Borrows, S; Padmanabhan, N; Gale, D; Simms, R; ... Ong, ACM; + view all Gittus, M; Haley, H; Harris, T; Borrows, S; Padmanabhan, N; Gale, D; Simms, R; Williams, T; Acquaye, A; Wong, A; Chan, M; Lee, E; Ong, ACM; - view fewer (2025) Commentary: Tolvaptan for Autosomal Dominant Polycystic Kidney Disease (ADPKD) - an update. BMC Nephrology , 26 , Article 79. 10.1186/s12882-025-03960-4.

Lovegrove, Catherine E; Goldsworthy, Michelle; Haley, Jeremy; Smelser, Diane; Gorvin, Caroline; Hannan, Fadil M; Mahajan, Anubha; ... Howles, Sarah A; + view all Lovegrove, Catherine E; Goldsworthy, Michelle; Haley, Jeremy; Smelser, Diane; Gorvin, Caroline; Hannan, Fadil M; Mahajan, Anubha; Suri, Mohnish; Sadeghi-Alavijeh, Omid; Moochhala, Shabbir H; Gale, Daniel P; Carey, David; Holmes, Michael V; Furniss, Dominic; Thakker, Rajesh V; Howles, Sarah A; - view fewer (2025) Genetic variants predisposing to an increased risk of kidney stone disease. The Journal of Clinical Investigation , 135 (15) , Article e186915. 10.1172/JCI186915.

Masoud, Sherry; Wong, Katie; Pitcher, David; Downward, Lewis; Proudfoot, Clare; Webb, Nicholas JA; RaDaR, Consortium; ... Gale, Daniel P; + view all Masoud, Sherry; Wong, Katie; Pitcher, David; Downward, Lewis; Proudfoot, Clare; Webb, Nicholas JA; RaDaR, Consortium; Wong, Edwin KS; Gale, Daniel P; - view fewer (2025) Quantifying association of early proteinuria and estimated glomerular filtration rate changes with long-term kidney failure in C3 glomerulopathy and immune-complex membranoproliferative glomerulonephritis using the United Kingdom RaDaR Registry. Kidney International , 108 (3) pp. 455-469. 10.1016/j.kint.2025.06.003.

Ozdemir, F; Oygar, DD; Behlul, A; Ataç, S; Bardak, S; Yükseliş, M; Papagregoriou, G; ... Gurkan, C; + view all Ozdemir, F; Oygar, DD; Behlul, A; Ataç, S; Bardak, S; Yükseliş, M; Papagregoriou, G; Malatras, A; Gale, DP; Neild, GH; Deltas, C; Gurkan, C; - view fewer (2025) Familial Kidney Disease Phenocopying Hypertensive Nephropathy. Glomerular Diseases , 5 (1) pp. 233-242. 10.1159/000546094.

Palagyi, A; Sengupta, A; Moorthy, M; Malik, C; Barratt, J; Devuyst, O; Ulasi, II; ... Jan, S; + view all Palagyi, A; Sengupta, A; Moorthy, M; Malik, C; Barratt, J; Devuyst, O; Ulasi, II; Gale, DP; Wang, S; Angell, B; Jha, V; Jan, S; - view fewer (2025) Systematic Scoping Review of Socioeconomic Burden and Associated Psychosocial Impact in Patients With Rare Kidney Diseases and Their Caregivers. Kidney International Reports , 10 (3) pp. 838-854. 10.1016/j.ekir.2024.12.005.

Pitcher, David; Braddon, Fiona; Hendry, Bruce; Mercer, Alex; Barratt, Jonathan; Steenkamp, Retha; Wong, Katie; ... Saleem, Moin A; + view all Pitcher, David; Braddon, Fiona; Hendry, Bruce; Mercer, Alex; Barratt, Jonathan; Steenkamp, Retha; Wong, Katie; Turner, A Neil; Gong, Wu; Gale, Daniel P; Saleem, Moin A; - view fewer (2025) Long-Term Outcomes in Nephrotic Syndrome by Kidney Biopsy Diagnosis and Proteinuria. Journal of the American Society of Nephrology 10.1681/ASN.0000000610. (In press).

Pitcher, David; Hendry, Bruce; Mercer, Alex; Barratt, Jonathan; Steenkamp, Retha; Wong, Katie; Turner, A Neil; ... Saleem, Moin A; + view all Pitcher, David; Hendry, Bruce; Mercer, Alex; Barratt, Jonathan; Steenkamp, Retha; Wong, Katie; Turner, A Neil; Gong, Wu; Gale, Daniel P; Saleem, Moin A; - view fewer (2025) Authors' Reply: Questions Regarding the Analysis of Long-Term Outcomes in Nephrotic Syndrome. Journal of the American Society of Nephrology 10.1681/ASN.0000000812. (In press).

Sadeghi-Alavijeh, Omid; Chan, Melanie MY; Stanescu, Horia; Gale, Daniel P; Bockenhauer, Detlef; (2025) 50 Shades of Risk: Population Studies and the Genetic Architecture of Kidney Diseases. Journal of the American Society of Nephrology 10.1681/ASN.0000000893. (In press).

Sadeghi-Alavijeh, Omid; Chan, Melanie MY; Tzoumkas, Konstantinos; Doctor, Gabriel T; Gale, Daniel P; (2025) Quantifying APOL1, Human Leukocyte Antigen, and Other Genetic Contributions to Unexplained Kidney Failure. American Journal of Kidney Diseases 10.1053/j.ajkd.2025.07.005. (In press).

2024

Angell, Blake; Wang, Siyuan; Gadsden, Thomas; Moorthy, Monica; Malik, Charu; Barratt, Jonathan; Devuyst, Olivier; ... Jan, Stephen; + view all Angell, Blake; Wang, Siyuan; Gadsden, Thomas; Moorthy, Monica; Malik, Charu; Barratt, Jonathan; Devuyst, Olivier; Ulasi, Ifeoma I; Gale, Daniel P; Sengupta, Agnivo; Palagyi, Anna; Jha, Vivekanand; Jan, Stephen; - view fewer (2024) Scoping Review of Economic Analyses of Rare Kidney Diseases. Kidney International Reports , 9 (12) pp. 3553-3569. 10.1016/j.ekir.2024.09.004.

Boeckhaus, Jan; Gale, Daniel P; Simon, James; Ding, Jie; Zhang, Yanqin; Bergmann, Carsten; Turner, A Neil; ... Gross, Oliver; + view all Boeckhaus, Jan; Gale, Daniel P; Simon, James; Ding, Jie; Zhang, Yanqin; Bergmann, Carsten; Turner, A Neil; Hall, Matthew; Sayer, John A; Srivastava, Shalabh; Kang, Hee Gyung; Cerkauskaite-Kerpauskiene, Agne; Gillion, Valentine; Claes, Kathleen J; Krueger, Bastian; de Fallois, Jonathan; Walden, Ulrike; Choi, Mira; Schueler, Markus; Mueller, Roman-Ulrich; Todorova, Polina; Hohenstein, Bernd; Zeisberg, Michael; Friede, Tim; Knebelmann, Bertrand; Halbritter, Jan; Gross, Oliver; - view fewer (2024) SGLT2-Inhibition in Patients With Alport Syndrome. Kidney International Reports , 9 (12) pp. 3490-3500. 10.1016/j.ekir.2024.09.014.

Chan, Melanie MY; Gale, Daniel P; (2024) Using genomics to understand severe COVID-19. Nephrology Dialysis Transplantation , 39 (5) pp. 731-734. 10.1093/ndt/gfad262.

Gale, Daniel P; Gross, Oliver; Wang, Fang; Esteban de la Rosa, Rafael Jose; Hall, Matthew; Sayer, John A; Appel, Gerald; ... Ding, Jie; + view all Gale, Daniel P; Gross, Oliver; Wang, Fang; Esteban de la Rosa, Rafael Jose; Hall, Matthew; Sayer, John A; Appel, Gerald; Hariri, Ali; Liu, Shiguang; Maski, Manish; Shen, Yuqian; Zhang, Qi; Iqbal, Sajida; Kowthalam, Madhurima Uppara; Lin, Julie; Ding, Jie; - view fewer (2024) A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome. Clinical Journal of the American Society of Nephrology (CJASN) , 19 (8) pp. 995-1004. 10.2215/CJN.0000000000000458.

Nester, Carla; Decker, Dima A; Meier, Matthias; Aslam, Shakil; Bomback, Andrew S; Caravaca-Fontán, Fernando; Cook, Terence H; ... Thompson, Aliza; + view all Nester, Carla; Decker, Dima A; Meier, Matthias; Aslam, Shakil; Bomback, Andrew S; Caravaca-Fontán, Fernando; Cook, Terence H; Feldman, David L; Fremeaux-Bacchi, Veronique; Gale, Daniel P; Gooch, Ann; Johnson, Sally; Licht, Christoph; Mathur, Mohit; Pickering, Matthew C; Praga, Manuel; Remuzzi, Giuseppe; Selvarajah, Viknesh; Smith, Richard J; Tabriziani, Hossein; Van de Kar, Nicole; Wang, Yaqin; Wong, Edwin; Mistry, Kirtida; Lim, Mark; Portillo, Cesia; Balogun, Seyi; Trachtman, Howard; Thompson, Aliza; - view fewer (2024) Developing Therapies for C3 Glomerulopathy: Report of the Kidney Health Initiative C3 Glomerulopathy Trial Endpoints Work Group. Clinical Journal of the American Society of Nephrology , 19 (9) pp. 1201-1208. 10.2215/CJN.0000000000000505.

Sadeghi-Alavijeh, Omid; Chan, Melanie My; Doctor, Gabriel T; Voinescu, Catalin D; Stuckey, Alexander; Kousathanas, Athanasios; Ho, Alexander T; ... Gale, Daniel P; + view all Sadeghi-Alavijeh, Omid; Chan, Melanie My; Doctor, Gabriel T; Voinescu, Catalin D; Stuckey, Alexander; Kousathanas, Athanasios; Ho, Alexander T; Stanescu, Horia C; Bockenhauer, Detlef; Sandford, Richard N; Levine, Adam P; Gale, Daniel P; - view fewer (2024) Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing. The Journal of Clinical Investigation (JCI) , Article e181467. 10.1172/JCI181467.

Torra, Roser; Lipska-Ziętkiewicz, Beata; Acke, Frederic; Antignac, Corinne; Becker, Jan Ulrich; Cornec-Le Gall, Emilie; van Eerde, Albertien M; ... ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders; + view all Torra, Roser; Lipska-Ziętkiewicz, Beata; Acke, Frederic; Antignac, Corinne; Becker, Jan Ulrich; Cornec-Le Gall, Emilie; van Eerde, Albertien M; Feltgen, Nicolas; Ferrari, Rosella; Gale, Daniel P; Gross, Oliver; Haeberle, Stefanie; Wlodkowski, Tanja; Heidet, Laurence; Lennon, Rachel; Massella, Laura; Topaloglu, Rezan; Pfau, Kristina; Del Prado Venegas Pizarro, Maria; Zealey, Heidi; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders; - view fewer (2024) Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN. Nephrology Dialysis Transplantation , Article gfae265. 10.1093/ndt/gfae265.

Vivarelli, Marina; Barratt, Jonathan; Beck Jr, Laurence H; Fakhouri, Fadi; Gale, Daniel P; Goicoechea de Jorge, Elena; Mosca, Marta; ... Smith, Richard JH; + view all Vivarelli, Marina; Barratt, Jonathan; Beck Jr, Laurence H; Fakhouri, Fadi; Gale, Daniel P; Goicoechea de Jorge, Elena; Mosca, Marta; Noris, Marina; Pickering, Matthew C; Susztak, Katalin; Thurman, Joshua M; Cheung, Michael; King, Jennifer M; Jadoul, Michel; Winkelmayer, Wolfgang C; Smith, Richard JH; - view fewer (2024) The role of complement in kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International , 106 (3) pp. 369-391. 10.1016/j.kint.2024.05.015.

Wong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Annear, Nicholas; Barratt, Jonathan; ... RaDaR consortium; + view all Wong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Annear, Nicholas; Barratt, Jonathan; Bingham, Coralie; Chrysochou, Constantina; Coward, Richard J; Game, David; Griffin, Sian; Hall, Matt; Johnson, Sally; Kanigicherla, Durga; Karet Frankl, Fiona; Kavanagh, David; Kerecuk, Larissa; Maher, Eamonn R; Moochhala, Shabbir; Pinney, Jenny; Sayer, John A; Simms, Roslyn; Sinha, Smeeta; Srivastava, Shalabh; Tam, Frederick WK; Turner, Andrew Neil; Walsh, Stephen B; Waters, Aoife; Wilson, Patricia; Wong, Edwin; Taylor, Christopher Mark; Nitsch, Dorothea; Saleem, Moin; Bockenhauer, Detlef; Bramham, Kate; Gale, Daniel P; RaDaR consortium; - view fewer (2024) Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet , 403 (10433) pp. 1279-1289. 10.1016/S0140-6736(23)02843-X.

Wong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Masoud, Sherry; Annear, Nicholas; ... Gale, Daniel P; + view all Wong, Katie; Pitcher, David; Braddon, Fiona; Downward, Lewis; Steenkamp, Retha; Masoud, Sherry; Annear, Nicholas; Barratt, Jonathan; Bingham, Coralie; Coward, Richard J; Chrysochou, Tina; Game, David; Griffin, Sian; Hall, Matt; Johnson, Sally; Kanigicherla, Durga; Frankl, Fiona Karet; Kavanagh, David; Kerecuk, Larissa; Maher, Eamonn R; Moochhala, Shabbir; Pinney, Jenny; Sayer, John A; Simms, Roslyn; Sinha, Smeeta; Srivastava, Shalabh; Tam, Frederick WK; Thomas, Kay; Turner, A Neil; Walsh, Stephen B; Waters, Aoife; Wilson, Patricia; Wong, Edwin; Sy, Karla Therese L; Huang, Kui; Ye, Jamie; Nitsch, Dorothea; Saleem, Moin; Bockenhauer, Detlef; Bramham, Kate; Gale, Daniel P; - view fewer (2024) Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort. Kidney International Reports , 9 (7) pp. 2067-2083. 10.1016/j.ekir.2024.04.062.

2023

Brocklebank, V; Walsh, PR; Smith-Jackson, K; Hallam, TM; Marchbank, KJ; Wilson, V; Bigirumurame, T; ... Bell, J; + view all Brocklebank, V; Walsh, PR; Smith-Jackson, K; Hallam, TM; Marchbank, KJ; Wilson, V; Bigirumurame, T; Dutt, T; Montgomery, EK; Malina, M; Wong, EKS; Johnson, S; Sheerin, NS; Kavanagh, D; Holt, R; Jones, C; Ashman, N; Fan, S; Forbes, S; Rajakariar, R; De Freitas, D; Magee, C; Hanko, J; Milford, D; Muorah, M; Howie, AJ; Baharani, J; Dasgupta, I; Roberts, R; MacDiarmaid-Gordon, A; Fry, A; Torpey, N; Waldron, M; Awan, A; Raftery, T; Ratcliffe, L; Vilar, E; Newman, J; Seviar, D; Marks, SD; Rees, L; Veligratli, F; Waters, A; Chowdhury, P; Pattison, J; Booth, C; Williams, N; Corbett, R; Amin, B; Pickering, M; Bramham, K; Al-Hamed, M; Hill, A; Mooney, A; Finlay, E; Newnham, A; Yadav, P; Kaur, A; Plant, N; Shenoy, M; Choong, LW; Helps, A; McLemon, R; Muniraju, T; Khan, I; Kidder, D; Padmanabhan, N; Cousland, Z; Price, J; Taylor, A; Jennings, C; Ahmad, S; Mead, P; Aslam, M; Bebb, C; Byrne, C; Ferraro, A; Christian, M; Evans, J; Kim, JJ; Lunn, A; Mallik, M; Mason, P; Mole, D; Craze, J; Sangala, N; Uniacke, M; McGregor, E; Lambie, S; Bhandary, N; Flossmann, O; Mohteshamzadeh, M; Abeyaratne, A; Bingham, C; Clissold, R; Smyth, L; Connolly, J; Reynolds, B; Neary, J; Bell, J; - view fewer (2023) Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study. Blood , 142 (16) pp. 1371-1386. 10.1182/blood.2022018833.

Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F; Jacobsen, Julius Ob; Arno, Gavin; Behr, Elijah R; Benson, Katherine A; ... Smedley, Damian; + view all Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F; Jacobsen, Julius Ob; Arno, Gavin; Behr, Elijah R; Benson, Katherine A; Bertoli, Marta; Bockenhauer, Detlef; Bowl, Michael R; Burley, Kate; Chan, Li F; Chinnery, Patrick; Conlon, Peter; Costa, Marcos; Davidson, Alice E; Dawson, Sally J; Elhassan, Elhussein; Flanagan, Sarah E; Futema, Marta; Gale, Daniel P; García-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R; Hambleton, Sophie; Hicks, Amy R; Houlden, Henry; Houlston, Richard S; Howles, Sarah A; Kleta, Robert; Lekkerkerker, Iris; Lin, Siying; Liskova, Petra; Mitchison, Hannah; Morsy, Heba; Mumford, Andrew D; Newman, William G; Neatu, Ruxandra; O'Toole, Edel A; Ong, Albert Cm; Pagnamenta, Alistair T; Rahman, Shamima; Rajan, Neil; Robinson, Peter N; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A; Shovlin, Claire L; Taylor, Jenny C; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; Turnbull, Clare; van Eerde, Albertien M; Ware, James S; Watts, Laura M; Webster, Andrew R; Westbury, Sarah K; Zheng, Sean L; Caulfield, Mark; Smedley, Damian; - view fewer (2023) Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data. medRxiv

Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Ziętkiewicz, Beata S; Hoefele, Julia; Flinter, Frances; ... Renieri, Alessandra; + view all Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Ziętkiewicz, Beata S; Hoefele, Julia; Flinter, Frances; Gale, Daniel P; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H; Massella, Laura; Ljubanović, Danica Galešić; Lennon, Rachel; Weinstock, Andrè B; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra; - view fewer (2023) Correction: The 2019 and 2021 International workshops on Alport syndrome. European Journal of Human Genetics 10.1038/s41431-023-01286-z.

Deltas, C; Papagregoriou, G; Louka, SF; Malatras, A; Flinter, F; Gale, DP; Gear, S; ... Turner, AN; + view all Deltas, C; Papagregoriou, G; Louka, SF; Malatras, A; Flinter, F; Gale, DP; Gear, S; Gross, O; Hoefele, J; Lennon, R; Miner, JH; Renieri, A; Savige, J; Turner, AN; - view fewer (2023) Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice. Genes , 14 (9) , Article 1686. 10.3390/genes14091686.

Doctor, Gabriel T; Gale, Daniel P; Chan, Melanie My; (2023) Genomics in the kidney clinic. Clinical Medicine Journal , 23 (3) pp. 246-249. 10.7861/clinmed.2023-RM2.

Downie, Mallory L; Gupta, Sanjana; Chan, Melanie MY; Sadeghi-Alavijeh, Omid; Cao, Jingjing; Parekh, Rulan S; Diz, Carmen Bugarin; ... Gale, Daniel P; + view all Downie, Mallory L; Gupta, Sanjana; Chan, Melanie MY; Sadeghi-Alavijeh, Omid; Cao, Jingjing; Parekh, Rulan S; Diz, Carmen Bugarin; Bierzynska, Agnieszka; Levine, Adam P; Pepper, Ruth J; Stanescu, Horia; Saleem, Moin A; Kleta, Robert; Bockenhauer, Detlef; Koziell, Ania B; Gale, Daniel P; - view fewer (2023) Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome. Pediatric Nephrology , 38 (6) pp. 1793-1800. 10.1007/s00467-022-05789-7.

Downie, ML; Gupta, S; Voinescu, C; Levine, AP; Sadeghi-Alavijeh, O; Dufek-Kamperis, S; Cao, J; ... Gale, DP; + view all Downie, ML; Gupta, S; Voinescu, C; Levine, AP; Sadeghi-Alavijeh, O; Dufek-Kamperis, S; Cao, J; Christian, M; Kari, JA; Thalgahagoda, S; Ranawaka, R; Abeyagunawardena, A; Gbadegesin, R; Parekh, R; Kleta, R; Bockenhauer, D; Stanescu, HC; Gale, DP; - view fewer (2023) Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome. Kidney International Reports 10.1016/j.ekir.2023.05.018. (In press).

Glover, EK; Smith-Jackson, K; Brocklebank, V; Wilson, V; Walsh, PR; Montgomery, EK; Wong, EKS; ... UK aHUS Transplant Consortium; + view all Glover, EK; Smith-Jackson, K; Brocklebank, V; Wilson, V; Walsh, PR; Montgomery, EK; Wong, EKS; Johnson, S; Malina, M; Kavanagh, D; Sheerin, NS; Ahmed, A; Ashby, D; Awan, A; Baker, R; Bhandari, S; Bingham, C; Bommayya, G; Border, D; Breen, C; Brown, H; Brown, A; Carmichael, P; Chowdhury, P; Curran, S; Donne, R; Dudley, C; Dutt, T; Eardley, K; Eblamo-Abad, E; Gale, D; Griffin, S; Harty, J; Hewins, P; Holt, R; Ingham, V; Kilbride, H; Kingdon, E; Lewis, R; Mansfield, N; Marks, SD; Mason, P; Mead, P; Morton, M; Muniraju, T; Nagaraja, P; Padmanabhan, N; Plant, N; Raftery, T; Rowe, P; Salama, A; Shenbagaraman, P; Taylor, A; Tomlinson, K; Torpey, N; Uniacke, M; Walbaum, D; Webb, M; Williams, M; Woodman, A; Shah, S; Saif, I; UK aHUS Transplant Consortium; - view fewer (2023) Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome. Transplantation , 107 (4) pp. 994-1003. 10.1097/TP.0000000000004355.

Gupta, Sanjana; Downie, Mallory Lorraine; Cheshire, Chris; Dufek-Kamperis, Stephanie; Levine, Adam Paul; Brenchley, Paul; Hoxha, Elion; ... Gale, Daniel Philip; + view all Gupta, Sanjana; Downie, Mallory Lorraine; Cheshire, Chris; Dufek-Kamperis, Stephanie; Levine, Adam Paul; Brenchley, Paul; Hoxha, Elion; Stahl, Rolf; Ashman, Neil; Pepper, Ruth Jennifer; Mason, Sean; Norman, Jill; Bockenhauer, Detlef; Stanescu, Horia Constantin; Kleta, Robert; Gale, Daniel Philip; - view fewer (2023) A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy. Glomerular Diseases , 3 (1) pp. 116-125. 10.1159/000529959.

Kiryluk, Krzysztof; Sanchez-Rodriguez, Elena; Zhou, Xu-Jie; Zanoni, Francesca; Liu, Lili; Mladkova, Nikol; Khan, Atlas; ... Gharavi, Ali G; + view all Kiryluk, Krzysztof; Sanchez-Rodriguez, Elena; Zhou, Xu-Jie; Zanoni, Francesca; Liu, Lili; Mladkova, Nikol; Khan, Atlas; Marasa, Maddalena; Zhang, Jun Y; Balderes, Olivia; Sanna-Cherchi, Simone; Bomback, Andrew S; Canetta, Pietro A; Appel, Gerald B; Radhakrishnan, Jai; Trimarchi, Hernan; Sprangers, Ben; Cattran, Daniel C; Reich, Heather; Pei, York; Ravani, Pietro; Galesic, Kresimir; Maixnerova, Dita; Tesar, Vladimir; Stengel, Benedicte; Metzger, Marie; Canaud, Guillaume; Maillard, Nicolas; Berthoux, Francois; Berthelot, Laureline; Pillebout, Evangeline; Monteiro, Renato; Nelson, Raoul; Wyatt, Robert J; Smoyer, William; Mahan, John; Samhar, Al-Akash; Hidalgo, Guillermo; Quiroga, Alejandro; Weng, Patricia; Sreedharan, Raji; Selewski, David; Davis, Keefe; Kallash, Mahmoud; Vasylyeva, Tetyana L; Rheault, Michelle; Chishti, Aftab; Ranch, Daniel; Wenderfer, Scott E; Samsonov, Dmitry; Claes, Donna J; Akchurin, Oleh; Goumenos, Dimitrios; Stangou, Maria; Nagy, Judit; Kovacs, Tibor; Fiaccadori, Enrico; Amoroso, Antonio; Barlassina, Cristina; Cusi, Daniele; Del Vecchio, Lucia; Battaglia, Giovanni Giorgio; Bodria, Monica; Boer, Emanuela; Bono, Luisa; Boscutti, Giuliano; Caridi, Gianluca; Lugani, Francesca; Ghiggeri, GianMarco; Coppo, Rosanna; Peruzzi, Licia; Esposito, Vittoria; Esposito, Ciro; Feriozzi, Sandro; Polci, Rosaria; Frasca, Giovanni; Galliani, Marco; Garozzo, Maurizio; Mitrotti, Adele; Gesualdo, Loreto; Granata, Simona; Zaza, Gianluigi; Londrino, Francesco; Magistroni, Riccardo; Pisani, Isabella; Magnano, Andrea; Marcantoni, Carmelita; Messa, Piergiorgio; Mignani, Renzo; Pani, Antonello; Ponticelli, Claudio; Roccatello, Dario; Salvadori, Maurizio; Salvi, Erica; Santoro, Domenico; Gembillo, Guido; Savoldi, Silvana; Spotti, Donatella; Zamboli, Pasquale; Izzi, Claudia; Alberici, Federico; Delbarba, Elisa; Florczak, Michał; Krata, Natalia; Mucha, Krzysztof; Pączek, Leszek; Niemczyk, Stanisław; Moszczuk, Barbara; Pańczyk-Tomaszewska, Malgorzata; Mizerska-Wasiak, Malgorzata; Perkowska-Ptasińska, Agnieszka; Bączkowska, Teresa; Durlik, Magdalena; Pawlaczyk, Krzysztof; Sikora, Przemyslaw; Zaniew, Marcin; Kaminska, Dorota; Krajewska, Magdalena; Kuzmiuk-Glembin, Izabella; Heleniak, Zbigniew; Bullo-Piontecka, Barbara; Liberek, Tomasz; Dębska-Slizien, Alicja; Hryszko, Tomasz; Materna-Kiryluk, Anna; Miklaszewska, Monika; Szczepańska, Maria; Dyga, Katarzyna; Machura, Edyta; Siniewicz-Luzeńczyk, Katarzyna; Pawlak-Bratkowska, Monika; Tkaczyk, Marcin; Runowski, Dariusz; Kwella, Norbert; Drożdż, Dorota; Habura, Ireneusz; Kronenberg, Florian; Prikhodina, Larisa; van Heel, David; Fontaine, Bertrand; Cotsapas, Chris; Wijmenga, Cisca; Franke, Andre; Annese, Vito; Gregersen, Peter K; Parameswaran, Sreeja; Weirauch, Matthew; Kottyan, Leah; Harley, John B; Suzuki, Hitoshi; Narita, Ichiei; Goto, Shin; Lee, Hajeong; Kim, Dong Ki; Kim, Yon Su; Park, Jin-Ho; Cho, BeLong; Choi, Murim; Van Wijk, Ans; Huerta, Ana; Ars, Elisabet; Ballarin, Jose; Lundberg, Sigrid; Vogt, Bruno; Mani, Laila-Yasmin; Caliskan, Yasar; Barratt, Jonathan; Abeygunaratne, Thilini; Kalra, Philip A; Gale, Daniel P; Panzer, Ulf; Rauen, Thomas; Floege, Jürgen; Schlosser, Pascal; Ekici, Arif B; Eckardt, Kai-Uwe; Chen, Nan; Xie, Jingyuan; Lifton, Richard P; Loos, Ruth JF; Kenny, Eimear E; Ionita-Laza, Iuliana; Köttgen, Anna; Julian, Bruce A; Novak, Jan; Scolari, Francesco; Zhang, Hong; Gharavi, Ali G; - view fewer (2023) Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nature Genetics , 55 (7) pp. 1091-1105. 10.1038/s41588-023-01422-x.

Pitcher, David; Braddon, Fiona; Hendry, Bruce; Mercer, Alex; Osmaston, Kate; Saleem, Moin A; Steenkamp, Retha; ... Barratt, Jonathan; + view all Pitcher, David; Braddon, Fiona; Hendry, Bruce; Mercer, Alex; Osmaston, Kate; Saleem, Moin A; Steenkamp, Retha; Wong, Katie; Turner, A Neil; Wang, Kaijun; Gale, Daniel P; Barratt, Jonathan; - view fewer (2023) Long-Term Outcomes in IgA Nephropathy. Clinical Journal of the American Society of Nephrology , 18 (6) pp. 727-738. 10.2215/CJN.0000000000000135.

Sadeghi-Alavijeh, Omid; Chan, Melanie My; Moochhala, Shabbir H; Genomics England Research, Consortium; Howles, Sarah; Gale, Daniel P; Böckenhauer, Detlef; (2023) Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease. Kidney International , 104 (5) pp. 975-984. 10.1016/j.kint.2023.06.019.

Scully, M; Rayment, R; Clark, A; Westwood, JP; Cranfield, T; Gooding, R; Bagot, CN; ... BSH Committee; + view all Scully, M; Rayment, R; Clark, A; Westwood, JP; Cranfield, T; Gooding, R; Bagot, CN; Taylor, A; Sankar, V; Gale, D; Dutt, T; McIntyre, J; Lester, W; BSH Committee; - view fewer (2023) A British Society for Haematology Guideline: Diagnosis and management of thrombotic thrombocytopenic purpura and thrombotic microangiopathies. British Journal of Haematology , 203 (4) pp. 546-463. 10.1111/bjh.19026.

Tam, FWK; Tumlin, J; Barratt, J; Rovin, BH; Roberts, ISD; Roufosse, C; Cook, HT; ... Lafayette, R; + view all Tam, FWK; Tumlin, J; Barratt, J; Rovin, BH; Roberts, ISD; Roufosse, C; Cook, HT; Bhangal, G; Brown, AL; Busch, M; Dudhiya, F; Duliege, AM; Fraser, DJ; Gale, DP; Huang, CC; Lai, PC; Lee, M; Masuda, ES; McAdoo, SP; Rosenkranz, AR; Sommerer, C; Sunder-Plassmann, G; Szeto, CC; Tang, SCW; Williamson, DE; Willcocks, L; Vielhauer, V; Kim, MJ; Todd, L; Zayed, H; Tong-Starksen, S; Lafayette, R; - view fewer (2023) Randomized Trial on the Effect of an Oral Spleen Tyrosine Kinase Inhibitor in the Treatment of IgA Nephropathy. Kidney International Reports 10.1016/j.ekir.2023.09.024.

2022

Chan, Melanie Mai Yee; Sadeghi-Alavijeh, Omid; Lopes, Filipa M; Hilger, Alina C; Stanescu, Horia C; Voinescu, Catalin D; Beaman, Glenda M; ... Gale, Daniel P; + view all Chan, Melanie Mai Yee; Sadeghi-Alavijeh, Omid; Lopes, Filipa M; Hilger, Alina C; Stanescu, Horia C; Voinescu, Catalin D; Beaman, Glenda M; Newman, William G; Zaniew, Marcin; Weber, Stefanie; Ho, Yee Mang; Connolly, John O; Wood, Dan; Maj, Carlo; Stuckey, Alexander; Kousathanas, Athanasios; Genomics England Research Consortium; Kleta, Robert; Woolf, Adrian S; Bockenhauer, Detlef; Levine, Adam P; Gale, Daniel P; - view fewer (2022) Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves. eLife , 11 , Article e74777. 10.7554/eLife.74777.

Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Zietkiewicz, Beata S; Hoefele, Julia; Flinter, Frances; ... Renieri, Alessandra; + view all Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Zietkiewicz, Beata S; Hoefele, Julia; Flinter, Frances; Gale, Daniel P; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H; Massella, Laura; Ljubanovic, Danica Galesic; Lennon, Rachel; Weinstock, Andre B; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra; - view fewer (2022) The 2019 and 2021 International Workshops on Alport Syndrome. European Journal of Human Genetics 10.1038/s41431-022-01075-0. (In press).

Dixon, Peter H; Levine, Adam P; Cebola, Inês; Chan, Melanie MY; Amin, Aliya S; Aich, Anshul; Mozere, Monika; ... Williamson, Catherine; + view all Dixon, Peter H; Levine, Adam P; Cebola, Inês; Chan, Melanie MY; Amin, Aliya S; Aich, Anshul; Mozere, Monika; Maude, Hannah; Mitchell, Alice L; Zhang, Jun; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers, Jenny; Syngelaki, Argyro; Donnelly, Jennifer; Cooley, Sharon; Geary, Michael; Nicolaides, Kypros; Thorsell, Malin; Hague, William M; Estiu, Maria Cecilia; Marschall, Hanns-Ulrich; Gale, Daniel P; Williamson, Catherine; - view fewer (2022) GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements. Nature Communications , 13 , Article 4840. 10.1038/s41467-022-29931-z.

Gibson, Joel T; Huang, Mary; Shenelli Croos Dabrera, Marina; Shukla, Krushnam; Rothe, Hansjörg; Hilbert, Pascale; Deltas, Constantinos; ... Savige, Judy; + view all Gibson, Joel T; Huang, Mary; Shenelli Croos Dabrera, Marina; Shukla, Krushnam; Rothe, Hansjörg; Hilbert, Pascale; Deltas, Constantinos; Storey, Helen; Lipska-Ziętkiewicz, Beata S; Chan, Melanie MY; Sadeghi-Alavijeh, Omid; Gale, Daniel P; Genomics England Research Consortium; Cerkauskaite, Agne; Savige, Judy; - view fewer (2022) Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome. Scientific Reports , 12 (1) , Article 2722. 10.1038/s41598-022-06525-9.

Gibson, Joel T; Sadeghi-Alavijeh, Omid; Gale, Daniel P; Rothe, Hansjörg; Genomics England Research Consortium; Savige, Judy; (2022) Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome. Scientific Reports , 12 , Article 11257. 10.1038/s41598-022-14928-x.

KDIGO Conference Participants; (2022) Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International , 101 (6) pp. 1126-1141. 10.1016/j.kint.2022.03.019.

Khalil, Y; Carrino, S; Lin, F; Ferlin, A; Lad, HV; Mazzacuva, F; Falcone, S; ... Clayton, PT; + view all Khalil, Y; Carrino, S; Lin, F; Ferlin, A; Lad, HV; Mazzacuva, F; Falcone, S; Rivers, N; Banks, G; Concas, D; Aguilar, C; Haynes, AR; Blease, A; Nicol, T; Al-Shawi, R; Heywood, W; Potter, P; Mills, K; Gale, DP; Clayton, PT; - view fewer (2022) Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation. International Journal of Molecular Sciences , 23 (2) , Article 987. 10.3390/ijms23020987.

Liang, KV; Ellis, BK; Stokes, MB; Smith, RJ; Gu, X; Gale, DP; (2022) Hematuria and Proteinuria in a Patient With Recurrent Pulmonary Illnesses: A Quiz. American Journal of Kidney Diseases , 79 (6) A13-A15. 10.1053/j.ajkd.2021.10.015.

Mingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjöld, Agneta; Newman, William; Woolf, Adrian S; Eckstein, Markus; ... Reutter, Heiko; + view all Mingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjöld, Agneta; Newman, William; Woolf, Adrian S; Eckstein, Markus; Hilger, Alina C; Dworschak, Gabriel C; Rösch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M; Hernandez, Jose L; Erben, Philipp; Maj, Carlo; Olmos, Jose M; Riancho, Jose A; Valero, Carmen; Hostettler, Isabel C; Houlden, Henry; Werring, David J; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C; Arkani, Samara; Åkesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schäfer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M; van Rooij, Iris ALM; Feitz, Wouter FJ; Marcelis, Carlo LM; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P; Chan, Melanie MY; Ludwig, Kerstin U; Nöthen, Markus M; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, Heiko; - view fewer (2022) A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. Communications Biology , 5 , Article 1203. 10.1038/s42003-022-04092-3.

Mohamed, M; Tellez, J; Bergmann, C; Gale, DP; Sayer, JA; Olinger, E; (2022) Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. Annals of Human Genetics , 86 (3) pp. 145-152. 10.1111/ahg.12454.

Morais, Mychel Rpt; Tian, Pinyuan; Lawless, Craig; Murtuza-Baker, Syed; Hopkinson, Louise; Woods, Steven; Mironov, Aleksandr; ... Lennon, Rachel; + view all Morais, Mychel Rpt; Tian, Pinyuan; Lawless, Craig; Murtuza-Baker, Syed; Hopkinson, Louise; Woods, Steven; Mironov, Aleksandr; Long, David A; Gale, Daniel P; Zorn, Telma Mt; Kimber, Susan J; Zent, Roy; Lennon, Rachel; - view fewer (2022) ­­­Kidney organoids recapitulate human basement membrane assembly in health and disease. eLife , 11 , Article e73486. 10.7554/eLife.73486.

Savige, Judy; Renieri, Alessandra; Ars, Elisabet; Daga, Sergio; Pinto, Anna Maria; Rothe, Hansjorg; Gale, Daniel P; ... Gibson, Joel T; + view all Savige, Judy; Renieri, Alessandra; Ars, Elisabet; Daga, Sergio; Pinto, Anna Maria; Rothe, Hansjorg; Gale, Daniel P; Aksenova, Marina; Cerkauskaite, Agne; Bielska, Olga; Lipska-Zietkiewicz, Beata; Gibson, Joel T; - view fewer (2022) Digenic Alport Syndrome. Clinical Journal of the American Society of Nephrology , 17 (6) , Article CJN.03120322. 10.2215/CJN.03120322.

Shwan, Nzar AA; Moise, Eric C; Necsoiu, Paula E; Farr, Amy J; Gale, Daniel P; Barratt, Jonathan; Armour, John AL; (2022) Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP–CNV haplotypes in predisposition to IgA nephropathy. Annals of Human Genetics 10.1111/ahg.12481. (In press).

2021

Downie, ML; Gupta, S; Tekman, MC; Cheshire, C; Arora, S; Licht, C; Robinson, LA; ... Kleta, R; + view all Downie, ML; Gupta, S; Tekman, MC; Cheshire, C; Arora, S; Licht, C; Robinson, LA; Munoz, M; Aris, AM; Al Attrach, I; Brenchley, PE; Gale, DP; Stanescu, H; Bockenhauer, D; Kleta, R; - view fewer (2021) Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy. Kidney International Reports 10.1016/j.ekir.2021.02.025. (In press).

Dufek-Kamperis, S; Kleta, R; Bockenhauer, D; Gale, D; Downie, ML; (2021) Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood. Pediatric Nephrology , 36 pp. 2165-2175. 10.1007/s00467-020-04780-4.

Gibson, J; Fieldhouse, R; Chan, MMY; Sadeghi-Alavijeh, O; Burnett, L; Izzi, V; Persikov, AV; ... Savige, J; + view all Gibson, J; Fieldhouse, R; Chan, MMY; Sadeghi-Alavijeh, O; Burnett, L; Izzi, V; Persikov, AV; Gale, DP; Storey, H; Savige, J; - view fewer (2021) Prevalence estimates of predicted pathogenic col4a3-col4a5 variants in a population sequencing database and their implications for alport syndrome. Journal of the American Society of Nephrology , 32 (9) pp. 2273-2290. 10.1681/ASN.2020071065.

Stubbs, MJ; Coppo, P; Cheshire, C; Veyradier, A; Dufek, S; Levine, AP; Thomas, M; ... Scully, MA; + view all Stubbs, MJ; Coppo, P; Cheshire, C; Veyradier, A; Dufek, S; Levine, AP; Thomas, M; Patel, V; Connolly, JO; Hubank, M; Benhamou, Y; Galicier, L; Poullin, P; Kleta, R; Gale, DP; Stanescu, H; Scully, MA; - view fewer (2021) Identification of a novel genetic locus associated with immune mediated thrombotic thrombocytopenic purpura. Haematologica 10.3324/haematol.2020.274639. (In press).

Wong, EKS; Marchbank, KJ; Lomax-Browne, H; Pappworth, IY; Denton, H; Cooke, K; Ward, S; ... MPGN/DDD/C3 Glomerulopathy Rare Disease Group and National Study; + view all Wong, EKS; Marchbank, KJ; Lomax-Browne, H; Pappworth, IY; Denton, H; Cooke, K; Ward, S; McLoughlin, A-C; Richardson, G; Wilson, V; Harris, CL; Morgan, BP; Hakobyan, S; McAlinden, P; Gale, DP; Maxwell, H; Christian, M; Malcomson, R; Goodship, THJ; Marks, SD; Pickering, MC; Kavanagh, D; Cook, HT; Johnson, SA; MPGN/DDD/C3 Glomerulopathy Rare Disease Group and National Study; - view fewer (2021) C3 Glomerulopathy and Related Disorders in Children: Etiology-Phenotype Correlation and Outcomes. Clinical Journal of the American Society of Nephrology (CJASN) , 16 (11) pp. 1639-1651. 10.2215/CJN.00320121.

2020

Brocklebank, V; Kumar, G; Howie, AJ; Chandar, J; Milford, DV; Craze, J; Evans, J; ... Kavanagh, D; + view all Brocklebank, V; Kumar, G; Howie, AJ; Chandar, J; Milford, DV; Craze, J; Evans, J; Finlay, E; Freundlich, M; Gale, DP; Inward, C; Mraz, M; Jones, C; Wong, W; Marks, SD; Connolly, J; Corner, BM; Smith-Jackson, K; Walsh, PR; Marchbank, KJ; Harris, CL; Wilson, V; Wong, EKS; Malina, M; Johnson, S; Sheerin, NS; Kavanagh, D; - view fewer (2020) Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy. Kidney International , 97 (6) pp. 1260-1274. 10.1016/j.kint.2020.01.045.

Gale, D; Mallett, A; Patel, C; Sneddon, TP; Rehm, HL; Sampson, MG; Bockenhauer, D; (2020) Diagnoses of uncertain significance: kidney genetics in the 21st century. Nature Reviews Nephrology , 16 pp. 616-618. 10.1038/s41581-020-0277-6.

Kadkhodayi-Kholghi, N; Bhatt, JS; Gor, J; McDermott, LC; Gale, DP; Perkins, SJ; (2020) The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy. Journal of Biological Chemistry , 295 (48) pp. 16342-16358. 10.1074/jbc.ra120.015132.

Kidd, K; Vylet'al, P; Schaeffer, C; Olinger, E; Živná, M; Hodaňová, K; Robins, V; ... Bleyer, AJ; + view all Kidd, K; Vylet'al, P; Schaeffer, C; Olinger, E; Živná, M; Hodaňová, K; Robins, V; Johnson, E; Taylor, A; Martin, L; Izzi, C; Jorge, SC; Calado, J; Torres, RJ; Lhotta, K; Steubl, D; Gale, DP; Gast, C; Gombos, E; Ainsworth, HC; Chen, YM; Almeida, JR; de Souza, CF; Silveira, C; Raposeiro, R; Weller, N; Conlon, PJ; Murray, SL; Benson, KA; Cavalleri, GL; Votruba, M; Vrbacká, A; Amoroso, A; Gianchino, D; Caridi, G; Ghiggeri, GM; Divers, J; Scolari, F; Devuyst, O; Rampoldi, L; Kmoch, S; Bleyer, AJ; - view fewer (2020) Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations. Kidney International Reports , 5 (9) pp. 1472-1485. 10.1016/j.ekir.2020.06.029.

Levine, AP; Chan, MMY; Sadeghi-Alavijeh, O; Wong, EKS; Cook, HT; Ashford, S; Carss, K; ... Gale, DP; + view all Levine, AP; Chan, MMY; Sadeghi-Alavijeh, O; Wong, EKS; Cook, HT; Ashford, S; Carss, K; Christian, MT; Hall, M; Harris, CL; McAlinden, P; Marchbank, KJ; Marks, SD; Maxwell, H; Megy, K; Penkett, CJ; Mozere, M; Stirrups, KE; Tuna, S; Wessels, J; Whitehorn, D; MPGN/DDD/C3 Glomerulopathy Rare Disease Group; NIHR BioResource; Johnson, SA; Gale, DP; - view fewer (2020) Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy. Journal of the American Society of Nephrology , 31 (1) 10.1681/ASN.2019040433.

Olinger, E; Hofmann, P; Kidd, K; Dufour, I; Belge, H; Schaeffer, C; Kipp, A; ... Devuyst, O; + view all Olinger, E; Hofmann, P; Kidd, K; Dufour, I; Belge, H; Schaeffer, C; Kipp, A; Bonny, O; Deltas, C; Demoulin, N; Fehr, T; Fuster, DG; Gale, DP; Goffin, E; Hodanova, K; Hyunh-Do, U; Kistler, AD; Morelle, J; Papagregoriou, G; Pirson, Y; Sandford, R; Sayer, JA; Torra, R; Venzin, C; Venzin, R; Vogt, B; Živná, M; Greka, A; Dahan, K; Rampoldi, L; Kmoch, S; Bleyer, AJ; Devuyst, O; - view fewer (2020) Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1. Kidney International 10.1016/j.kint.2020.04.038. (In press).

Sukcharoen, K; Sharp, SA; Thomas, NJ; Kimmitt, RA; Harrison, J; Bingham, C; Mozere, M; ... Oram, RA; + view all Sukcharoen, K; Sharp, SA; Thomas, NJ; Kimmitt, RA; Harrison, J; Bingham, C; Mozere, M; Weedon, MN; Tyrrell, J; Barratt, J; Gale, DP; Oram, RA; - view fewer (2020) IgA Nephropathy Genetic Risk Score to Estimate the Prevalence of IgA Nephropathy in UK Biobank. Kidney International Reports , 5 (10) pp. 1643-1650. 10.1016/j.ekir.2020.07.012.

Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; ... Smith, KGC; + view all Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; Farmery, JHR; Simeoni, I; Rivers, E; Maimaris, J; Penkett, CJ; Stephens, J; Deevi, SVV; Sanchis-Juan, A; Gleadall, NS; Thomas, MJ; Sargur, RB; Gordins, P; Baxendale, HE; Brown, M; Tuijnenburg, P; Worth, A; Hanson, S; Linger, RJ; Buckland, MS; Rayner-Matthews, PJ; Gilmour, KC; Samarghitean, C; Seneviratne, SL; Sansom, DM; Lynch, AG; Megy, K; Ellinghaus, E; Ellinghaus, D; Jorgensen, SF; Karlsen, TH; Stirrups, KE; Cutler, AJ; Kumararatne, DS; Chandra, A; Edgar, JDM; Herwadkar, A; Cooper, N; Grigoriadou, S; Huissoon, AP; Goddard, S; Jolles, S; Schuetz, C; Boschann, F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons, PA; Hurles, ME; Savic, S; Burns, SO; Kuijpers, TW; Turro, E; Ouwehand, WH; Thrasher, AJ; Smith, KGC; - view fewer (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature , 583 pp. 90-95. 10.1038/s41586-020-2265-1.

Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; ... Ouwehand, WH; + view all Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; Sanchis-Juan, A; Frontini, M; Thys, C; Stephens, J; Mapeta, R; Burren, OS; Downes, K; Haimel, M; Tuna, S; Deevi, SVV; Aitman, TJ; Bennett, DL; Calleja, P; Carss, K; Caulfield, MJ; Chinnery, PF; Dixon, PH; Gale, DP; James, R; Koziell, A; Laffan, MA; Levine, AP; Maher, ER; Markus, HS; Morales, J; Morrell, NW; Mumford, AD; Ormondroyd, E; Rankin, S; Rendon, A; Richardson, S; Roberts, I; Roy, NBA; Saleem, MA; Smith, KGC; Stark, H; Tan, RYY; Themistocleous, AC; Thrasher, AJ; Watkins, H; Webster, AR; Wilkins, MR; Williamson, C; Whitworth, J; Humphray, S; Bentley, DR; NIHR BioResource for the 100,000 Genomes Project, .; Kingston, N; Walker, N; Bradley, JR; Ashford, S; Penkett, CJ; Freson, K; Stirrups, KE; Raymond, FL; Ouwehand, WH; - view fewer (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature , 583 pp. 96-102. 10.1038/s41586-020-2434-2.

Wei, Wei; Pagnamenta, Alistair T; Gleadall, Nicholas; Sanchis-Juan, Alba; Stephens, Jonathan; Broxholme, John; Tuna, Salih; ... Chinnery, Patrick F; + view all Wei, Wei; Pagnamenta, Alistair T; Gleadall, Nicholas; Sanchis-Juan, Alba; Stephens, Jonathan; Broxholme, John; Tuna, Salih; Odhams, Christopher A; Fratter, Carl; Turro, Ernest; Caulfield, Mark J; Taylor, Jenny C; Rahman, Shamima; Chinnery, Patrick F; - view fewer (2020) Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. Nature Communications , 11 , Article 3741. 10.1038/s41467-020-17572-z.

2019

Annear, NMP; Appleton, RE; Bassi, Z; Bhatt, R; Bolton, PF; Crawford, P; Crowe, A; ... Kingswood, JC; + view all Annear, NMP; Appleton, RE; Bassi, Z; Bhatt, R; Bolton, PF; Crawford, P; Crowe, A; Tossi, M; Elmslie, F; Finlay, E; Gale, DP; Henderson, A; Jones, EA; Johnson, SR; Joss, S; Kerecuk, L; Lipkin, G; Morrison, PJ; O'Callaghan, FJ; Cadwgan, J; Ong, ACM; Sampson, JR; Shepherd, C; Kingswood, JC; - view fewer (2019) Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. Frontiers in Neurology , 10 , Article 1116. 10.3389/fneur.2019.01116.

Dudley, J; Winyard, P; Marlais, M; Cuthell, O; Harris, T; Chong, J; Sayer, J; ... Sandford, R; + view all Dudley, J; Winyard, P; Marlais, M; Cuthell, O; Harris, T; Chong, J; Sayer, J; Gale, DP; Moore, L; Turner, K; Burrows, S; Sandford, R; - view fewer (2019) Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD). [Rapid communication]. BMC Nephrology , 20 (148) 10.1186/s12882-019-1285-2.

Dufek, S; Cheshire, C; Levine, AP; Trompeter, RS; Issler, N; Stubbs, M; Mozere, M; ... Bockenhauer, D; + view all Dufek, S; Cheshire, C; Levine, AP; Trompeter, RS; Issler, N; Stubbs, M; Mozere, M; Gupta, S; Klootwijk, E; Patel, V; Hothi, D; Waters, A; Webb, H; Tullus, K; Jenkins, L; Godinho, L; Levtchenko, E; Wetzels, J; Knoers, N; Teeninga, N; Nauta, J; Shalaby, M; Edlesoky, S; Kari, JA; Thalgahagoda, S; Ranawaka, R; Abeyagunawardena, A; Adeyemo, A; Kristiansen, M; Gbadegesin, R; Webb, NJW; Gale, DP; Stanescu, HC; Kleta, R; Bockenhauer, D; - view fewer (2019) Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome. Journal of the American Society of Nephrology , 30 (8) pp. 1375-1384. 10.1681/ASN.2018101054.

French, CE; Delon, I; Dolling, H; Sanchis-Juan, A; Shamardina, O; Mégy, K; Abbs, S; ... Raymond, FL; + view all French, CE; Delon, I; Dolling, H; Sanchis-Juan, A; Shamardina, O; Mégy, K; Abbs, S; Austin, T; Bowdin, S; Branco, RG; Firth, H; NIHR BioResource—Rare Disease; Next Generation Children Project; Rowitch, DH; Raymond, FL; - view fewer (2019) Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Medicine 10.1007/s00134-019-05552-x. (In press).

Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; ... Kurian, MA; + view all Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; Bryant, E; Reich, A; Schneider, AL; Pressler, RM; Simpson, MA; Debelle, GD; Wassmer, E; Morton, J; Sieciechowicz, D; Jan-Kamsteeg, E; Paciorkowski, AR; King, MD; Cross, JH; Poduri, A; Mefford, HC; Scheffer, IE; Haack, TB; McCullagh, G; Millichap, JJ; Carvill, GL; Clayton-Smith, J; Maher, ER; Raymond, FL; Kurian, MA; - view fewer (2019) Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. American Journal of Human Genetics , 104 (5) pp. 948-956. 10.1016/j.ajhg.2019.03.005.

Lin, F-J; Yao, L; Hu, X-Q; Bian, F; Ji, G; Jiang, G-R; Gale, DP; Lin, F-J; Yao, L; Hu, X-Q; Bian, F; Ji, G; Jiang, G-R; Gale, DP; Ren, H-Q; - view fewer (2019) First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis. Clinical Science , 133 (1) pp. 9-21. 10.1042/CS20180676.

Neave, L; Gale, DP; Cheesman, S; Shah, R; Scully, M; (2019) Atypical haemolytic uraemic syndrome in the eculizumab era: presentation, response to treatment and evaluation of an eculizumab withdrawal strategy. British Journal of Haematology , 186 (1) pp. 113-124. 10.1111/bjh.15899.

