Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease-Reference-Cited by-同舟云学术

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Published:2013-04-11 Issue:5 Volume:34 Page:714-724
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Schmidts Miriam¹,Frank Valeska²,Eisenberger Tobias²,al Turki Saeed³,Bizet Albane A.⁴⁵,Antony Dinu¹,Rix Suzanne¹,Decker Christian²,Bachmann Nadine²,Bald Martin⁶,Vinke Tobias⁷,Toenshoff Burkhard⁷,Di Donato Natalia⁸,Neuhann Theresa⁸,Hartley Jane L.⁹,Maher Eamonn R.¹⁰,Bogdanović Radovan¹¹¹²,Peco‐Antić Amira¹³,Mache Christoph¹⁴,Hurles Matthew E.³,Joksić Ivana¹⁵,Guć‐Šćekić Marija¹¹¹⁶,Dobricic Jelena¹⁷,Brankovic‐Magic Mirjana¹⁷,Bolz Hanno J.²¹⁸,Pazour Gregory J.¹⁹,Beales Philip L.¹,Scambler Peter J.¹,Saunier Sophie⁴⁵,Mitchison Hannah M.¹,Bergmann Carsten²²⁰,

Affiliation:

1. Molecular Medicine Unit University College London (UCL) Institute of Child Health London UK

2. Center for Human Genetics Bioscientia Ingelheim Germany

3. The Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton Cambridge UK

4. INSERM, U983 Hôpital Necker‐Enfants Malades Paris France

5. Université Paris Descartes‐Sorbonne Paris Cité Institut Imagine Paris France

6. Department of Pediatric Nephrology Olgahospital Klinikum Stuttgart Germany

7. Department of Pediatrics University Children's Hospital Heidelberg Germany

8. Institute of Human Genetics Dresden University Germany

9. Liver Unit Birmingham Children's Hospital Birmingham UK

10. Department of Medical and Molecular Genetics and Centre for Rare Diseases and Personalised Medicine University of Birmingham School of Medicine Birmingham UK

11. Department of Nephrology Institute of Mother and Child Health Care of Serbia “Dr Vukan, Čupić“ Belgrade Serbia

12. Faculty of Medicine University of Belgrade Belgrade Serbia

13. Department of Nephrology University Children's Hospital Belgrade Serbia

14. Department of Pediatrics Medical University Graz Graz Austria

15. Clinic for Gynecology and Obstetrics University Hospital Belgrade Serbia

16. Faculty of Biology University of Belgrade Belgrade Serbia

17. Institute for Oncology and Radiology of Serbia Belgrade Serbia

18. Department of Human Genetics University of Cologne Cologne Germany

19. Program in Molecular Medicine University of Massachusetts Medical School Worcester Massachusetts

20. Center for Clinical Research University Hospital Freiburg Freiburg Germany

Publisher

Wiley