American College of Medical Genetics and Genomics (ACMG)

March 22-24, 2017 - Phoenix, Arizona 


Research

Scientific Posters

Poster # 367

Thursday, March 23, 2017 10:00 - 11:30am

Jill Dolinsky, Christian Anatolik, Tami Johnston, Lily Hoang, Brittany Dougall, Stephanie Gutierrez, Catherine Potente, Brigette Tippin Davis, Barbara Boggs. Wrestling the Giant: Experience with TTN Testing for Cardiomyopathies American College of Medical Genetics .

Poster # 653

Thursday, March 23, 2017 10:00 - 12:00pm

Kelly Hagman, Kelly Radtke, Erica Smith, Sha Tang, Zöe Powis, Dima El-Khechen, Katherine Helbig, Kendra Webb, Cameron Mroske, Mari Rossi, Wendy Alcaraz, Samin Sajan, Jesse Hunter, Deepali Shinde. Exome Sequencing Identifies New Disease Phenotypes in Characterized Genes..

Poster # 345

Thursday, March 23, 2017 10:00 - 12:00pm

Zöe Powis, Kirsty McWalter, Julie Cohen, 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, Joseph Hersh, Jennifer Burton, Ingrid Wentsensen, Maria Guillen Sacoto, Rebecca Willaert, Megan Cho, Robert Huether, Sha Tang, Kelly Hagman. Expansion and further delineation of the phenotype of SETD5.

Poster # 690

Thursday, March 23, 2017 10:00 - 12:00pm

Kelly Radtke, Erica Smith, Katherine Helbig, Kendra Webb, Natalia Gutierrez, Kelly Hagman, Sha Tang. Two Approaches to Reclassifying Results from Previously Reported Diagnostic Exome Sequencing.

Poster # 413

Thursday, March 23, 2017 10:00 - 11:30am

Elizabeth Spiteri, Kory Jasperson, Anne M. Bandholz, M. Umali, C. Scaife, A. Gammon. Mosaic Genome-Wide Paternal Uniparental Disomy in an Individual without Features of Beckwith-Wiedemann Syndrome..

Poster # 227

Thursday, March 23, 2017 10:00 - 12:00pm

Stephany Tandy-Connor, Jenna Guiltinan, Kate Krempely, Patrick Reineke, Stephanie Gutierrez, Holly LaDuca, Brigette Tippin Davis. False Positive Results Reported by Direct-To-Consumer Genetic Tests Highlight the Importance of Clinical Confirmation Testing for Appropriate Patient Care.

Poster # 627

Thursday, March 23, 2017 10:00 - 12:00pm

Zöe Powis, Kirsten Blanco, Kelly Farwell, Deepali Shinde, Erica Smith, Amanda Bergner, Jing Wang, Sha Tang, Katherine Helbig. The Value of Novel Candidate Gene Analysis in Individuals with Epilepsy undergoing Exome Sequencing.

Poster # 228

Friday, March 24, 2017 10:30 - 12:58pm

Brianna Volz, Catherine Potente, Andy Castro, Lily Hoang, Taylor Cain, Tami Johnston, Barbara Boggs, Jill Dolinsky, Brigette Tippin Davis. Know FH: Mutation Spectrum and Utilization of Cascade Testing for Familial Hypercholesterolemia. .

Poster # 546

Friday, March 24, 2017 10:30 - 12:00pm

Amanda Bergner, Deepti Babu. Characteristics of Genetic Counselors in Industry-Based Roles: Considerations for Ongoing Workforce Discussions.

Poster # 164

Friday, March 24, 2017 10:30 - 12:00pm

Sara Wienke, Emily Dalton, Amal Yussuf, Holly LaDuca. A “Minor” Problem: Hereditary Cancer Multi-Gene Panel Testing for Individuals <18. .

Oral Presentations

Session # 2459

Thursday, March 23, 2017 4:15 - 5:45pm

Amanda Bergner. Genetic Testing in the Epilepsies: Testing Options, Diagnostic Yield, and Unique Challenges in Variant Interpretation.

Session # tbd

Thursday, March 23, 2017 9:15 - 9:30am

Jesse Hunter. Knocking Out a Titan: Assessing the Effect of Truncating TTN Alterations in a Large Clinical Cohort.

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