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 Holly Laduca, Shuwei Li, Elizabeth Chao, Leslie Bucheit, Carla Mason, Rachel McFarland
Phenotype comparison between founder and non-founder CHEK2 mutation carriers Poster Holly Laduca, Shuwei Li, Elizabeth Chao, Tracey Leedom, Rachel McFarland
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, Megan Bunnell, Kelly D. Farwell, 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 Elizabeth Chao, Sha Tang, Kelly Farwell Hagman, Zöe Powis, Dima El-Khechen, Layla Shahmirzadi, Deepali N. Shinde
Germline mosaicism detection with family-centered exome sequencing: More common than previously recognized? Poster Sha Tang, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Dima El-Khechen
11p13 microdeletion involving partial deletion of ELP4 in a newborn patient without aniridia Poster Vruti Mehta, Anne M. Bandholz, Caroline Williams, Robert Pedersen, Melissa Pronold, Jianbo Song, Zöe Powis, Christina Alamillo, Chia-Ling Gau, PhD, DABMG
Novel in-frame deletion in GRIA3: A case report Poster Heather A. Newman, Amanda L. Bergner, Matthew R.G. Taylor, Jean A. Jirikowic
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