American College of Medical Genetics and Genomics Visit Us At Booth #809

April 10-13, 2018 - Charlotte, North Carolina


Research

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Scientific Posters

Poster # 121

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

Charles Yi, Marcy Richardson, Tina Pesaran, Vickie Hsuan, Adam Chamberlin, Lucia Guidugli, J. Parvin, Brigette Tippin Davis, Rachid Karam.  Integrating Functional and Structural Analyses Improves the Assessment of BRCA1 Missense Variants of Unknown Significance.

Poster # 673

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

Samin Sajan, Deepali Shinde, Zöe Powis, Jaya Ganesh, Maria I Scarano, Jennifer Stone, Susan Winter, Sha Tang. Biallelic gene disrupting variants in PKDCC cause a skeletal disorder characterized by rhizomelic shortening of extremities and distinctive facial features.

Poster # 727

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

Samin Sajan, Deepali Shinde, Zöe Powis, Dima El-Khechen, Wendy Chung, Sha Tang. Biallelic, and not monoallelic, loss of function variants in TRIM63 most likely cause cardiomyopathy.

Poster # 621

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

Elaine C. Weltmer, Amal Yussuf, Heather Newman, Jing Wang. Genes with therapeutic associations responsible for majority of epilepsy mutations and minority of epilepsy VUS.

Poster # 111

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

Carla Mason, Kelly Fulk, Beth Souders, Monalyn Umali-Salvador, Melissa Truelson, Brittany Dougall, Daniel Chen, Swati Shah, Chia-Ling Gau. Isolated Loss of PMS2 Expression in Colorectal and Endometrial Tumors Explained with Paired Tumor and Germline Testing.

Poster # 399

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

Margo Sheck, Samin Sajan, Sha Tang, Lakshmi Mehta. Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation.

Poster # 137

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

Blair R. Conner, Rachid Karam. RNA-based Approach Identifies Pathogenic Tandem Duplications in Hereditary Cancer Genes.

Poster # 407

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

Patrick Reineke, Stephany Tandy-Connor, Pia Summerour, Camerun Washington, Holly LaDuca. The impact of high and moderate penetrance breast cancer gene alterations on familial cascade testing in multi-gene panel positive probands.

Poster # 613

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

Kelly Farwell Hagman, Zöe Powis, Kendra Webb, Erica Smith, Wendy Alcaraz, Sha Tang, Kelly Radtke. Variable Rates of Reclassification Based on Clinical Indication among Patients Referred for Diagnostic Exome Sequencing.

Poster # 108

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

Carolyn Horton, Lily Hoang, Ashley Deckman, Holly LaDuca. BRCA1/2 testing criteria offer high clinical sensitivity for ATM, PALB2 and CHEK2 carriers in a multigene panel cohort.

Poster # 168

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

Zöe Powis, Kirsten Blanco, Kelly Farwell Hagman, Elaine C. Weltmer, Amanda Bergner, Jing Wang, Sha Tang. Clinical Diagnostic Exome Sequencing in Dystonia: the Challenges of Genetic Testing for Complex Conditions.

Poster # 136

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

Marcy Richardson, Hansook Chong, Blair R. Conner, Wenbo Mu, Tina Pesaran, Vickie Hsuan, Sara Willett, Stephanie Lam, Min-Sun Park, Lisa Tsai, Aaron Elliott, Phillip Gray, Rachid Karam. DNA Breakpoint Assay Reveals a Majority of Gross Duplications Occur in Tandem Reducing VUS Classifications in Breast Cancer Predisposition Genes.

Poster # 604

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

Zöe Powis, Kirsten Blanco, Kelly Farwell Hagman, Elaine C. Weltmer, Amanda Bergner, Jing Wang, Sha Tang. Genetic Testing for Epilepsy in Adults.

Poster # 408

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

Layla Shahmirzadi Mowlavi, Sebastien Marcq, Stephany Tandy-Connor, Kelly Farwell Hagman, Melissa Para, Brigette Tippin Davis. Personalized genomic testing (PGT) reporting preferences among over 2,500 individuals and healthcare providers (HCPs): Healthy individuals deem medical risk factors as the most important reason to pursue genetic testing.

Poster # 634

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

Meghan Towne, Brian Schoenfeld, Kirsten Blanco, Sha Tang. Proband-only Diagnostic Exome Sequencing: Trends in Diagnostic Yield at One Commercial Company.

Poster # 620

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

Jing Wang, Kirsten Blanco, Heather Newman, Zöe Powis, Sha Tang, Elaine C. Weltmer. What you can get and what would be missed: a side by side comparison of panels vs exome testing for Neurodevelopmental disorders.

Oral Presentations

Session # 12

Wednesday, April 11, 2018 5:15 - 5:30pm

Beth Souders, Monalyn Umali Salvador, Holly LaDuca, Patrick Reineke. An Inside Look at Mosaic Findings in Cancer Susceptibility Genes During One Year at a Clinical Diagnostic Laboratory

Session # 14

Thursday, April 12, 2018 9:15 - 9:30am

Erica Smith, Kelly Radtke, Kirsten Blanco, Samin Sajan, Jesse Hunter, Wendy Alcaraz, Kelly D. F. Hagman, Sha Tang. Multiple Findings in Diagnostic Exome Sequencing: Separate or Intertwined Diagnoses?

Session # 4

Friday, April 13, 2018 4:45 - 5:00pm

Taosheng Huang, Deepali N. Shinde, Adam Chamberlin, Zöe Powis, Katherine Helbig, Sha Tang. Biallelic Mutations in the Ferredoxin Reductase Gene Cause Novel Mitochondriopathy with Optic Atrophy

Session # 6422

Friday, April 11, 2008 3:00 - 3:20pm

Elaine Weltmer. Defining Value-based Practices for Clinical Laboratories: Quality, Flexibility, and Collaboration

Session # 6618

Friday, April 13, 2018 4:00 - 5:30pm

Brigette Tippin Davis. Sanger Confirmation of NGS Data

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