Research Award Details

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Improving Variant Interpretation of Aortic Aneurysm Disease Genes

Grant Recipient: Matthew Dobbs, MD

Washington Univeristy, St. Louis, MO
Presentations & Publications:


  • Gurnett CA, Quiggle A, McCall K, Yuan W, Antunes L, Haller G, Dobbs M. Deep mutational scanning to quantify functional effects of rare variants in scoliosis, 2019 International Consortium for Spinal Genetics, Development, and Disease, Stockholm, Sep 6, 2019.

  • Center for Clinical Pharmacology Seminar, “High throughput functional testing of human disease gene variants,” St Louis College of Pharmacy, May 2, 2019.

  • Pediatric Grand Rounds, “Scoliosis, syringomyelia, chiari I malformation, and manganese,” Washington University, Feb 22, 2019.
  • Genetics Department Seminar, “Scoliosis, syringomyelia, chiari I malformation, and manganese,” Emory University, Jan 7, 2019.
  • Department of Neurosurgery Grand Rounds, “Scoliosis, syringomyelia, chiari I malformation and manganese,” Washington University in St Louis, Nov 11, 2018.


Two publications are in process at this time.

Further Funding:

Several grants are pending at this time.

Additional Information: