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Multidisciplinary Training in Chronic Kidney Disease: from genetic modifiers to drug discovery

Deliverables

Publications

Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin

Author(s): Christina B. Joseph, Marta Mariniello, Ayumi Yoshifuji, Guglielmo Schiano, Jennifer Lake, Jonathan Marten, Anne Richmond, Jennifer E. Huffman, Archie Campbell, Sarah E. Harris, Stephan Troyanov, Massimiliano Cocca, Antonietta Robino, Sébastien Thériault, Kai-Uwe Eckardt, Matthias Wuttke, Yurong Cheng, Tanguy Corre, Ivana Kolcic, Corrinda Black, Vanessa Bruat, Maria Pina Concas, Cinzia Sala, Stef
Published in: The Journal of the American Society of Nephrology, Issue Vol. 33, Issue 3 March 2022, 2022, Page(s) 511-529, ISSN 1533-3450
Publisher: American Society of Nephrology
DOI: 10.1681/asn.2021040491

Comparison of glomerular filtration rate estimating formulas among Japanese adults without kidney disease

Author(s): Ryosuke Fujii, Cristian Pattaro, Yoshiki Tsuboi, Yuya Ishiharab Roberto Melotti, Hiroya Yamada, Yoshitaka Ando, Hiroaki Ishikawa, Koji Ohashi, Shuji Hashimoto Nobuyuki Hamajima, Giulia Barbieri, Dariush Ghasemi-Semeskandeh, Koji Suzukib
Published in: Clinical Biochimestry, 2022, ISSN 0009-9120
Publisher: Elsevier BV
DOI: 10.1101/2022.12.16.22283452

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease

Author(s): Guglielmo Schiano Jennifer Lake Marta Mariniello Céline Schaeffer Marianne Harvent Luca Rampoldi Eric Olinger Olivier Devuyst
Published in: EMBO Molecular Medicine, 2023, ISSN 1757-4684
Publisher: EMBOPress
DOI: 10.15252/emmm.202318242

Enhanced sequencing with UMIs

Author(s): Claudio Novella-Raussell Magda Grudniewska-Lauwton
Published in: 2021
Publisher: Genomescan

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