Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability-Reference-Cited by-同舟云学术

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Published:2015-09-30 Issue:12 Volume:36 Page:1197-1204
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Grozeva Detelina¹,Carss Keren²³,Spasic‐Boskovic Olivera¹⁴,Tejada Maria‐Isabel⁵⁶,Gecz Jozef⁷,Shaw Marie⁷,Corbett Mark⁷,Haan Eric⁷,Thompson Elizabeth⁷,Friend Kathryn⁸,Hussain Zaamin¹,Hackett Anna⁹,Field Michael⁹,Renieri Alessandra¹⁰¹¹,Stevenson Roger¹²,Schwartz Charles¹²,Floyd James A.B.²¹³,Bentham Jamie¹⁴,Cosgrove Catherine¹⁴,Keavney Bernard¹⁵,Bhattacharya Shoumo¹⁴,Hurles Matthew²,Raymond F. Lucy¹, , ,

Affiliation:

1. Department of Medical Genetics Cambridge Institute for Medical Research University of Cambridge Cambridge CB2 0XY United Kingdom

2. The Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton Cambridge CB10 1SA United Kingdom

3. Department of Haematology University of Cambridge Cambridge CB2 0PT United Kingdom

4. East Anglian Medical Genetics Service Addenbrooke's Hospital Cambridge CB2 0QQ United Kingdom

5. Molecular Genetics Laboratory Genetics Service Cruces University Hospital BioCruces Health Research Institute Barakaldo‐Bizkaia 48903 Spain

6. Centre for Biomedical Research on Rare Diseases (CIBERER) Madrid 28029 Spain

7. Department of Paediatrics and Robinson Research Institute The University of Adelaide Adelaide South Australia 5006 Australia

8. SA Pathology Women's and Children's Hospital Adelaide South Australia 5006 Australia

9. Genetics of Learning Disability Service Hunter Genetics Waratah New South Wales 2298 Australia

10. Medical Genetics University of Siena Siena 53100 Italy

11. Genetica Medica Azienda Ospedaliera Universitaria Senese Siena 53100 Italy

12. Greenwood Genetic Center Greenwood, South Carolina 29646

13. The Genome Centre John Vane Science Centre Queen Mary University of London Charterhouse Square London EC1M 6BQ United Kingdom

14. Department of Cardiovascular Medicine University of Oxford Wellcome Trust Centre for Human Genetics Oxford OX3 7BN United Kingdom

15. Cardiovascular Research Group Institute of Cardiovascular Sciences University of Manchester Manchester M13 9NT United Kingdom

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22901

Reference45 articles.

1. A method and server for predicting damaging missense mutations

2. Integrating common and rare genetic variation in diverse human populations

3. Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms

4. Refining analyses of copy number variation identifies specific genes associated with developmental delay

5. A copy number variation morbidity map of developmental delay

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