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Cassa CA, Akle S, Jordan DM, et al. When ". Cold Spring Harb Mol Case Stud. 2017;3(3):a001099doi: 10.1101/mcs.a001099.
Cassa, C. A., Akle, S., Jordan, D. M., & Rosenfeld, J. A. (2017). When ". Cold Spring Harbor molecular case studies, 3(3), a001099. https://doi.org/10.1101/mcs.a001099
Cassa, Christopher A, et al. "When "." Cold Spring Harbor molecular case studies vol. 3,3 (2017): a001099. doi: https://doi.org/10.1101/mcs.a001099
Cassa CA, Akle S, Jordan DM, Rosenfeld JA. When ". Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001099. doi: 10.1101/mcs.a001099. PMID: 28487880; PMCID: PMC5411689.
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Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001099. doi: 10.1101/mcs.a001099.

When ".

Cold Spring Harbor molecular case studies

Christopher A Cassa, Sebastian Akle, Daniel M Jordan, Jill A Rosenfeld

Affiliations

  1. Brigham and Women's Hospital, Division of Genetics, Boston, Massachusetts 02115, USA.
  2. Harvard Medical School, Department of Medicine, Boston, Massachusetts 02115, USA.
  3. Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, Massachusetts 02138, USA.
  4. Department of Genetic and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
  5. Baylor Genetics, Houston, Texas 77030, USA.

PMID: 28487880 PMCID: PMC5411689 DOI: 10.1101/mcs.a001099

Abstract

The expanding use of genomic sequencing promises to improve clinical diagnostics and to drive the discovery of new disease genes. Candidate genes are increasingly being identified through recurrent cases (e.g., two or more independent cases ["

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