Rhodes, CJ; Batai, K; Bleda, M; Haimel, M; Southgate, L; Germain, M; Pauciulo, MW; ... Winslow, C; + view all Rhodes, CJ; Batai, K; Bleda, M; Haimel, M; Southgate, L; Germain, M; Pauciulo, MW; Hadinnapola, C; Aman, J; Girerd, B; Arora, A; Knight, J; Hanscombe, KB; Karnes, JH; Kaakinen, M; Gall, H; Ulrich, A; Harbaum, L; Cebola, I; Ferrer, J; Lutz, K; Swietlik, EM; Ahmad, F; Amouyel, P; Archer, SL; Argula, R; Austin, ED; Badesch, D; Bakshi, S; Barnett, C; Benza, R; Bhatt, N; Bogaard, HJ; Burger, CD; Chakinala, M; Church, C; Coghlan, JG; Condliffe, R; Corris, PA; Danesino, C; Debette, S; Elliott, CG; Elwing, J; Eyries, M; Fortin, T; Franke, A; Frantz, RP; Frost, A; Garcia, JGN; Ghio, S; Ghofrani, H-A; Gibbs, JSR; Harley, J; He, H; Hill, NS; Hirsch, R; Houweling, AC; Howard, LS; Ivy, D; Kiely, DG; Klinger, J; Kovacs, G; Lahm, T; Laudes, M; Machado, RD; Ross, RVM; Marsolo, K; Martin, LJ; Moledina, S; Montani, D; Nathan, SD; Newnham, M; Olschewski, A; Olschewski, H; Oudiz, RJ; Ouwehand, WH; Peacock, AJ; Pepke-Zaba, J; Rehman, Z; Robbins, I; Roden, DM; Rosenzweig, EB; Saydain, G; Scelsi, L; Schilz, R; Seeger, W; Shaffer, CM; Simms, RW; Simon, M; Sitbon, O; Suntharalingam, J; Tang, H; Tchourbanov, AY; Thenappan, T; Torres, F; Toshner, MR; Treacy, CM; Noordegraaf, AV; Waisfisz, Q; Walsworth, AK; Walter, RE; Wharton, J; White, RJ; Wilt, J; Wort, SJ; Yung, D; Lawrie, A; Humbert, M; Soubrier, F; Tregouet, D-A; Prokopenko, I; Kittles, R; Graf, S; Nichols, WC; Trembath, RC; Desai, AA; Morrell, NW; Wilkins, MR; Adlard, J; Ahmed, M; Aitman, T; Alachkar, H; Allsup, D; Almeida-King, J; Ancliff, P; Antrobus, R; Armstrong, R; Arno, G; Ashford, S; Astle, W; Attwood, A; Babbs, C; Bakchoul, T; Bariana, T; Barwell, J; Bennett, D; Bentley, D; Bierzynska, A; Biss, T; Bogaard, H; Bourne, C; Boyce, S; Bradley, J; Breen, G; Brennan, P; Brewer, C; Brown, M; Browning, M; Buchan, R; Buckland, M; Bueser, T; Burns, S; Burren, O; Calleja, P; Carr-White, G; Carss, K; Casey, R; Caulfield, M; Chambers, J; Chambers, J; Cheng, F; Chinnery, PF; Christian, M; Brod, NC; Coghlan, G; Colby, E; Cole, T; Collins, J; Collins, P; Colombo, C; Cook, S; Cook, T; Cooper, N; Corris, P; Crisp-Hihn, A; Curry, N; Daniels, M; Daugherty, L; Davis, J; Deevi, SVV; Dent, T; Dewhurst, E; Dixon, P; Downes, K; Drazyk, A; Drewe, E; Dutt, T; Edgar, D; Edwards, K; Egner, W; Erber, W; Erwood, M; Estiu, MC; Evans, G; Evans, DG; Everington, T; Eyries, M; Favier, R; Fletcher, D; Fox, J; Frary, A; French, C; Freson, K; Frontini, M; Gale, D; Geoghegan, C; Gerighty, T; Gibbs, S; Gilmour, K; Goddard, S; Gomez, K; Gordins, P; Gosal, D; Grassi, L; Greene, D; Greenhalgh, L; Greinacher, A; Gresele, P; Griffiths, P; Grigoriadou, S; Grocock, R; Grozeva, D; Hackett, S; Hague, W; Hall, M; Hanson, H; Harkness, K; Harper, A; Harris, C; Hart, D; Hassan, A; Hayman, G; Henderson, A; Hoffmann, J; Horvath, R; Houweling, A; Howard, L; Hu, F; Hudson, G; Hughes, J; Huissoon, A; Humphray, S; Hunter, S; Hurles, M; Izatt, L; James, R; Johnson, S; Jolles, S; Jolley, J; Jurkute, N; Kasanicki, M; Kazkaz, H; Kazmi, R; Kelleher, P; Kiely, D; Kingston, N; Klima, R; Kostadima, M; Koziell, A; Kreuzhuber, R; Kuijpers, T; Kumar, A; Kumararatne, D; Kurian, M; Laffan, M; Lalloo, F; Lambert, M; Allen, HL; Layton, M; Lentaigne, C; Levine, A; Linger, R; Longhurst, H; Louka, E; Ross, RM; Madan, B; Maher, E; Maimaris, J; Mangles, S; Mapeta, R; Marchbank, K; Marks, S; Markus, HS; Marschall, H-U; Marshall, A; Martin, J; Mathias, M; Matthews, E; Maxwell, H; McAlinden, P; McCarthy, M; Meacham, S; Mead, A; Megy, K; Mehta, S; Michaelides, M; Millar, C; Moore, T; Morrell, N; Mozere, M; Muir, K; Mumford, A; O'Sullivan, J; Obaji, S; Okoli, S; Ong, KR; Ormondroyd, E; Ouwehand, W; Papadia, S; Park, S-M; Parry, D; Paterson, J; Peacock, A; Peden, J; Peerlinck, K; Penkett, C; Petersen, R; Pyle, A; Rankin, S; Rao, A; Raymond, FL; Rayner-Matthews, P; Rees, C; Rendon, A; Renton, T; Rice, A; Richardson, S; Richter, A; Roberts, I; Roughley, C; Roy, N; Sadeghi-Alavijeh, O; Saleem, M; Samani, N; Sanchis-Juan, A; Sargur, R; Satchell, S; Savic, S; Schulman, S; Scully, M; Searle, C; Sewell, C; Seyres, D; Shapiro, S; Sharmardina, O; Shtoyerman, R; Sibson, K; Side, L; Simeoni, I; Simpson, M; Sivapalaratnam, S; Skytte, A-B; Smith, K; Smith, KGC; Snape, K; Staines, S; Staples, E; Stark, H; Stephens, J; Stirrups, K; Stock, S; Swietlik, E; Tait, RC; Talks, K; Tan, R; Thaventhiran, J; Themistocleous, A; Thomas, M; Thomson, K; Thrasher, A; Thys, C; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Traylor, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Vale, T; Van Geet, C; Van Zuydam, N; Vazquez-Lopez, M; Von Ziegenweidt, J; Waisfisz, Q; Walker, S; Ware, J; Watkins, H; Watt, C; Webster, A; Wei, W; Welch, S; Wessels, J; Westbury, S; Westwood, J-P; Whitehorn, D; Whitworth, J; Williamson, C; Wong, E; Wood, N; Wood, Y; Woods, G; Woodward, E; Wort, S; Worth, A; Yates, K; Yong, P; Young, T; Yu, P; Yu-Wai-Man, P; Theuer, A; Malur, A; Williams, A; Dotson, A; Warden, A; Harrington, B; Vang, B; Ziemak, C; Casanova, N; Caskey, E; MacDonald, C; Rowley, C; Larimore, D; Brady, D; Tomer, D; Davis, A; Broach, D; Devereux, J; Lovato, E; Stratton, E; Turk, E; Jackson, E; Paciotti, G; Peichel, G; Birru, H; del Junco, H; Ingledue, R; Bruno, J; Drake, J; Marks, J; Pisarcik, J; Spears, J; Santiago, J; DeMartino, J; Beckmann, J; Palmer, J; Visnaw, K; Kennedy, K; Lewis, K; Miller-Reed, K; Hannon, K; McClain, K; Dillon, L; Olanipekun, L; Mendibles, L; Hawke, L; Brody, L; Durst, L; Andrews, M; Allahua, M; Stratoberdha, M; Lemma, M; Cope, M; Franzo, M; Feliz, N; Hawkes, N; Norwood, T; Wilson, O; Palmisciano, A; Gruhlke, P; Correa, P; Blake, R; Karnekar, R; Do, R; Rohwer, K; Ahmed, S; Schiltz, K; Scovel, P; Cordell, S; Heuerman, S; Ahmad, S; Szuberla, S; Roads, T; Iem, T; Mcgaha, T; Urban, T; Aston, V; Ayesh, W; Light, A; Arkon, A; Tavlarides, A; Anderson, A; Bindu, J; Boekwig, D; Singleton, D; Abrea, I; Lee, J; Ormiston, M; Whitman, R; Holy, R; Almeida-Peters, S; Igenoza, T; Farber, H; Reponen, A; Barve, M; Gygi, A; Winslow, C; - view fewer (2019) Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. The Lancet Respiratory Medicine , 7 (3) pp. 227-238. 10.1016/S2213-2600(18)30409-0.

Savige, J; Ariani, F; Mari, F; Bruttini, M; Renieri, A; Gross, O; Deltas, C; ... Storey, H; + view all Savige, J; Ariani, F; Mari, F; Bruttini, M; Renieri, A; Gross, O; Deltas, C; Flinter, F; Ding, J; Gale, DP; Nagel, M; Yau, M; Shagam, L; Torra, R; Ars, E; Hoefele, J; Garosi, G; Storey, H; - view fewer (2019) Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatric Nephrology , 34 (7) pp. 1175-1189. 10.1007/s00467-018-3985-4.

Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; ... Chinnery, PF; + view all Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; Gale, DP; Bitner-Glindzicz, MAK; Black, GC; Brennan, P; Elliott, P; Flinter, FA; Floto, RA; Houlden, H; Irving, M; Koziell, A; Maher, ER; Markus, HS; Morrell, NW; Newman, WG; Roberts, I; Sayer, JA; Smith, KGC; Taylor, JC; Watkins, H; Webster, AR; Wilkie, AOM; Williamson, C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford, S; Penkett, CJ; Stirrups, KE; Rendon, A; Ouwehand, WH; Bradley, JR; Raymond, FL; Caulfield, M; Turro, E; Chinnery, PF; - view fewer (2019) Germline selection shapes human mitochondrial DNA diversity. Science , 364 (6442) , Article eaau6520. 10.1126/science.aau6520.

2018

Amin, S; Kingswood, JC; Bolton, PF; Elmslie, F; Gale, DP; Harland, C; Johnson, SR; ... O'Callaghan, FJ; + view all Amin, S; Kingswood, JC; Bolton, PF; Elmslie, F; Gale, DP; Harland, C; Johnson, SR; Parker, A; Sampson, JR; Smeaton, M; Wright, I; O'Callaghan, FJ; - view fewer (2018) The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. QJM: An International Journal of Medicine , Article hcy215. 10.1093/qjmed/hcy215.

Braun, DA; Lovric, S; Schapiro, D; Schneider, R; Marquez, J; Asif, M; Hussain, MS; ... Hildebrandt, F; + view all Braun, DA; Lovric, S; Schapiro, D; Schneider, R; Marquez, J; Asif, M; Hussain, MS; Daga, A; Widmeier, E; Rao, J; Ashraf, S; Tan, W; Lusk, CP; Kolb, A; Jobst-Schwan, T; Schmidt, JM; Hoogstraten, CA; Eddy, K; Kitzler, TM; Shril, S; Moawia, A; Schrage, K; Khayyat, AIA; Lawson, JA; Gee, HY; Warejko, JK; Hermle, T; Majmundar, AJ; Hugo, H; Budde, B; Motameny, S; Altmüller, J; Noegel, AA; Fathy, HM; Gale, DP; Waseem, SS; Khan, A; Kerecuk, L; Hashmi, S; Mohebbi, N; Ettenger, R; Serdaroğlu, E; Alhasan, KA; Hashem, M; Goncalves, S; Ariceta, G; Ubetagoyena, M; Antonin, W; Baig, SM; Alkuraya, FS; Shen, Q; Xu, H; Antignac, C; Lifton, RP; Mane, S; Nürnberg, P; Khokha, MK; Hildebrandt, F; - view fewer (2018) Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. Journal of Clinical Investigation 10.1172/JCI98688.

