American Society of Human Genetics annual meeting
Poster # tbd
Saturday, October 18, 2014 12:00 - 12:00pm Abstract Poster
Ira Lu, Layla Shahmirzadi, Ruth Baxter, Sha Tang, Kelly Gonzalez, Emily Rosebrough, Omar Abdul-Rahman. Clinical exome sequencing identifies a novel gene, LINS, associated with intellectual disability, failure to thrive, seizures, dysmorphology, and language regression.
Poster # tbd
Saturday, October 18, 2014 12:00 - 12:00pm Abstract Poster
Gandomi SK, Waller K, Farwell Gonzalez K, Shahmirzadi L, Baxter RM, Tippin-Davis B, Tang S. Diagnostic exome sequencing as the foundation of building pharmacogenomics-based therapeutic models for the treatment of ion channel epilepsy.
Poster # tbd
Saturday, October 18, 2014 12:00 - 12:00pm Poster
Shahmirzadi L, Farwell K, El-Khechen D, Powis Z, Alamillo C, Radtke K, Shinde D, Mroske C, Baxter R, Tippin B, Gandomi SK, Chao EC, Tang S. Diagnostic exome sequencing establishes molecular diagnoses among patients with gastrointestinal disease.
Poster # tbd
Saturday, October 18, 2014 12:00 - 12:00pm Abstract Poster
Farwell Gonzalez KD, Shahmirzadi L, El-Khechen D, Powis Z, Mroske C, Radke K, Shinde D, Gandomi SK, Alamillo C, Chao EC, Baxter RM, Tippin Davis B, Tang S. Diagnostic Exome Sequencing provides diagnoses among patients with abnormal brain MRI findings.
Poster # tbd
Saturday, October 18, 2014 12:00 - 12:00pm Abstract Poster
Deepali N. Shinde, Layla Shahmirzadi, Dima El-Khechen, Zoe Powis, Cameron Mroske, David J. Salvador, Hsiao-Mei Lu, Kelly D. Farwell Gonzalez, Sha Tang. Enhanced detection of large indels in diagnostic exome sequencing.
Poster # tbd
Saturday, October 18, 2014 12:00 - 12:00pm Poster
Laura Panos, Elaine Chen Weltmer, Holly LaDuca, Rachel McFarland, Elizabeth Chao. Further defining the polyposis phenotype associated with PTEN mutations.
Poster # tbd
Saturday, October 18, 2014 12:00 - 12:00pm Abstract Poster
Elaine Chen Weltmer, Laura Panos, Holly LaDuca, Rachel McFarland, Elizabeth Chao. Majority of PTEN mutations identified on multi-gene panel tests are in non-classic patients: Expanding clinical phenotype or incomplete clinical history?.
Poster # tbd
Saturday, October 18, 2014 12:00 - 12:00pm Abstract Poster
J.S. Dolinsky, S.B. Keiles, T.F. Pesaran, C. Horton, M. Umali, K. McGoldrick, S. Li, E. Chao. Mutations in STK11 identified exclusively in individuals with clinical histories suggestive of Peutz-Jeghers syndrome.
Poster # tbd
Saturday, October 18, 2014 12:00 - 12:00pm Poster
J. DeMari, R. Miller, S. Tang, C. Mroske, J. Nimeh, R. Lebel. Novel mutation in CLTC associated with anomalous development.