ACMG 2018

Session

P137

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

Abstract

Poster

Blair R. Conner, Rachid Karam, PhD

Session

P613

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

Abstract

Poster

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

Session

P111

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

Abstract

Poster

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

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

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

Session

P727

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

Abstract

Poster

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

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

Session

P399

Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation

Abstract

Lakshmi Mehta, Margo Sheck, Samin Sajan, Sha Tang

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

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

Session

P108

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

Abstract

Poster

Ashley Deckman, Carrie Horton, Holly Laduca, Lily Hoang

Session

P168

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

Abstract

Poster

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

Session

P604

Genetic Testing for Epilepsy in Adults

Abstract

Poster

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

Session

P136

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

Abstract

Poster

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

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

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

Session

P634

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

Abstract

Poster

Brian Schoenfeld, Kirsten Blanco, Meghan Towne, 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

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