Thursday March 23 Poster Session 10:00 AM – 12:00 PM (7 Posters) Oral Presentations 9:15 AM – 5:45 PM
Session P367 Wrestling the Giant: Experience with TTN Testing for Cardiomyopathies American College of Medical Genetics Abstract Jill Dolinsky, Tami Johnston, Stephanie Gutierrez, Catherine Potente, Brigette Tippin Davis, Christian Antolik, Lily Hoang, Brittany Dougall, Barbara Boggs
Session P653 Exome Sequencing Identifies New Disease Phenotypes in Characterized Genes. Poster Abstract Kelly Hagman, MS, CGC, LGC, Kelly Radtke, Erica Smith, Sha Tang, Mari Rossi, Wendy Alcaraz, Deepali Shinde, Zöe Powis, Dima El-Khechen, Katherine Helbig, Kendra Webb, Cameron Mroske, Samin Sajan, Jesse Hunter
Session P345 Expansion and further delineation of the phenotype of SETD5 Poster Abstract Julie Cohen, Sha Tang, Kelly Hagman, MS, CGC, LGC, Zöe Powis, Kirsty McWalter, Ali Fatemi, Karen David, James Reynolds, LaDonna Immken, Honey Nagakura, Christopher Cunniff, Katelyn Payne, Tina Barbaro-Dieber, Karen Gripp, Lara Baker, Tara Stamper, Kyrieckos Aleck, Elizabeth Jordan, MMSc, CGC, Joseph Hersh, Jennifer Burton, Ingrid Wentsensen, Maria Guillen Sacoto, Rebecca Willaert, Megan Cho, Robert Huether
Session P627 The Value of Novel Candidate Gene Analysis in Individuals with Epilepsy undergoing Exome Sequencing Poster Abstract Kirsten Blanco, Deepali Shinde, Erica Smith, Amanda Bergner, Sha Tang, Zöe Powis, Kelly Farwell, Jing Wang, Katherine Helbig
Session P690 Two Approaches to Reclassifying Results from Previously Reported Diagnostic Exome Sequencing Poster Abstract Kelly Radtke, Erica Smith, Natalia Gutierrez, Kelly Hagman, MS, CGC, LGC, Sha Tang, Katherine Helbig, Kendra Webb
Session P413 Mosaic Genome-Wide Paternal Uniparental Disomy in an Individual without Features of Beckwith-Wiedemann Syndrome. Poster Abstract Kory Jasperson, Elizabeth Spiteri, Anne M. Bandholz, M. Umali, C. Scaife, A. Gammon
Session P227 False Positive Results Reported by Direct-To-Consumer Genetic Tests Highlight the Importance of Clinical Confirmation Testing for Appropriate Patient Care Poster Abstract Stephany Tandy-Connor,, Jenna Guiltinan,, Patrick Reineke, Stephanie Gutierrez, Holly Laduca, Brigette Tippin Davis, Kate Krempely
Session P546 Characteristics of Genetic Counselors in Industry-Based Roles: Considerations for Ongoing Workforce Discussions Poster Abstract Amanda Bergner, Deepti Babu
Session P228 Know FH: Mutation Spectrum and Utilization of Cascade Testing for Familial Hypercholesterolemia. Poster Abstract Catherine Potente, Tami Johnston, Jill Dolinsky, Brigette Tippin Davis, Brianna Volz, Andy Castro, Lily Hoang, Taylor Cain, Barbara Boggs
Session P164 A “Minor” Problem: Hereditary Cancer Multi-Gene Panel Testing for Individuals <18. Poster Abstract Sara Wienke, Emily Dalton, Amal Yussuf, Holly Laduca
Knocking Out a Titan: Assessing the Effect of Truncating TTN Alterations in a Large Clinical Cohort. Jesse Hunter
Session 2459 Genetic Testing in the Epilepsies: Testing Options, Diagnostic Yield, and Unique Challenges in Variant Interpretation. Abstract Amanda Bergner