Farmery, JHR; Smith, ML; Lynch, AG; Huissoon, A; Furnell, A; Mead, A; Levine, AP; ... Tan, Y; + view all Farmery, JHR; Smith, ML; Lynch, AG; Huissoon, A; Furnell, A; Mead, A; Levine, AP; Manzur, A; Thrasher, A; Greenhalgh, A; Parker, A; Sanchis-Juan, A; Richter, A; Gardham, A; Lawrie, A; Sohal, A; Creaser-Myers, A; Frary, A; Greinacher, A; Themistocleous, A; Peacock, AJ; Marshall, A; Mumford, A; Rice, A; Webster, A; Brady, A; Koziell, A; Manson, A; Chandra, A; Hensiek, A; in't Veld, AH; Maw, A; Kelly, AM; Moore, A; Noordegraaf, AV; Attwood, A; Herwadkar, A; Ghofrani, A; Houweling, AC; Girerd, B; Furie, B; Treacy, CM; Millar, CM; Sewell, C; Roughley, C; Titterton, C; Williamson, C; Hadinnapola, C; Deshpande, C; Toh, C-H; Bacchelli, C; Patch, C; Van Geet, C; Babbs, C; Bryson, C; Penkett, CJ; Rhodes, CJ; Watt, C; Bethune, C; Booth, C; Lentaigne, C; McJannet, C; Church, C; French, C; Samarghitean, C; Halmagyi, C; Gale, D; Greene, D; Hart, D; Allsup, D; Bennett, D; Edgar, D; Kiely, DG; Gosal, D; Perry, DJ; Keeling, D; Montani, D; Shipley, D; Whitehorn, D; Fletcher, D; Krishnakumar, D; Grozeva, D; Kumararatne, D; Thompson, D; Josifova, D; Maher, E; Wong, EKS; Murphy, E; Dewhurst, E; Louka, E; Rosser, E; Chalmers, E; Colby, E; Drewe, E; McDermott, E; Thomas, E; Staples, E; Clement, E; Matthews, E; Wakeling, E; Oksenhendler, E; Turro, E; Reid, E; Wassmer, E; Raymond, FL; Hu, F; Kennedy, F; Soubrier, F; Flinter, F; Kovacs, G; Polwarth, G; Ambegaonkar, G; Arno, G; Hudson, G; Woods, G; Coghlan, G; Hayman, G; Arumugakani, G; Schotte, G; Cook, HT; Alachkar, H; Allen, HL; Lango-Allen, H; Stark, H; Stauss, H; Schulze, H; Boggard, HJ; Baxendale, H; Dolling, H; Firth, H; Gall, H; Watson, H; Longhurst, H; Markus, HS; Watkins, H; Simeoni, I; Emmerson, I; Roberts, I; Quinti, I; Wanjiku, I; Gibbs, JSR; Thaventhiran, J; Whitworth, J; Hurst, J; Collins, J; Suntharalingam, J; Payne, J; Thachil, J; Martin, JM; Martin, J; Carmichael, J; Maimaris, J; Paterson, J; Pepke-Zaba, J; Heemskerk, JWM; Gebhart, J; Davis, J; Pasi, J; Bradley, JR; Wharton, J; Stephens, J; Rankin, J; Anderson, J; Vogt, J; von Ziegenweldt, J; Rehnstrom, K; Megy, K; Talks, K; Peerlinck, K; Yates, K; Freson, K; Stirrups, K; Gomez, K; Smith, KGC; Carss, K; Rue-Albrecht, K; Gilmour, K; Masati, L; Scelsi, L; Southgate, L; Ranganathan, L; Ginsberg, L; Devlin, L; Willcocks, L; Ormondroyd, L; Lorenzo, L; Harper, L; Allen, L; Daugherty, L; Chitre, M; Kurian, M; Humbert, M; Tischkowitz, M; Bitner-Glindzicz, M; Erwood, M; Scully, M; Veltman, M; Caulfield, M; Layton, M; McCarthy, M; Ponsford, M; Toshner, M; Bleda, M; Wilkins, M; Mathias, M; Reilly, M; Afzal, M; Brown, M; Rondina, M; Stubbs, M; Haimel, M; Lees, M; Laffan, MA; Browning, M; Gattens, M; Richards, M; Michaelides, M; Lambert, MP; Makris, M; De Vries, M; Mahdi-Rogers, M; Saleem, M; Thomas, M; Holder, M; Eyries, M; Clements-Brod, N; Canham, N; Dormand, N; Van Zuydam, N; Kingston, N; Ghali, N; Cooper, N; Morrell, NW; Yeatman, N; Roy, N; Shamardina, O; Alavijeh, OS; Gresele, P; Nurden, P; Chinnery, P; Deegan, P; Yong, P; Yu-Wai-Man, P; Corris, PA; Calleja, P; Gissen, P; Bolton-Maggs, P; Rayner-Matthews, P; Ghataorhe, PK; Gordins, P; Stein, P; Collins, P; Dixon, P; Kelleher, P; Ancliff, P; Yu, P; Tait, RC; Linger, R; Doffinger, R; Machado, R; Kazmi, R; Sargur, R; Favier, R; Tan, R; Liesner, R; Antrobus, R; Sandford, R; Scott, R; Trembath, R; Horvath, R; Hadden, R; MackenzieRoss, RV; Henderson, R; MacLaren, R; James, R; Ghurye, R; DaCosta, R; Hague, R; Mapeta, R; Armstrong, R; Noorani, S; Murng, S; Santra, S; Tuna, S; Johnson, S; Chong, S; Lear, S; Walker, S; Goddard, S; Mangles, S; Westbury, S; Mehta, S; Hackett, S; Nejentsev, S; Moledina, S; Bibi, S; Meehan, S; Othman, S; Revel-Vilk, S; Holden, S; McGowan, S; Staines, S; Savic, S; Burns, S; Grigoriadou, S; Papadia, S; Ashford, S; Schulman, S; Ali, S; Park, S-M; Davies, S; Stock, S; Ali, S; Deevi, SVV; Graf, S; Ghio, S; Wort, SJ; Jolles, S; Austin, S; Welch, S; Meacham, S; Rankin, S; Walker, S; Seneviratne, S; Holder, S; Sivapalaratnam, S; Richardson, S; Kuijpers, T; Kuijpers, TW; Bariana, TK; Bakchoul, T; Everington, T; Renton, T; Young, T; Aitman, T; Warner, TQ; Vale, T; Hammerton, T; Pollock, V; Matser, V; Cookson, V; Clowes, V; Qasim, W; Wei, W; Erber, WN; Ouwehand, WH; Astle, W; Egner, W; Turek, W; Henskens, Y; Tan, Y; - view fewer (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018). Scientific Reports , 8 , Article 13376. 10.1038/s41598-018-31524-0.

Farmery, JHR; Smith, ML; NIHR BioResource - Rare Diseases, .; Lynch, AG; Mead, A; Levine, AP; Manzur, A; ... Huissoon, A; + view all Farmery, JHR; Smith, ML; NIHR BioResource - Rare Diseases, .; Lynch, AG; Mead, A; Levine, AP; Manzur, A; Thrasher, A; Greenhalgh, A; Parker, A; Sanchis-Juan, A; Richter, A; Gardham, A; Lawrie, A; Sohal, A; Creaser-Myers, A; Frary, A; Greinacher, A; Themistocleous, A; Peacock, AJ; Marshall, A; Mumford, A; Rice, A; Webster, A; Brady, A; Koziell, A; Manson, A; Chandra, A; Hensiek, A; Veld, AHIT; Maw, A; Kelly, AM; Moore, A; Vonk Noordegraaf, A; Attwood, A; Herwadkar, A; Ghofrani, A; Houweling, AC; Girerd, B; Furie, B; Treacy, CM; Millar, CM; Sewell, C; Roughley, C; Titterton, C; Williamson, C; Hadinnapola, C; Deshpande, C; Toh, CH; Bacchelli, C; Patch, C; Geet, CV; Babbs, C; Bryson, C; Penkett, CJ; Rhodes, CJ; Watt, C; Bethune, C; Booth, C; Lentaigne, C; McJannet, C; Church, C; French, C; Samarghitean, C; Halmagyi, C; Gale, D; Greene, D; Hart, D; Allsup, D; Bennett, D; Edgar, D; Kiely, DG; Gosal, D; Perry, DJ; Keeling, D; Montani, D; Shipley, D; Whitehorn, D; Fletcher, D; Krishnakumar, D; Grozeva, D; Kumararatne, D; Thompson, D; Josifova, D; Maher, E; Wong, EKS; Murphy, E; Furnell, A; Huissoon, A; - view fewer (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Scientific Reports , 8 , Article 1300. 10.1038/s41598-017-14403-y.

Gale, DP; Kleta, R; (2018) MUC1 Makes Me Miserable. J Am Soc Nephrol 10.1681/ASN.2018070742.

Gast, C; Marinaki, A; Arenas-Hernandez, M; Campbell, S; Seaby, EG; Pengelly, RJ; Gale, DP; ... Venkat-Raman, G; + view all Gast, C; Marinaki, A; Arenas-Hernandez, M; Campbell, S; Seaby, EG; Pengelly, RJ; Gale, DP; Connor, TM; Bunyan, DJ; Hodaňová, K; Živná, M; Kmoch, S; Ennis, S; Venkat-Raman, G; - view fewer (2018) Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC Nephrology , 19 , Article 301. 10.1186/s12882-018-1107-y.

Graf, Stefan; Haimel, Matthias; Bleda, Marta; Hadinnapola, Charaka; Southgate, Laura; Li, Wei; Hodgson, Joshua; ... Morrell, Nicholas W; + view all Graf, Stefan; Haimel, Matthias; Bleda, Marta; Hadinnapola, Charaka; Southgate, Laura; Li, Wei; Hodgson, Joshua; Liu, Bin; Salmon, Richard M; Southwood, Mark; Machado, Rajiv D; Martin, Jennifer M; Treacy, Carmen M; Yates, Katherine; Daugherty, Louise C; Shamardina, Olga; Whitehorn, Deborah; Holden, Simon; Aldred, Micheala; Bogaard, Harm J; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A; Danesino, Cesare; Eyries, Melanie; Gall, Henning; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J Simon R; Girerd, Barbara; Houweling, Arjan C; Howard, Luke; Humbert, Marc; Kiely, David G; Kovacs, Gabor; Ross, Robert V MacKenzie; Moledina, Shahin; Montani, David; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Peacock, Andrew J; Pepke-Zaba, Joanna; Prokopenko, Inga; Rhodes, Christopher J; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Stein, Dan F; Suntharalingam, Jay; Swietlik, Emilia M; Toshner, Mark R; van Heel, David A; Noordegraaf, Anton Vonk; Waisfisz, Quinten; Wharton, John; Wort, Stephen J; Ouwehand, Willem H; Soranzo, Nicole; Lawrie, Allan; Upton, Paul D; Wilkins, Martin R; Trembath, Richard C; Morrell, Nicholas W; - view fewer (2018) Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nature Communications , 9 (1) , Article 1416. 10.1038/s41467-018-03672-4.

Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; ... Revel-Vilk, S; + view all Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; Charles, P; Mendonça, C; Nava, C; Pfundt, R; Sanchis-Juan, A; van Bokhoven, H; van Essen, A; van Ravenswaaij-Arts, C; Aitman, T; Bennett, D; Caulfield, M; Chinnery, P; Gale, D; Koziell, A; Kuijpers, TW; Laffan, MA; Maher, E; Markus, HS; Morrell, NW; Ouwehand, WH; Perry, DJ; Raymond, FL; Roberts, I; Smith, KGC; Thrasher, A; Watkins, H; Williamson, C; Woods, G; Ashford, S; Bradley, JR; Fletcher, D; Hammerton, T; James, R; Kingston, N; Penkett, CJ; Stirrups, K; Veltman, M; Young, T; Brown, M; Clements-Brod, N; Davis, J; Dewhurst, E; Dolling, H; Erwood, M; Frary, A; Linger, R; Martin, JM; Papadia, S; Rehnstrom, K; Stark, H; Allsup, D; Austin, S; Bakchoul, T; Bariana, TK; Bolton-Maggs, P; Chalmers, E; Collins, J; Collins, P; Erber, WN; Everington, T; Favier, R; Freson, K; Furie, B; Gattens, M; Gebhart, J; Gomez, K; Greene, D; Greinacher, A; Gresele, P; Hart, D; Heemskerk, JWM; Henskens, Y; Kazmi, R; Keeling, D; Kelly, AM; Lambert, MP; Lentaigne, C; Liesner, R; Makris, M; Mangles, S; Mathias, M; Millar, CM; Mumford, A; Nurden, P; Payne, J; Pasi, J; Peerlinck, K; Revel-Vilk, S; - view fewer (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. American Journal of Human Genetics , 103 (1) pp. 144-153. 10.1016/j.ajhg.2018.06.001.

Osborne, A; Breno, M; Ghiringhelli Borsa, N; Bu, F; Frémeaux-Bacchi, V; Gale, D; van den Heuvel, LP; ... Perkins, SJ; + view all Osborne, A; Breno, M; Ghiringhelli Borsa, N; Bu, F; Frémeaux-Bacchi, V; Gale, D; van den Heuvel, LP; Kavanagh, D; Noris, M; Pinto, S; Rallapalli, P; Remuzzi, G; Rodríguez de Cordoba, S; Ruiz, A; Smith, RJH; Vieira-Martins, P; Volokhina, E; Wilson, V; Goodship, THJ; Perkins, SJ; - view fewer (2018) Statistical validation of rare complement variants provides insights on the molecular basis of atypical haemolytic uraemic syndrome and C3 glomerulopathy. Journal of Immunology , 200 (7) pp. 2464-2478. 10.4049/jimmunol.1701695.

Reichold, M; Klootwijk, ED; Reinders, J; Otto, EA; Milani, M; Broeker, C; Laing, C; ... Kleta, R; + view all Reichold, M; Klootwijk, ED; Reinders, J; Otto, EA; Milani, M; Broeker, C; Laing, C; Wiesner, J; Devi, S; Zhou, W; Schmitt, R; Tegtmeier, I; Sterner, C; Doellerer, H; Renner, K; Oefner, PJ; Dettmer, K; Simbuerger, JM; Witzgall, R; Stanescu, HC; Dumitriu, S; Iancu, D; Patel, V; Mozere, M; Tekman, M; Jaureguiberry, G; Issler, N; Kesselheim, A; Walsh, SB; Gale, DP; Howie, AJ; Martins, JR; Hall, AM; Kasgharian, M; O'Brien, K; Ferreira, CR; Atwal, PS; Jain, M; Hammers, A; Charles-Edwards, G; Choe, C-U; Isbrandt, D; Cebrian-Serrano, A; Davies, B; Sandford, RN; Pugh, C; Konecki, DS; Povey, S; Bockenhauer, D; Lichter-Konecki, U; Gahl, WA; Unwin, RJ; Warth, R; Kleta, R; - view fewer (2018) Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. Journal of the American Society of Nephrology , 29 (7) pp. 1849-1858. 10.1681/ASN.2017111179.

Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; ... Maher, ER; + view all Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; Carss, K; Stephens, J; Stirrups, K; Penkett, C; Mapeta, R; Ashford, S; Megy, K; Shakeel, H; Ahmed, M; Adlard, J; Barwell, J; Brewer, C; Casey, RT; Armstrong, R; Cole, T; Evans, DG; Fostira, F; Greenhalgh, L; Hanson, H; Henderson, A; Hoffman, J; Izatt, L; Kumar, A; Kwong, A; Lalloo, F; Ong, KR; Paterson, J; Park, S-M; Chen-Shtoyerman, R; Searle, C; Side, L; Skytte, A-B; Snape, K; Woodward, ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz, MD; Maher, ER; - view fewer (2018) Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. The American Journal of Human Genetics , 103 (1) pp. 3-18. 10.1016/j.ajhg.2018.04.013.

