National Society of Genetic Counselors annual conference
Poster # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm Poster
Anne M. Bandholz, Caroline Williams, Robert Pedersen, Vruti Mehta, Melissa Pronold, Jianbo Song, Zöe Powis, Christina Alamillo, Chia-Ling Gau. 11p13 microdeletion involving partial deletion of ELP4 in a newborn patient without aniridia.
Poster # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm Abstract Poster
Leslie Bucheit, Carla Mason, Holly LaDuca, Rachel McFarland, Shuwei Li, Elizabeth Chao. Characteristics of Li-Fraumeni Syndrome in a CHEK2 multi-gene panel cohort.
Poster # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm Abstract
Amanda Bergner, Jennifer Smart. Communication strategies utilized by people with NF2 and hearing loss.
Poster # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm Poster
Megan Bunnell, Kelly D. Farwell, Brigette Tippin Davis, Zöe Powis. 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 # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm Poster
Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Dima El-Khechen, Sha Tang. Germline mosaicism detection with family-centered exome sequencing: More common than previously recognized?.
Poster # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm Abstract Poster
Heather A. Newman, Amanda L. Bergner, Matthew R.G. Taylor, Jean A. Jirikowic. Novel in-frame deletion in GRIA3: A case report.
Poster # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm Poster
Tracey Leedom, Holly LaDuca, Rachel McFarland, Shuwei Li, Elizabeth Chao. Phenotype comparison between founder and non-founder CHEK2 mutation carriers.
Poster # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm Poster
Kelly Farwell Hagman, Zöe Powis, Dima El-Khechen, Layla Shahmirzadi, Deepali N. Shinde, Elizabeth Chao, Sha Tang. 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.
Session # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm 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. Diagnostic exome sequencing as the standard of care
Session # tbd
Wednesday, October 21, 2015 12:00 - 12:00pm Abstract
Christina Palmer, Deepti Babu, Craig Umscheid, Ravi Sharaf, Gillian Hooker. Practice guidelines 2.0: Developing high-quality, clinically relevant practice guidelines