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Original Article

Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

  1. H Carmichael1,
  2. Y Shen2,3,
  3. TT Nguyen4,5,
  4. JN Hirschhorn4,5,6,7,
  5. A Dauber4,6,*

Article first published online: 20 DEC 2012

DOI: 10.1111/cge.12064

Additional Information

How to Cite

Carmichael H, Shen Y, Nguyen TT, Hirschhorn JN, Dauber A. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.

Author Information

  1. 1

    Harvard Medical School, Boston, MA, USA

  2. 2

    Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA, USA

  3. 3

    Department of Pathology, Harvard Medical School, Boston, MA, USA

  4. 4

    Division of Endocrinology

  5. 5

    Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA, USA

  6. 6

    Program in Medical and Population Genetics, Broad Institute, Boston, MA, USA

  7. 7

    Department of Genetics, Harvard Medical School, Boston, MA, USA

* Corresponding author: Andrew Dauber, Division of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.
Tel.: +617-919-2413;
fax: +617-730-0856;
e-mail: andrew.dauber@childrens.harvard.edu

  1. The authors have no conflicts of interest to disclose.

Publication History

  1. Article first published online: 20 DEC 2012
  2. Accepted manuscript online: 21 NOV 2012 02:05AM EST
  3. Manuscript Revised: 15 NOV 2012
  4. Manuscript Accepted: 15 NOV 2012
  5. Manuscript Received: 26 JUL 2012

Funded by

  • Harvard Catalyst. Grant Number: UL1 RR 025758
  • NIH. Grant Number: 1K23HD073351
  • Genentech Center for Clinical Research in Endocrinology
  • March of Dimes. Grant Number: 6-FY09-507

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