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Research |
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
- Weibin Zhou
- , Edgar A Otto
- , Andrew Cluckey
- , Rannar Airik
- , Toby W Hurd
- , Moumita Chaki
- , Katrina Diaz
- , Francis P Lach
- , Geoffrey R Bennett
- , Heon Yung Gee
- , Amiya K Ghosh
- , Sivakumar Natarajan
- , Supawat Thongthip
- , Uma Veturi
- , Susan J Allen
- , Sabine Janssen
- , Gokul Ramaswami
- , Joanne Dixon
- , Felix Burkhalter
- , Martin Spoendlin
- , Holger Moch
- , Michael J Mihatsch
- , Jerome Verine
- , Richard Reade
- , Hany Soliman
- , Michel Godin
- , Denes Kiss
- , Guido Monga
- , Gianna Mazzucco
- , Kerstin Amann
- , Ferruh Artunc
- , Ronald C Newland
- , Thorsten Wiech
- , Stefan Zschiedrich
- , Tobias B Huber
- , Andreas Friedl
- , Gisela G Slaats
- , Jaap A Joles
- , Roel Goldschmeding
- , Joseph Washburn
- , Rachel H Giles
- , Shawn Levy
- , Agata Smogorzewska
- & Friedhelm Hildebrandt
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Research |
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- Edgar A Otto
- , Toby W Hurd
- , Rannar Airik
- , Moumita Chaki
- , Weibin Zhou
- , Corinne Stoetzel
- , Suresh B Patil
- , Shawn Levy
- , Amiya K Ghosh
- , Carlos A Murga-Zamalloa
- , Jeroen van Reeuwijk
- , Stef J F Letteboer
- , Liyun Sang
- , Rachel H Giles
- , Qin Liu
- , Karlien L M Coene
- , Alejandro Estrada-Cuzcano
- , Rob W J Collin
- , Heather M McLaughlin
- , Susanne Held
- , Jennifer M Kasanuki
- , Gokul Ramaswami
- , Jinny Conte
- , Irma Lopez
- , Joseph Washburn
- , James MacDonald
- , Jinghua Hu
- , Yukiko Yamashita
- , Eamonn R Maher
- , Lisa M Guay-Woodford
- , Hartmut P H Neumann
- , Nicholas Obermüller
- , Robert K Koenekoop
- , Carsten Bergmann
- , Xiaoshu Bei
- , Richard A Lewis
- , Nicholas Katsanis
- , Vanda Lopes
- , David S Williams
- , Robert H Lyons
- , Chi V Dang
- , Daniela A Brito
- , Mónica Bettencourt Dias
- , Xinmin Zhang
- , James D Cavalcoli
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Eric A Pierce
- , Peter K Jackson
- , Corinne Antignac
- , Sophie Saunier
- , Ronald Roepman
- , Helene Dollfus
- , Hemant Khanna
- & Friedhelm Hildebrandt
