Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies-Reference-Cited by-同舟云学术

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Published:2015-12-16 Issue:3 Volume:53 Page:208-214
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Schueler Markus,Halbritter Jan,Phelps Ian G,Braun Daniela A,Otto Edgar A,Porath Jonathan D,Gee Heon Yung,Shendure Jay,O'Roak Brian J,Lawson Jennifer A,Nabhan Marwa M,Soliman Neveen A,Doherty Dan,Hildebrandt Friedhelm

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. Nephronophthisis: disease mechanisms of a ciliopathy;Hildebrandt;J Am Soc Nephrol,2009

2. Nephronophthisis;Wolf;Pediatr Nephrol,2011

3. Ciliopathies;Hildebrandt;N Engl J Med,2011

4. Clinical and molecular features of Joubert syndrome and related disorders;Parisi;Am J Med Genet Part C Sem Med Genet,2009

5. Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes;Johnson;J Med Genet,2003

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