ACMG 2018

Session

P137

RNA-based Approach Identifies Pathogenic Tandem Duplications in Hereditary Cancer Genes

Abstract

Poster

Rachid Karam, PhD, Blair R. Conner

Session

P613

Variable Rates of Reclassification Based on Clinical Indication among Patients Referred for Diagnostic Exome Sequencing

Abstract

Poster

Erica Smith, Wendy Alcaraz, Sha Tang, Kelly Radtke, Kelly Farwell Hagman, Zöe Powis, Kendra Webb

Session

P111

Isolated Loss of PMS2 Expression in Colorectal and Endometrial Tumors Explained with Paired Tumor and Germline Testing

Abstract

Poster

Kelly Fulk, Monalyn Umali Salvador, Daniel Chen, Carla Mason, Beth Souders, Melissa Truelson, Brittany Dougall, Swati Shah, Chia-Ling Gau, PhD, DABMG

Session

P407

The impact of high and moderate penetrance breast cancer gene alterations on familial cascade testing in multi-gene panel positive probands

Abstract

Poster

Patrick Reineke, Stephany Tandy-Connor,, Holly Laduca, Pia Summerour, Camerun Washington

Session

P727

Biallelic, and not monoallelic, loss of function variants in TRIM63 most likely cause cardiomyopathy

Abstract

Poster

Deepali Shinde, Sha Tang, Samin Sajan, Zöe Powis, Dima El-Khechen, Wendy Chung

Session

P673

Biallelic gene disrupting variants in PKDCC cause a skeletal disorder characterized by rhizomelic shortening of extremities and distinctive facial features

Abstract

Poster

Deepali Shinde, Sha Tang, Samin Sajan, Zöe Powis, Jaya Ganesh, Maria I Scarano, Jennifer Stone, Susan Winter

Session

P399

Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation

Abstract

Sha Tang, Margo Sheck, Samin Sajan, Lakshmi Mehta

Session

P621

Genes with therapeutic associations responsible for majority of epilepsy mutations and minority of epilepsy VUS

Abstract

Poster

Amal Yussuf, Elaine C. Weltmer, Heather Newman, Jing Wang

Session

P121

Integrating Functional and Structural Analyses Improves the Assessment of BRCA1 Missense Variants of Unknown Significance

Abstract

Poster

Marcy Richardson, Tina Pesaran, MA, MS, CGC, Adam Chamberlin, Brigette Tippin Davis, Rachid Karam, PhD, Charles Yi, Vickie Hsuan, Lucia Guidugli, J. Parvin

Session

P108

BRCA1/2 testing criteria offer high clinical sensitivity for ATM, PALB2 and CHEK2 carriers in a multigene panel cohort

Abstract

Poster

Carrie Horton, Holly Laduca, Lily Hoang, Ashley Deckman

Session

P168

Clinical Diagnostic Exome Sequencing in Dystonia: the Challenges of Genetic Testing for Complex Conditions

Abstract

Poster

Kirsten Blanco, Amanda Bergner, Sha Tang, Zöe Powis, Kelly Farwell Hagman, Elaine C. Weltmer, Jing Wang

Session

P604

Genetic Testing for Epilepsy in Adults

Abstract

Poster

Kirsten Blanco, Amanda Bergner, Sha Tang, Zöe Powis, Kelly Farwell Hagman, Elaine C. Weltmer, Jing Wang

Session

P136

DNA Breakpoint Assay Reveals a Majority of Gross Duplications Occur in Tandem Reducing VUS Classifications in Breast Cancer Predisposition Genes

Abstract

Poster

Marcy Richardson, Wenbo Mu, Tina Pesaran, MA, MS, CGC, Aaron Elliott, Phillip Gray, Rachid Karam, PhD, Hansook Chong, Blair R. Conner, Vickie Hsuan, Sara Willett, Stephanie Lam, Min-Sun Park, Lisa Tsai

Session

P408

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

Abstract

Poster

Layla Mowlavi, Sebastien Marcq, Stephany Tandy-Connor,, Brigette Tippin Davis, Kelly Farwell Hagman, Melissa Para

Session

P634

Proband-only Diagnostic Exome Sequencing: Trends in Diagnostic Yield at One Commercial Company

Abstract

Poster

Meghan Towne, Brian Schoenfeld, Kirsten Blanco, Sha Tang

Session

P620

What you can get and what would be missed: a side by side comparison of panels vs exome testing for Neurodevelopmental disorders

Abstract

Poster

Kirsten Blanco, Sha Tang, Jing Wang, Heather Newman, Zöe Powis, Elaine C. Weltmer