American Society of Human Genetics annual meeting
Poster # tbd
Tuesday, October 6, 2015 12:00 - 12:00pm Abstract Poster
J Zhao, S Tang, D Schuessler, N Dosa, RR Lebel. CASK mutation identified by whole exome sequencing in a patient that expands the clinical spectrum for MICPCH syndrome.
Poster # tbd
Tuesday, October 6, 2015 12:00 - 12:00pm Abstract
J. Amos, S. Tang, K. Helbig, W. Alcaraz, R.R. Lebel. A patient with Beaulieu-Boycott-Innes syndrome, illustrating the utility of whole exome sequencing.
Poster # tbd
Tuesday, October 6, 2015 12:00 - 12:00pm Abstract Poster
Steven Harrison, Jill S. Dolinsky, Lisa Vincent, Amy Knight Johnson, Elizabeth Chao, Danielle Azzariti, Heidi Rehm. Clinical laboratories collaborate to resolve variant interpretation differences in ClinVar.
Poster # tbd
Tuesday, October 6, 2015 12:00 - 12:00pm Abstract Poster
K. D. Farwell Hagman, S. Li, L. Shahmirzadi, D. El-Khechen, Z. Powis, C. Gund, K. Burk, S. Tang. Diagnostic Exome Sequencing (DES) provides a diagnosis for 23% of adult patients.
Poster # tbd
Tuesday, October 6, 2015 12:00 - 12:00pm Abstract Poster
Marilyn Tsang, Deepali N. Shinde, Wendy Alcaraz, Dima El-Khechen, Bhambhani Vikas, Nancy J. Mendelsohn, Beau Crabb. Diagnostic exome sequencing identifies alterations in the newly characterized gene, COQ4, expanding the phenotypic spectrum.
Poster # tbd
Tuesday, October 6, 2015 12:00 - 12:00pm Abstract Poster
Huma Q. Rana, Rebecca Gelman, Jennifer Thompson, Rachel McFarland, Holly LaDuca, Emily Dalton, Virginia Speare, Jill S. Dolinsky, Elizabeth Chao, Judy E. Garber. Single gene (SGT) vs. Multi-gene panel testing (MGPT) for TP53 germline mutations in Li Fraumeni syndrome (LFS).
Poster # tbd
Tuesday, October 6, 2015 12:00 - 12:00pm Abstract Poster
L. Panos, J. Thompson, V. Speare, J. Dolinsky, K. Panchani, H. LaDuca. Variant of Unknown Significance rates vary by ethnicity and genes analyzed.
Session # tbd
Tuesday, October 6, 2015 12:00 - 12:00pm Abstract
K.L. Helbig, U.B.S. Hedrich, A.C. Teichmann, J. Hentschel, D.N. Shinde, W.A. Alcaraz, S. Tang, C. Jungbluth, S.L. Dugan, R. Schüle, H. Lerche, J.R. Lemke. A recurrent mutation in KCNA2 in complicated autosomal dominant spastic paraplegia: An expansion of the channelopathy spectrum and a novel disease mechanism
Session # tbd
Tuesday, October 6, 2015 12:00 - 12:00pm Abstract
J.N. Weitzel, K.R. Blazer, H. LaDuca, B. Nehoray, T. Slavin, T. Pesaran, C. Rybak, I. Solomon, M. Neil-Swiller, E. Chao. Somatic TP53 mutations detected in germline testing: The importance of phenotypic correlation in cancer predisposition testing