Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia-Reference-Cited by-同舟云学术

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

Published:2012-10 Issue:4 Volume:91 Page:685-693
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Horani Amjad,Druley Todd E.,Zariwala Maimoona A.,Patel Anand C.,Levinson Benjamin T.,Van Arendonk Laura G.,Thornton Katherine C.,Giacalone Joe C.,Albee Alison J.,Wilson Kate S.,Turner Emily H.,Nickerson Deborah A.,Shendure Jay,Bayly Philip V.,Leigh Margaret W.,Knowles Michael R.,Brody Steven L.,Dutcher Susan K.,Ferkol Thomas W.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. When cilia go bad: cilia defects and ciliopathies;Fliegauf;Nat. Rev. Mol. Cell Biol.,2007

2. The vertebrate primary cilium in development, homeostasis, and disease;Gerdes;Cell,2009

3. Ciliopathies: the central role of cilia in a spectrum of pediatric disorders;Ferkol;J. Pediatr.,2012

4. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome;Leigh;Genet. Med.,2009

5. A human syndrome caused by immotile cilia;Afzelius;Science,1976

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