Challenges of diagnostic exome sequencing in an inbred founder population-Reference-Cited by-同舟云学术

Challenges of diagnostic exome sequencing in an inbred founder population

Published:2013-04-22 Issue:2 Volume:1 Page:71-76
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Azmanov Dimitar N.¹,Chamova Teodora²,Tankard Rick³,Gelev Vladimir⁴,Bynevelt Michael⁵⁶,Florez Laura¹,Tzoneva Dochka⁷,Zlatareva Dora⁸,Guergueltcheva Velina²,Bahlo Melanie³⁹,Tournev Ivailo²¹⁰,Kalaydjieva Luba¹

Affiliation:

1. Laboratory for Molecular Genetics Centre for Medical Research/Western Australian Institute for Medical Research The University of Western Australia Perth WA Australia

2. Department of Neurology Medical University Sofia Bulgaria

3. Bioinformatics Division The Walter and Eliza Hall Institute Melbourne VIC Australia

4. Faculty of Chemistry and Pharmacy Sofia University Sofia Bulgaria

5. Department of Surgery School of Medicine The University of Western Australia Perth WA Australia

6. Neurological Intervention and Imaging Service (WA) Sir Charles Gairdner Hospital Perth WA Australia

7. Department of Anesthesiology and Intensive Care University Hospital “Alexandrovska” Sofia Bulgaria

8. Department of Diagnostic Imaging University Hospital “Alexandrovska” Sofia Bulgaria

9. Department of Mathematics and Statistics The University of Melbourne Melbourne VIC Australia

10. Department of Cognitive Science and Psychology New Bulgarian University Sofia Bulgaria

Funder

NHMRC

Medical and Health Research Infrastructure Fund

Western Australia

Western Australian Institute for Medical Research

Australian Research Council

Operational Infrastructure Support

Independent Research Institute Infrastructure Support Scheme

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.7

Reference23 articles.

1. A method and server for predicting damaging missense mutations

2. A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

3. Developmental disorders of the midbrain and hindbrain

4. The LDL receptor: how acid pulls the trigger

5. Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

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