ASHG 2014

Novel mutation in CLTC associated with anomalous development

Poster

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

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

Abstract

Poster

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

Further defining the polyposis phenotype associated with PTEN mutations

Poster

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

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

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

Poster

Abstract

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

Abstract

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

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

Poster

Abstract

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

Diagnostic exome sequencing establishes molecular diagnoses among patients with gastrointestinal disease

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

Enhanced detection of large indels in diagnostic exome sequencing

Poster

Abstract

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