GGC Faculty Presenting at ACMG Meeting

GGC will be presenting clinical cases, educational experiences, and research findings at the 2018 American College of Medical Genetics and Genomics Annual Meeting, April 10-14 in Charlotte, NC.

Download a pdf of the GGC schedule.

Presentations

Wednesday April 11, 2018

  • 8:00-9:30, Early Diagnosis Results: Simply Test for MPS™ Program (Meeting Room 203AB), Tim Wood (Sponsored by BioMarin).

Thursday, April 12, 2018

  • 11:40-12:10, Flexible Del/Dup Array Lowers False Positives and Strengthens Analysis: Implementation and Case Review (Exhibit Theater 1), Alka Chaubey (Sponsered By Thermo Fisher).

Posters

Thursday, April 12, 2018
10:00am-11:30am

  • Trisomy 21: A Thirty Year History of the Greenwood Genetic Center (Poster 179), Barbara DuPont.
  • Identification of Whole Genome Homozygosity (WG-HMZ) by Microarray Analysis on a Metastatic Tumor of Ovarian Cancer (Poster 207), Alka Chaubey.
  • Comprehensive Testing for Spinal Muscular Atrophy-The Value of SMN1 Gene-Specific Sequencing (Poster 227), Eric G. Bend, Andrew B. Lay, Catherine J. Spellicy, Allison Bellomo, Sara S. Cathey, David B. Everman, Jennifer A Lee, Kathryn J. Swoboda.
  • Bi-allelic Sequence Variants in PTPN23 Cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Structural Brain Abnormalities, and Optic Atrophy (Poster 319) Renee Bend, Michael Lyons, Xuemei Shi, Jennifer Lee, Lior Cohen, Melissa Carter, John Overton, Carlos Ferreira, Claudia Gonzaga-Jauregui.
  • Identical de novo 19p13.3 Deletion and 19q13.42q13.43 Duplication in Two Brothers with Severe Developmental Delay, Seizures, and Neurobehavioral Problems (Poster 411) Jennifer Gass, Frank Bartel, Alka Chaubey, R. Curtis Rogers, Barbara DuPont
  • A Novel Case of Mosiac Beckwith-Wiedemann Syndrome with a Large Deletion Including the Imprinting Center Regions ICR1 and ICR2, but Normal Methylation. (Poster 451) Fatima Abidi, Tim Fee, Eric Bend, Alka Chaubey, Sara Cathey, Jennifer Lee, Julie Jones.
  • The QUICK Analysis: Quickly Uncovering Important Clinical Knowledge in the Diagnostic Setting (Poster 625), Julie R. Jones, Renee C. Bend, Raymond J. Louie, Vahid Bahrambeigi, Eric G. Bend, Stephen McGee, Katharine Kubiak, Jennifer A. Lee, Michael J Friez.

Friday, April 13, 2018
10:30am-12:00pm

  • Metabolomic Profiling of a Cerebrotendinous Xanthomatosis (CTX) Patient Before and After Treatment (Poster 92), Taraka Donti, Monte A. De Monte, Penelope Bonnen.
  • Genetic Outreach Education: Seven years old and expanding the sphere of impact (Poster 500), Leta Tribble.
  • Improving Access to Genetic Care in South Carolina Through a Telehealth Initiative at the Greenwood Genetic Center (Poster 578), Michael Lyons, Katie Clarkson, Shannon Bell, Katy Drazba, Jennifer Lynch, Charles Schwartz.

For more information about GGC services, visit Booth 1415!

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