2017

Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; ... Yu, P; + view all Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; Holder, GE; Cheetham, ME; Plagnol, V; Moore, AT; Raymond, FL; Matter, K; Balda, MS; Webster, AR; Black, G; Hall, G; Ingram, S; Gillespie, R; Manson, F; Sergouniotis, P; Inglehearn, C; Toomes, C; Ali, M; McKibbin, M; Poulter, J; Khan, K; Lord, E; Nemeth, A; Downes, S; Halford, S; Yu, J; Lise, S; Arno, G; Fiorentino, A; Ponitkos, N; Plagnol, V; Michaelides, M; Hardcastle, AJ; Cheetham, ME; Webster, AR; van Heyningen, V; Aitman, T; Alachkar, H; Ali, S; Allen, L; Allsup, D; Ambegaonkar, G; Anderson, J; Antrobus, R; Armstrong, R; Arno, G; Arumugakani, G; Ashford, S; Astle, W; Attwood, A; Austin, S; Bacchelli, C; Bakchoul, T; Bariana, TK; Baxendale, H; Bennett, D; Bethune, C; Bibi, S; Bitner-Glindzicz, M; Bleda, M; Boggard, H; Bolton-Maggs, P; Booth, C; Bradley, JR; Brady, A; Brown, M; Browning, M; Bryson, C; Burns, S; Calleja, P; Canham, N; Carmichael, J; Carss, K; Caulfield, M; Chalmers, E; Chandra, A; Chinnery, P; Chitre, M; Church, C; Clement, E; Clements-Brod, N; Clowes, V; Coghlan, G; Collins, P; Cooper, N; Creaser-Myers, A; DaCosta, R; Daugherty, L; Davies, S; Davis, J; De Vries, M; Deegan, P; Deevi, SVV; Deshpande, C; Devlin, L; Dewhurst, E; Doffinger, R; Dormand, N; Drewe, E; Edgar, D; Egner, W; Erber, WN; Erwood, M; Everington, T; Favier, R; Firth, H; Fletcher, D; Flinter, F; Fox, JC; Frary, A; Freson, K; Furie, B; Furnell, A; Gale, D; Gardham, A; Gattens, M; Ghali, N; Ghataorhe, PK; Ghurye, R; Gibbs, S; Gilmour, K; Gissen, P; Goddard, S; Gomez, K; Gordins, P; Gräf, S; Greene, D; Greenhalgh, A; Greinacher, A; Grigoriadou, S; Grozeva, D; Hackett, S; Hadinnapola, C; Hague, R; Haimel, M; Halmagyi, C; Hammerton, T; Hart, D; Hayman, G; Heemskerk, JWM; Henderson, R; Hensiek, A; Henskens, Y; Herwadkar, A; Holden, S; Holder, M; Holder, S; Hu, F; Huissoon, A; Humbert, M; Hurst, J; James, R; Jolles, S; Josifova, D; Kazmi, R; Keeling, D; Kelleher, P; Kelly, AM; Kennedy, F; Kiely, D; Kingston, N; Koziell, A; Krishnakumar, D; Kuijpers, TW; Kumararatne, D; Kurian, M; Laffan, MA; Lambert, MP; Allen, HL; Lawrie, A; Lear, S; Lees, M; Lentaigne, C; Liesner, R; Linger, R; Longhurst, H; Lorenzo, L; Machado, R; Mackenzie, R; MacLaren, R; Maher, E; Maimaris, J; Mangles, S; Manson, A; Mapeta, R; Markus, HS; Martin, J; Masati, L; Mathias, M; Matser, V; Maw, A; McDermott, E; McJannet, C; Meacham, S; Meehan, S; Megy, K; Mehta, S; Michaelides, M; Millar, CM; Moledina, S; Moore, A; Morrell, N; Mumford, A; Murng, S; Murphy, E; Nejentsev, S; Noorani, S; Nurden, P; Oksenhendler, E; Ouwehand, WH; Papadia, S; Park, S-M; Parker, A; Pasi, J; Patch, C; Paterson, J; Payne, J; Peacock, A; Peerlinck, K; Penkett, CJ; Pepke-Zaba, J; Perry, DJ; Pollock, V; Polwarth, G; Ponsford, M; Qasim, W; Quinti, I; Rankin, S; Rankin, J; Raymond, FL; Rehnstrom, K; Reid, E; Rhodes, CJ; Richards, M; Richardson, S; Richter, A; Roberts, I; Rondina, M; Rosser, E; Roughley, C; Rue-Albrecht, K; Samarghitean, C; Sanchis-Juan, A; Sandford, R; Santra, S; Sargur, R; Savic, S; Schulman, S; Schulze, H; Scott, R; Scully, M; Seneviratne, S; Sewell, C; Shamardina, O; Shipley, D; Simeoni, I; Sivapalaratnam, S; Smith, K; Sohal, A; Southgate, L; Staines, S; Staples, E; Stauss, H; Stein, P; Stephens, J; Stirrups, K; Stock, S; Suntharalingam, J; Tait, RC; Talks, K; Tan, Y; Thachil, J; Thaventhiran, J; Thomas, E; Thomas, M; Thompson, D; Thrasher, A; Tischkowitz, M; Titterton, C; Toh, C-H; Toshner, M; Treacy, C; Trembath, R; Tuna, S; Turek, W; Turro, E; Van Geet, C; Veltman, M; Vogt, J; von Ziegenweldt, J; Noordegraaf, AV; Wakeling, E; Wanjiku, I; Warner, TQ; Wassmer, E; Watkins, H; Webster, A; Welch, S; Westbury, S; Wharton, J; Whitehorn, D; Wilkins, M; Willcocks, L; Williamson, C; Woods, G; Wort, J; Yeatman, N; Yong, P; Young, T; Yu, P; - view fewer (2017) Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. The American Journal of Human Genetics , 100 (2) pp. 334-342. 10.1016/j.ajhg.2016.12.014.

Carss, KJ; Arno, G; Erwood, M; Stephens, J; Sanchis-Juan, A; Hull, S; Megy, K; ... Raymond, FL; + view all Carss, KJ; Arno, G; Erwood, M; Stephens, J; Sanchis-Juan, A; Hull, S; Megy, K; Grozeva, D; Dewhurst, E; Malka, S; Plagnol, V; Penkett, C; Stirrups, K; Rizzo, R; Wright, G; Josifova, D; Bitner-Glindzicz, M; Scott, RH; Clement, E; Allen, L; Armstrong, R; Brady, AF; Carmichael, J; Chitre, M; Henderson, RHH; Hurst, J; MacLaren, RE; Murphy, E; Paterson, J; Rosser, E; Thompson, DA; Wakeling, E; Ouwehand, WH; Michaelides, M; Moore, AT; Webster, AR; Raymond, FL; - view fewer (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics , 100 (1) pp. 75-90. 10.1016/j.ajhg.2016.12.003.

Chan, MMY; Barnicoat, A; Mumtaz, F; Aitchison, M; Side, L; Brittain, H; Bates, AWH; Chan, MMY; Barnicoat, A; Mumtaz, F; Aitchison, M; Side, L; Brittain, H; Bates, AWH; Gale, DP; - view fewer (2017) Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report. BMC Medical Genetics , 18 , Article 79. 10.1186/s12881-017-0436-1.

Connor, TM; Hoer, S; Mallett, A; Gale, DP; Gomez-Duran, A; Posse, V; Antrobus, R; ... Maxwell, PH; + view all Connor, TM; Hoer, S; Mallett, A; Gale, DP; Gomez-Duran, A; Posse, V; Antrobus, R; Moreno, P; Sciacovelli, M; Frezza, C; Duff, J; Sheerin, NS; Sayer, JA; Ashcroft, M; Wiesener, MS; Hudson, G; Gustafsson, CM; Chinnery, PF; Maxwell, PH; - view fewer (2017) Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLOS Genetics , 13 (3) , Article e1006620. 10.1371/journal.pgen.1006620.

Gale, DP; Molyneux, K; Wimbury, D; Higgins, P; Levine, AP; Caplin, B; Ferlin, A; ... Barratt, J; + view all Gale, DP; Molyneux, K; Wimbury, D; Higgins, P; Levine, AP; Caplin, B; Ferlin, A; Yin, P; Nelson, CP; Stanescu, H; Samani, NJ; Kleta, R; Yu, X; Barratt, J; - view fewer (2017) Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1. J Am Soc Nephrol , 28 (7) pp. 2158-2166. 10.1681/ASN.2016091043.

Hadinnapola, C; Bleda, M; Haimel, M; Screaton, N; Swift, A; Dorfmuller, P; Preston, SD; ... Morrell, NW; + view all Hadinnapola, C; Bleda, M; Haimel, M; Screaton, N; Swift, A; Dorfmuller, P; Preston, SD; Southwood, M; Hernandez-Sanchez, J; Martin, J; Treacy, C; Yates, K; Bogaard, H; Church, C; Coghlan, G; Condliffe, R; Corris, PA; Gibbs, S; Girerd, B; Holden, S; Humbert, M; Kiely, DG; Lawrie, A; Machado, R; Ross, RM; Moledina, S; Montani, D; Newnham, M; Peacock, A; Pepke-Zaba, J; Rayner-Matthews, P; Shamardina, O; Soubrier, F; Southgate, L; Suntharalingam, J; Toshner, M; Trembath, R; Noordegraaf, AV; Wilkins, MR; Wort, SJ; Wharton, J; Graf, S; Morrell, NW; - view fewer (2017) Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Circulation , 136 (21) pp. 2022-2033. 10.1161/CIRCULATIONAHA.117.028351.

Khan, KN; El-Asrag, ME; Ku, CA; Holder, GE; McKibbin, M; Arno, G; Poulter, JA; ... for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise, .; + view all Khan, KN; El-Asrag, ME; Ku, CA; Holder, GE; McKibbin, M; Arno, G; Poulter, JA; Carss, K; Bommireddy, T; Bagheri, S; Bakall, B; Scholl, HP; Raymond, FL; Toomes, C; Inglehearn, CF; Pennesi, ME; Moore, AT; Michaelides, M; Webster, AR; Ali, M; for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise, .; - view fewer (2017) Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Investigative Ophthalmology & Visual Science , 58 (7) pp. 2906-2914. 10.1167/iovs.16-20608.

Papazachariou, L; Papagregoriou, G; Hadjipanagi, D; Demosthenous, P; Voskarides, K; Koutsofti, C; Stylianou, K; ... Deltas, C; + view all Papazachariou, L; Papagregoriou, G; Hadjipanagi, D; Demosthenous, P; Voskarides, K; Koutsofti, C; Stylianou, K; Ioannou, P; Xydakis, D; Tzanakis, I; Papadaki, A; Kallivretakis, N; Nikolakakis, N; Perysinaki, G; Gale, DP; Diamantopoulos, A; Goudas, P; Goumenos, D; Soloukides, A; Boletis, I; Melexopoulou, C; Georgaki, E; Frysira, E; Komianou, F; Grekas, D; Paliouras, C; Alivanis, P; Vergoulas, G; Pierides, A; Daphnis, E; Deltas, C; - view fewer (2017) Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. Clinical Genetics , 92 (5) 10.1111/cge.13077.

Scully, M; Cataland, S; Coppo, P; de la Rubia, J; Friedman, KD; Kremer Hovinga, J; Lämmle, B; ... International Working Group for Thrombotic Thrombocytopenic Purp, .; + view all Scully, M; Cataland, S; Coppo, P; de la Rubia, J; Friedman, KD; Kremer Hovinga, J; Lämmle, B; Matsumoto, M; Pavenski, K; Sadler, E; Sarode, R; Wu, H; International Working Group for Thrombotic Thrombocytopenic Purp, .; - view fewer (2017) Consensus on the standardization of terminology in thrombotic thrombocytopenic purpura and related thrombotic microangiopathies. Journal of Thrombosis and Haemostasis , 15 (2) pp. 312-322. 10.1111/jth.13571.

Torres, VE; Chapman, AB; Devuyst, O; Gansevoort, RT; Perrone, RD; Koch, G; Ouyang, J; ... REPRISE Trial Investigators, .; + view all Torres, VE; Chapman, AB; Devuyst, O; Gansevoort, RT; Perrone, RD; Koch, G; Ouyang, J; McQuade, RD; Blais, JD; Czerwiec, FS; Sergeyeva, O; REPRISE Trial Investigators, .; - view fewer (2017) Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. New England Journal of Medicine , 377 (20) pp. 1930-1942. 10.1056/NEJMoa1710030.

Voskarides, K; Stefanou, C; Pieri, M; Demosthenous, P; Felekkis, K; Arsali, M; Athanasiou, Y; ... Deltas, C; + view all Voskarides, K; Stefanou, C; Pieri, M; Demosthenous, P; Felekkis, K; Arsali, M; Athanasiou, Y; Xydakis, D; Stylianou, K; Daphnis, E; Goulielmos, G; Loizou, P; Savige, J; Höhne, M; Völker, LA; Benzing, T; Maxwell, PH; Gale, DP; Gorski, M; Böger, C; Kollerits, B; Kronenberg, F; Paulweber, B; Zavros, M; Pierides, A; Deltas, C; - view fewer (2017) A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. PLoS One , 12 (3) , Article e0174274. 10.1371/journal.pone.0174274.

2016

Ai, Z; Li, M; Liu, W; Foo, JN; Mansouri, O; Yin, P; Zhou, Q; ... Yu, X; + view all Ai, Z; Li, M; Liu, W; Foo, JN; Mansouri, O; Yin, P; Zhou, Q; Tang, X; Dong, X; Feng, S; Xu, R; Zhong, Z; Chen, J; Wan, J; Lou, T; Yu, J; Zhou, Q; Fan, J; Mao, H; Gale, D; Barratt, J; Armour, JA; Liu, J; Yu, X; - view fewer (2016) Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction. Science Translational Medicine , 8 (345) , Article 345ra88. 10.1126/scitranslmed.aaf2106.

Gale, DP; Kavanagh, D; McGlasson, S; Jury, A; Williams, J; Scolding, N; Bellamy, C; ... Hunt, DPJ; + view all Gale, DP; Kavanagh, D; McGlasson, S; Jury, A; Williams, J; Scolding, N; Bellamy, C; Gunther, C; Ritchie, D; Kanwar, YS; Challis, R; Buist, H; Overell, J; Weller, B; Flossman, O; Blunden, M; Meyer, E; Krucker, T; Evans, SJ; Campbell, IL; Jackson, AP; Chandran, S; Hunt, DPJ; - view fewer (2016) Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature. Blood , 128 (24) pp. 2824-2833. 10.1182/blood-2016-05-715987.

Gale, DP; Oygar, DD; Lin, F; Oygar, PD; Khan, N; Connor, TM; Lapsley, M; ... Neild, GH; + view all Gale, DP; Oygar, DD; Lin, F; Oygar, PD; Khan, N; Connor, TM; Lapsley, M; Maxwell, PH; Neild, GH; - view fewer (2016) A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. Nephrology Dialysis Transplantation , 31 (11) pp. 1908-1914. 10.1093/ndt/gfw051.

Goodship, TH; Cook, HT; Fakhouri, F; Fervenza, FC; Frémeaux-Bacchi, V; Kavanagh, D; Nester, CM; ... Conference Participants; + view all Goodship, TH; Cook, HT; Fakhouri, F; Fervenza, FC; Frémeaux-Bacchi, V; Kavanagh, D; Nester, CM; Noris, M; Pickering, MC; Rodríguez de Córdoba, S; Roumenina, LT; Sethi, S; Smith, RJ; Conference Participants; - view fewer (2016) Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney International , 91 (3) pp. 539-551. 10.1016/j.kint.2016.10.005.

Gross, O; Kashtan, CE; Rheault, MN; Flinter, F; Savige, J; Miner, JH; Torra, R; ... Lennon, R; + view all Gross, O; Kashtan, CE; Rheault, MN; Flinter, F; Savige, J; Miner, JH; Torra, R; Ars, E; Deltas, C; Savva, I; Perin, L; Renieri, A; Ariani, F; Mari, F; Baigent, C; Judge, P; Knebelman, B; Heidet, L; Lagas, S; Blatt, D; Ding, J; Zhang, Y; Gale, DP; Prunotto, M; Xue, Y; Schachter, AD; Morton, LC; Blem, J; Huang, M; Liu, S; Vallee, S; Renault, D; Schifter, J; Skelding, J; Gear, S; Friede, T; Turner, AN; Lennon, R; - view fewer (2016) Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association , 32 (6) pp. 916-924. 10.1093/ndt/gfw095.

Kavanagh, D; McGlasson, S; Jury, A; Williams, J; Scolding, N; Bellamy, C; Gunther, C; ... Hunt, DPJ; + view all Kavanagh, D; McGlasson, S; Jury, A; Williams, J; Scolding, N; Bellamy, C; Gunther, C; Ritchie, D; Gale, DP; Kanwar, YS; Challis, R; Buist, H; Overell, J; Weller, B; Flossmann, O; Blunden, M; Meyer, EP; Krucker, T; Evans, SJW; Campbell, IL; Jackson, AP; Chandran, S; Hunt, DPJ; - view fewer (2016) Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature. Blood , 128 (24) pp. 2824-2833. 10.1182/blood-2016-05-715987.

Lin, FJ; Lu, W; Gale, D; Yao, Y; Zou, R; Bian, F; Jiang, GR; (2016) Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Experimental and Therapeutic Medicine , 11 (4) pp. 1249-1252. 10.3892/etm.2016.3035.

Swift, O; Vilar, E; Rahman, B; Side, L; Gale, DP; (2016) Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis. Genetic Testing and Molecular Biomarkers , 20 (12) 10.1089/gtmb.2016.0050.

2015

Chan, Melanie MY; Gale, Daniel P; (2015) Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century. Clinical Medicine , 15 (6) pp. 576-580. 10.7861/clinmedicine.15-6-576.

Edwards, Noel; Rice, Sarah J; Raman, Shreya; Hynes, Ann Marie; Srivastava, Shalabh; Moore, Iain; Al-Hamed, Mohamed; ... Sayer, John A; + view all Edwards, Noel; Rice, Sarah J; Raman, Shreya; Hynes, Ann Marie; Srivastava, Shalabh; Moore, Iain; Al-Hamed, Mohamed; Xu, Yaobo; Santibanez-Koref, Mauro; Thwaites, David T; Gale, Daniel P; Sayer, John A; - view fewer (2015) A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'. Clinical Kidney Journal , 8 (1) pp. 113-119. 10.1093/ckj/sfu129.

Levine, AP; Connor, TM; Oygar, DD; Neild, GH; Segal, AW; Maxwell, PH; Gale, DP; (2015) Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies. BMC Genomics , 16 , Article 163. 10.1186/s12864-015-1360-4.

Levine, AP; Connor, TM; Oygar, DD; Neild, GH; Segal, AW; Maxwell, PH; Gale, DP; (2015) Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies. BMC Genomics , 16 , Article 163. 10.1186/s12864-015-1360-4.

Phillips, EH; Westwood, JP; Brocklebank, V; Wong, EKS; Tellez, JO; Marchbank, KJ; Mcguckin, S; ... Scully, MA; + view all Phillips, EH; Westwood, JP; Brocklebank, V; Wong, EKS; Tellez, JO; Marchbank, KJ; Mcguckin, S; Gale, DP; Connolly, J; Goodship, THJ; Kavanagh, D; Scully, MA; - view fewer (2015) The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies. Journal of Thrombosis and Haemostasis , 14 (1) pp. 175-185. 10.1111/jth.13189.

2014

Adam, J; Connor, TM; Wood, K; Lewis, D; Naik, R; Gale, DP; Sayer, JA; (2014) Genetic testing can resolve diagnostic confusion in Alport syndrome. Clinical Kidney Journal , 7 (2) 197 - 200. 10.1093/ckj/sft144.

Kiryluk, Krzysztof; Li, Yifu; Scolari, Francesco; Sanna-Cherchi, Simone; Choi, Murim; Verbitsky, Miguel; Fasel, David; ... Gharavi, Ali G; + view all Kiryluk, Krzysztof; Li, Yifu; Scolari, Francesco; Sanna-Cherchi, Simone; Choi, Murim; Verbitsky, Miguel; Fasel, David; Lata, Sneh; Prakash, Sindhuri; Shapiro, Samantha; Fischman, Clara; Snyder, Holly J; Appel, Gerald; Izzi, Claudia; Viola, Battista Fabio; Dallera, Nadia; Del Vecchio, Lucia; Barlassina, Cristina; Salvi, Erika; Bertinetto, Francesca Eleonora; Amoroso, Antonio; Savoldi, Silvana; Rocchietti, Marcella; Amore, Alessandro; Peruzzi, Licia; Coppo, Rosanna; Salvadori, Maurizio; Ravani, Pietro; Magistroni, Riccardo; Ghiggeri, Gian Marco; Caridi, Gianluca; Bodria, Monica; Lugani, Francesca; Allegri, Landino; Delsante, Marco; Maiorana, Mariarosa; Magnano, Andrea; Frasca, Giovanni; Boer, Emanuela; Boscutti, Giuliano; Ponticelli, Claudio; Mignani, Renzo; Marcantoni, Carmelita; Di Landro, Domenico; Santoro, Domenico; Pani, Antonello; Polci, Rosaria; Feriozzi, Sandro; Chicca, Silvana; Galliani, Marco; Gigante, Maddalena; Gesualdo, Loreto; Zamboli, Pasquale; Battaglia, Giovanni Giorgio; Garozzo, Maurizio; Maixnerova, Dita; Tesar, Vladimir; Eitner, Frank; Rauen, Thomas; Floege, Juergen; Kovacs, Tibor; Nagy, Judit; Mucha, Krzysztof; Paczek, Leszek; Zaniew, Marcin; Mizerska-Wasiak, Malgorzata; Roszkowska-Blaim, Maria; Pawlaczyk, Krzysztof; Gale, Daniel; Barratt, Jonathan; Thibaudin, Lise; Berthoux, Francois; Canaud, Guillaume; Boland, Anne; Metzger, Marie; Panzer, Ulf; Suzuki, Hitoshi; Goto, Shin; Narita, Ichiei; Caliskan, Yasar; Xie, Jingyuan; Hou, Ping; Chen, Nan; Zhang, Hong; Wyatt, Robert J; Novak, Jan; Julian, Bruce A; Feehally, John; Stengel, Benedicte; Cusi, Daniele; Lifton, Richard P; Gharavi, Ali G; - view fewer (2014) Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. Nature Genetics , 46 (11) pp. 1187-1196. 10.1038/ng.3118.

Lin, F; Bian, F; Zou, J; Wu, X; Shan, J; Lu, W; Yao, Y; ... Gale, DP; + view all Lin, F; Bian, F; Zou, J; Wu, X; Shan, J; Lu, W; Yao, Y; Jiang, G; Gale, DP; - view fewer (2014) Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease. BMC Nephrol , 15 , Article 175. 10.1186/1471-2369-15-175.

Marshall, A; Gale, Daniel; Rahmatulla, S; Bhagani, S; Jones, GL; (2014) Esophageal Tuberculosis Infection in a Simultaneous Pancreas and Kidney Transplant Recipient. General Medicine: Open Access , 2 (4) 10.4172/2327-5146.1000144.

Miner, Jeffrey H; Baigent, Colin; Flinter, Frances; Gross, Oliver; Judge, Parminder; Kashtan, Clifford E; Lagas, Sharon; ... Gear, Susie; + view all Miner, Jeffrey H; Baigent, Colin; Flinter, Frances; Gross, Oliver; Judge, Parminder; Kashtan, Clifford E; Lagas, Sharon; Savige, Judith; Blatt, Dave; Ding, Jie; Gale, Daniel P; Midgley, Julian P; Povey, Sue; Prunotto, Marco; Renault, Daniel; Skelding, Jules; Turner, A Neil; Gear, Susie; - view fewer (2014) The 2014 International Workshop on Alport Syndrome. Kidney International , 86 (4) pp. 679-684. 10.1038/ki.2014.229.

2013

Connor, TM; Oygar, DD; Gale, DP; Steenkamp, R; Nitsch, D; Neild, GH; Maxwell, PH; (2013) Incidence of end-stage renal disease in the Turkish-cypriot population of northern cyprus: a population based study. PLoS One , 8 (1) , Article e54394. 10.1371/journal.pone.0054394.

Pickering, Matthew C; D'Agati, Vivette D; Nester, Carla M; Smith, Richard J; Haas, Mark; Appel, Gerald B; Alpers, Charles E; ... Cook, H Terence; + view all Pickering, Matthew C; D'Agati, Vivette D; Nester, Carla M; Smith, Richard J; Haas, Mark; Appel, Gerald B; Alpers, Charles E; Bajema, Ingeborg M; Bedrosian, Camille; Braun, Michael; Doyle, Mittie; Fakhouri, Fadi; Fervenza, Fernando C; Fogo, Agnes B; Fremeaux-Bacchi, Veronique; Gale, Daniel P; de Jorge, Elena Goicoechea; Griffin, Gene; Harris, Claire L; Holers, V Michael; Johnson, Sally; Lavin, Peter J; Medjeral-Thomas, Nicholas; Morgan, B Paul; Nast, Cynthia C; Noel, Laure-Helene; Peters, D Keith; Rodriguez de Cordoba, Santiago; Servais, Aude; Sethi, Sanjeev; Song, Wen-Chao; Tamburini, Paul; Thurman, Joshua M; Zavros, Michael; Cook, H Terence; - view fewer (2013) C3 glomerulopathy: consensus report. Kidney International , 84 (6) pp. 1079-1089. 10.1038/ki.2013.377.

Voskarides, K; Demosthenous, P; Papazachariou, L; Arsali, M; Athanasiou, Y; Zavros, M; Stylianou, K; ... Deltas, C; + view all Voskarides, K; Demosthenous, P; Papazachariou, L; Arsali, M; Athanasiou, Y; Zavros, M; Stylianou, K; Xydakis, D; Daphnis, E; Gale, DP; Maxwell, PH; Elia, A; Pattaro, C; Pierides, A; Deltas, C; - view fewer (2013) Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes. PLoS One , 8 (3) , Article e57925. 10.1371/journal.pone.0057925.

2010

Gale, D.; (2010) Genetic investigation of kidney disease. Doctoral thesis , UCL (University College London).

2009

Volke, M; Gale, DP; Maegdefrau, U; Schley, G; Klanke, B; (2009) Evidence for a Lack of a Direct Transcriptional Suppression of the Iron Regulatory Peptide Hepcidin by Hypoxia-Inducible Factors. PLOS ONE , 4 (11) , Article e7875. 10.1371/journal.pone.0007875.

This list was generated on Sun Dec 21 16:05:11 2025 GMT.