ASHG 2014

Novel mutation in CLTC associated with anomalous development

Poster

C. Mroske, J. DeMari, J. Nimeh, R. Lebel, R. Miller, S. Tang

Mutations in STK11 identified exclusively in individuals with clinical histories suggestive of Peutz-Jeghers syndrome

Abstract

Poster

C. Horton, E. Chao, J.S. Dolinsky, K. McGoldrick, M. Umali, S.B. Keiles, S. Li, T.F. Pesaran

Further defining the polyposis phenotype associated with PTEN mutations

Poster

Elaine Chen Weltmer, Elizabeth Chao, Holly Laduca, Laura Panos, Rachel McFarland

Majority of PTEN mutations identified on multi-gene panel tests are in non-classic patients: Expanding clinical phenotype or incomplete clinical history?

Poster

Abstract

Elaine Chen Weltmer, Elizabeth Chao, Holly Laduca, Laura Panos, Rachel McFarland

Diagnostic Exome Sequencing provides diagnoses among patients with abnormal brain MRI findings

Poster

Abstract

Alamillo C, Baxter RM, Chao EC, El-Khechen D, Farwell Gonzalez KD, Gandomi SK, Mroske C, Powis Z, Radke K, Shahmirzadi L, Shinde D, Tang S, Tippin Davis B

Diagnostic exome sequencing as the foundation of building pharmacogenomics-based therapeutic models for the treatment of ion channel epilepsy

Abstract

Baxter RM, Farwell Gonzalez K, Gandomi SK, Shahmirzadi L, Tang S, Tippin Davis B, Waller K

Clinical exome sequencing identifies a novel gene, LINS, associated with intellectual disability, failure to thrive, seizures, dysmorphology, and language regression

Poster

Abstract

Emily Rosebrough, Ira Lu, Kelly Gonzalez, Layla Shahmirzadi, Omar Abdul-Rahman, Ruth Baxter, Sha Tang

Diagnostic exome sequencing establishes molecular diagnoses among patients with gastrointestinal disease

Poster

Alamillo C, Baxter R, Chao EC, El-Khechen D, Farwell K, Gandomi SK, Mroske C, Powis Z, Radtke K, Shahmirzadi L, Shinde D, Tang S, Tippin B

Enhanced detection of large indels in diagnostic exome sequencing

Poster

Abstract

Cameron Mroske, David J. Salvador, Deepali N. Shinde, Dima El-Khechen, Hsiao-Mei Lu, Kelly D. Farwell Gonzalez, Layla Shahmirzadi, Sha Tang, Zoe Powis