Research ArticleGenomics

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

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Science Translational Medicine  13 Jun 2012:
Vol. 4, Issue 138, pp. 138ra78
DOI: 10.1126/scitranslmed.3003544

Article Information

vol. 4 no. 138 138ra78

PubMed: 
Print ISSN: 
Online ISSN: 
History: 
  • Received for publication December 1, 2011
  • Accepted for publication May 25, 2012
  • .

Author Information

  1. Tracy J. Dixon-Salazar1,
  2. Jennifer L. Silhavy1,
  3. Nitin Udpa2,
  4. Jana Schroth1,
  5. Stephanie Bielas1,
  6. Ashleigh E. Schaffer1,
  7. Jesus Olvera1,
  8. Vineet Bafna2,
  9. Maha S. Zaki3,
  10. Ghada H. Abdel-Salam3,
  11. Lobna A. Mansour4,
  12. Laila Selim4,
  13. Sawsan Abdel-Hadi4,
  14. Naima Marzouki5,
  15. Tawfeg Ben-Omran6,
  16. Nouriya A. Al-Saana7,
  17. F. Müjgan Sonmez8,
  18. Figen Celep9,
  19. Matloob Azam10,
  20. Kiley J. Hill1,
  21. Adrienne Collazo1,
  22. Ali G. Fenstermaker1,
  23. Gaia Novarino1,
  24. Naiara Akizu1,
  25. Kiran V. Garimella11,
  26. Carrie Sougnez11,
  27. Carsten Russ11,
  28. Stacey B. Gabriel11,* and
  29. Joseph G. Gleeson1,*,
  1. 1Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children’s Hospital, University of California, San Diego, San Diego, CA 92093, USA.
  2. 2Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, CA 92093, USA.
  3. 3Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.
  4. 4Cairo University Children’s Hospital, Cairo 406, Egypt.
  5. 5Laboratoire Génétique Moléculaire, El Razi University Hospital, Marrakech 2360, Morocco.
  6. 6Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar.
  7. 7Department of Pediatrics, Dhahran Health Center, Saudi Aramco Corporation, Dhahran 31311, KSA.
  8. 8Child Neurology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey.
  9. 9Medical Biology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey.
  10. 10Department of Paediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan.
  11. 11The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
  1. To whom correspondence should be addressed. E-mail: jogleeson{at}ucsd.edu
  • * These authors contributed equally to this work.

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