Whole-Genome Sequencing for Optimized Patient Management-Reference-Cited by-同舟云学术

Whole-Genome Sequencing for Optimized Patient Management

Published:2011-06-15 Issue:87 Volume:3 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Bainbridge Matthew N.¹²,Wiszniewski Wojciech³,Murdock David R.¹,Friedman Jennifer⁴⁵,Gonzaga-Jauregui Claudia³,Newsham Irene¹,Reid Jeffrey G.¹,Fink John K.⁶⁷,Morgan Margaret B.¹,Gingras Marie-Claude¹,Muzny Donna M.¹,Hoang Linh D.⁸,Yousaf Shahed⁸,Lupski James R.¹³⁹¹⁰,Gibbs Richard A.¹³

Affiliation:

1. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

2. Department of Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.

3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

4. Departments of Neurosciences and Pediatrics, University of California, San Diego, CA 92093, USA.

5. Rady Children’s Hospital, San Diego, CA 92123, USA.

6. Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.

7. Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MI 48105, USA.

8. Life Technologies, Carlsbad, CA 92008, USA.

9. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

10. Texas Children’s Hospital, Houston, TX 77030, USA.

Abstract

A disease mutation identified by whole-genome sequencing of twins with dystonia allowed optimization of treatment, resulting in clinical improvements.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference31 articles.

1. A map of human genome variation from population-scale sequencing

2. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

3. Clinical and Genetic Analysis of Progressive Dystonia With Diurnal Variation

4. Dopa‐responsive dystonia

5. The diagnosis of dystonia

Cited by 248 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Rol del ambiente en la genómica de enfermedades;Prometeica - Revista de Filosofía y Ciencias;2023-11-11

2. Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen;Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz;2023-10-13

3. Population Genome Programs across the Middle East and North Africa: Successes, Challenges, and Future Directions;Biomedicine Hub;2023-09-14

4. The genomic landscape of familial glioma;Science Advances;2023-04-28

5. Next-generation sequencing for gene panels, clinical exome, and whole-genome analysis;Human Reproductive and Prenatal Genetics;2023