Wednesday October 21 Poster Session 12:00 AM – 12:00 PM (8 Posters) Oral Presentations 12:00 AM – 12:00 PM
Communication strategies utilized by people with NF2 and hearing loss Abstract Amanda Bergner, Jennifer Smart
Characteristics of Li-Fraumeni Syndrome in a CHEK2 multi-gene panel cohort Poster Abstract Carla Mason, Elizabeth Chao, Holly Laduca, Leslie Bucheit, Rachel McFarland, Shuwei Li
Phenotype comparison between founder and non-founder CHEK2 mutation carriers Poster Elizabeth Chao, Holly Laduca, Rachel McFarland, Shuwei Li, Tracey Leedom
Diagnostic exome sequencing with inheritance model-based analysis: Results from a cohort of 81 probands referred with cardiac indications as compared to the group of 500 unselected families with undiagnosed genetic conditions Poster Brigette Tippin Davis, Kelly D. Farwell, Megan Bunnell, Zöe Powis
The evaluation of the molecular basis of disease (EMBoDy) in clinical reporting: What genetic counselors need to know for counseling and return of novel genetic etiology results identified via diagnostic exome sequencing Poster Deepali N. Shinde, Dima El-Khechen, Elizabeth Chao, Kelly Farwell Hagman, Layla Shahmirzadi, Sha Tang, Zöe Powis
Germline mosaicism detection with family-centered exome sequencing: More common than previously recognized? Poster Dima El-Khechen, Kelly Farwell, Layla Shahmirzadi, Sha Tang, Zöe Powis
11p13 microdeletion involving partial deletion of ELP4 in a newborn patient without aniridia Poster Anne M. Bandholz, Caroline Williams, Chia-Ling Gau, PhD, DABMG, Christina Alamillo, Jianbo Song, Melissa Pronold, Robert Pedersen, Vruti Mehta, Zöe Powis
Novel in-frame deletion in GRIA3: A case report Poster Amanda L. Bergner, Heather A. Newman, Jean A. Jirikowic, Matthew R.G. Taylor
Practice guidelines 2.0: Developing high-quality, clinically relevant practice guidelines Abstract Christina Palmer, Deepti Babu, Craig Umscheid, Ravi Sharaf, Gillian Hooker
Diagnostic exome sequencing as the standard of care Abstract David Goldstein, Kelly Farwell Hagman, Holly LaDuca, Elizabeth Chao, Neal Z. Niu, Joshua Deignan, Cheryl Scacheri, Sha Tang, Emily Farrow, Julia Wynn, Julie Cohen, Layla Shahmirzadi, Kelly Ormond, Leslie Biesecker