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Research Overview
We work on inherited renal disease.
We look for new genes in families with interesting but undiagnosed real diseases.
We curate a database for the second commonest cause of inherited renal failure (Alport syndrome).
We study cell lines made from patients with inherited renal disease to understand how the underlying mutations cause disease.
We test out new treatements in these cell lines to try to modify the effect of mutations.
We use gene editing in these cell lines an dalso make stem cells with our collaborators to determine whether this form of treatement works.
In addition we look at ocular features in inherited renal disease, and what they tell us about disease pathogenesis. We also use the retinal photographs to test for uncontrolled hypertension.
We work on inherited renal disease.
We look for new genes in families with interesting but undiagnosed real diseases.
We curate a database for the second commonest cause of inherited renal failure (Alport syndrome).
We study cell lines made from patients with inherited renal disease to understand how the underlying mutations cause disease.
We test out new treatements in these cell lines to try to modify the effect of mutations.
We use gene editing in these cell lines an dalso make stem cells with our collaborators to determine whether this form of treatement works.
In addition we look at ocular features in inherited renal disease, and what they tell us about disease pathogenesis. We also use the retinal photographs to test for uncontrolled hypertension.
Research Interests
Papers共 267 篇Author StatisticsCo-AuthorSimilar Experts
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期刊级别
合作者
合作机构
Pediatric Nephrologyno. 5 (2024): 1327-1346
Sergio Daga,Jie Ding,Constantinos Deltas,Judy Savige,Beata S. Lipska-Zietkiewicz,Julia Hoefele,Frances Flinter,Daniel P. Gale,Marina Aksenova,Hirofumi Kai,Laura Perin,Moumita Barua,Roser Torra,Jeff H. Miner,Laura Massella,Danica Galesic Ljubanovic,Rachel Lennon,Andre B. Weinstock,Bertrand Knebelmann,Agne Cerkauskaite,Susie Gear,Oliver Gross,A. Neil Turner,Margherita Baldassarri,Anna Maria Pinto, Alessandra Renieri
EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 130-130
AMERICAN JOURNAL OF KIDNEY DISEASESno. 6 (2024): 816-824
American Journal of Ophthalmology (2024): 247-253
Judy Savige,Helen Storey,Elizabeth Watson,Jens Michael Hertz,Constantinos Deltas, Alessandra Renieri,Francesca Mari,Pascale Hilbert,Pavlina Plevova,Peter Byers,Agne Cerkauskaite,Martin Gregory,Rimante Cerkauskiene,Danica Galesic Ljubanovic,Francesca Becherucci,Carmela Errichiello,Laura Massella,Valeria Aiello,Rachel Lennon,Louise Hopkinson,Ania Koziell,Adrian Lungu,Hansjorg Martin Rothe,Julia Hoefele,Miriam Zacchia,Tamara Nikuseva Martic,Asheeta Gupta,Albertien van Eerde,Susie Gear,Samuela Landini,Viviana Palazzo,Laith al-Rabadi,Kathleen Claes,Anniek Corveleyn,Evelien Van Hoof,Micheel van Geel,Maggie Williams,Emma Ashton, Hendica Belge,Elisabeth Ars,Agnieszka Bierzynska,Concetta Gangemi,Beata S. Lipska-Zietkiewicz
EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 132-132
FRONTIERS IN MEDICINE (2023)
Joseph Phillipos,Thao Vi Luong, Deborah Chang,Suresh Varadarajan, Paul Howat,Lauren Hodgson,Deb Colville,Judy Savige
Frontiers in Medicine (2023)
J Savige, Lipska-Zietkiewicz BS,E Watson,Hertz JM,C Deltas, F Mari,P Hilbert, P Plevova, P Byers,A Cerkauskaite, M Gregory,R Cerkauskiene, Ljubanovic DG,F Becherucci, C Errichiello,L Massella, V Aiello,R Lennon, L Hopkinson, A Koziell,A Lungu, Rothe HM, J Hoefele,M Zacchia, Martic TN, A Gupta,van Eerde A, S Gear,S Landini,V Palazzo, L al-Rabadi,K Claes,A Corveleyn, Van Hoof E, van Geel M, M Williams,E Ashton, H Belge,Ars E, A Bierzynska, C Gangemi,A Renieri,H Storey,F Flinter
Clinical Journal of The American Society of Nephrologyno. 4 (2023): 510-510
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Author Statistics
#Papers: 267
#Citation: 6506
H-Index: 38
G-Index: 73
Sociability: 7
Diversity: 0
Activity: 2
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