KIAA0586is Mutated in Joubert Syndrome-Reference-Cited by-同舟云学术

KIAA0586is Mutated in Joubert Syndrome

Published:2015-07-02 Issue:9 Volume:36 Page:831-835
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bachmann-Gagescu Ruxandra¹²,Phelps Ian G.³,Dempsey Jennifer C.³,Sharma Vivek A.³,Ishak Gisele E.⁴,Boyle Evan A.⁵⁶,Wilson Meredith⁷,Marques Lourenço Charles⁸,Arslan Mutluay⁹,Shendure Jay⁵,Doherty Dan³,

Affiliation:

1. Institute of Molecular Life Sciences; University of Zurich; Zurich Switzerland

2. Institute of Medical Genetics, University of Zurich; Zurich Switzerland

3. Department of Pediatrics; University of Washington; Seattle Washington

4. Department of Radiology; Seattle Children's Hospital, University of Washington; Seattle Washington

5. Department of Genome Sciences; University of Washington; Seattle Washington

6. Department of Genetics; Stanford University; Stanford Washington

7. Department of Clinical Genetics; Children's Hospital at Westmead; Sydney NSW Australia

8. Department of Neurosciences and Behavior Neurosciences; School of Medicine of Ribeirão Preto, University of São Paulo; São Paulo Brazil

9. Gulhane Military Medical School; Division of Child Neurology; Ankara Turkey

Funder

National Institute of Neurological Disorders and Stroke

National Human Genome Research Institute

National Institute of Child Health and Human Development

Swiss NSF

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

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2. The ciliopathies: an emerging class of human genetic disorders;Badano;Annu Rev Genom Human Genet,2006

3. Generation of mice with functional inactivation of talpid3, a gene first identified in chicken;Bangs;Development,2011

4. Targeted mutation of the talpid3 gene in zebrafish reveals its conserved requirement for ciliogenesis and Hedgehog signalling across the vertebrates;Ben;Development,2011

5. MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing;Boyle;Bioinformatics,2014

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