Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 (original) (raw)

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Acknowledgements

The authors thank all of the families who participated in this study. We also recognize A. Theisen (Signature Genomic Laboratories) for his editorial assistance. This work was partly funded by a grant from the US National Institutes of Health (NIH) (HD047280-02) to L.G.S. (Washington State University). We appreciate the support from SHARE's Childhood Disability Center, the Steven Spielberg Pediatric Research Center, the Cedars-Sinai Burns and Allen Research Institute, the Skeletal Dysplasias NIH/National Institute of Child Health and Human Development Program (grant HD22657-11) and the Medical Genetics NIH/National Institute of General Medical Sciences Training Program (grant GM08243).

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Authors and Affiliations

  1. Signature Genomic Laboratories, Spokane, 99202, Washington, USA
    Blake C Ballif, Bassem A Bejjani & Lisa G Shaffer
  2. Health Research and Education Center, Washington State University, Spokane, 99210, Washington, USA
    Sara A Hornor, Bassem A Bejjani & Lisa G Shaffer
  3. Children's Hospital of Pittsburgh, Pittsburgh, 15213, Pennsylvania, USA
    Elizabeth Jenkins & Suneeta Madan-Khetarpal
  4. Department of Pathology, University of Pittsburgh, Pittsburgh, 15260, Pennsylvania, USA
    Urvashi Surti
  5. Magee-Womens Hospital, Pittsburgh, 15213, Pennsylvania, USA
    Urvashi Surti
  6. Weisskopf Child Evaluation Center, Louisville, 40202, Kentucky, USA
    Kelly E Jackson, Alexander Asamoah, Pamela L Brock & Gordon C Gowans
  7. Cedars-Sinai Medical Center, Los Angeles, 90048, California, USA
    Robert L Conway & John M Graham Jr
  8. The Children's Hospital of Philadelphia, Philadelphia, 19104, Pennsylvania, USA
    Livija Medne, Elaine H Zackai & Tamim H Shaikh
  9. NimbleGen Systems, Madison, 53711, Wisconsin, USA
    Joel Geoghegan, Rebecca R Selzer & Peggy S Eis
  10. Sacred Heart Medical Center, Spokane, 99204, Washington, USA
    Bassem A Bejjani

Authors

  1. Blake C Ballif
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  2. Sara A Hornor
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  3. Elizabeth Jenkins
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  4. Suneeta Madan-Khetarpal
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  5. Urvashi Surti
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  6. Kelly E Jackson
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  7. Alexander Asamoah
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  8. Pamela L Brock
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  9. Gordon C Gowans
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  10. Robert L Conway
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  11. John M Graham Jr
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  12. Livija Medne
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  13. Elaine H Zackai
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  14. Tamim H Shaikh
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  15. Joel Geoghegan
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  16. Rebecca R Selzer
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  17. Peggy S Eis
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  18. Bassem A Bejjani
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  19. Lisa G Shaffer
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Corresponding author

Correspondence toLisa G Shaffer.

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Competing interests

L.G.S. and B.A.B. have ownership in, receive consulting fees from, and sit on the Members' Board of Signature Genomic Laboratories, LLC.

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Ballif, B., Hornor, S., Jenkins, E. et al. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.Nat Genet 39, 1071–1073 (2007). https://doi.org/10.1038/ng2107

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