Exome Sequencing Can Improve Diagnosis and Alter Patient Management-Reference-Cited by-同舟云学术

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Published:2012-06-13 Issue:138 Volume:4 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Dixon-Salazar Tracy J.¹,Silhavy Jennifer L.¹,Udpa Nitin²,Schroth Jana¹,Bielas Stephanie¹,Schaffer Ashleigh E.¹,Olvera Jesus¹,Bafna Vineet²,Zaki Maha S.³,Abdel-Salam Ghada H.³,Mansour Lobna A.⁴,Selim Laila⁴,Abdel-Hadi Sawsan⁴,Marzouki Naima⁵,Ben-Omran Tawfeg⁶,Al-Saana Nouriya A.⁷,Sonmez F. Müjgan⁸,Celep Figen⁹,Azam Matloob¹⁰,Hill Kiley J.¹,Collazo Adrienne¹,Fenstermaker Ali G.¹,Novarino Gaia¹,Akizu Naiara¹,Garimella Kiran V.¹¹,Sougnez Carrie¹¹,Russ Carsten¹¹,Gabriel Stacey B.¹¹,Gleeson Joseph G.¹

Affiliation:

1. Howard Hughes Medical Institute, Institute for Genomic Medicine, Rady Children’s Hospital, University of California, San Diego, San Diego, CA 92093, USA.

2. Department of Computer Sciences, School of Engineering, University of California, San Diego, La Jolla, CA 92093, USA.

3. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.

4. Cairo University Children’s Hospital, Cairo 406, Egypt.

5. Laboratoire Génétique Moléculaire, El Razi University Hospital, Marrakech 2360, Morocco.

6. Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha 3050, Qatar.

7. Department of Pediatrics, Dhahran Health Center, Saudi Aramco Corporation, Dhahran 31311, KSA.

8. Child Neurology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey.

9. Medical Biology Department, Medical School of Karadeniz Technical University, Trabzon 61080, Turkey.

10. Department of Paediatrics and Child Neurology, Wah Medical College, Wah Cantt, Pakistan.

11. The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.

Abstract

Exome sequencing of 118 patients with neurodevelopmental disorders shows that this technique is useful for identifying new pathogenic mutations and for correcting diagnosis in ~10% of cases.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference45 articles.

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