American College of Medical Genetics and Genomics annual meeting
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Jill Dolinksy, Holly LaDuca, AJ Stuenkel, B. Weerasuriya, Jennifer Thompson, A. Mercier, E. Fassi, Elizabeth C. Chao. Beyond BRCA1/2: Expanding phenotypes for probands with CDH1, PTEN, STK11, and TP53 mutations.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Cameron Mroske, Jennifer Dickerson, Laurence Walsh, Yi Zheng, Sha Tang, Kelly D. Gonzalez. Diagnostic exome sequencing (DES) in a patient with syndromic intellectual disability identifies a novel gene, CDC42, which lies at the 1p36 deletion syndrome locus.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Dima El-Khechen, Kelly Gonzalez, Layla Shahmirzadi, Sha Tang, Brigette Tippin Davis, Wenqi Zeng, AHM Mahbubul Huq, Lindsey Murray. Diagnostic exome sequencing (DES) unmasks two discrete genetic etiologies in a patient with ataxia and epilepsy: Dual molecular diagnosis in a patient highlights the utility of diagnostic exome sequencing.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Kelly Gonzalez, Sha Tang, Cameron Mroske, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Ruth Baxter, Brigette Tippin, Wenqi Zeng, Elizabeth C. Chao. Diagnostic exome sequencing (DES) unravels novel gene findings in a significant portion of previously undiagnosed patients.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Ruth Baxter, Kelly Farwell Gonzalez, Megan Truitt, Kwame Anyane-Yeboa, Wenqi Zeng. Diagnostic exome sequencing identifies a de novo variant in a consanguineous family.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Stephanie K. Gandomi, Kelly D. Gonzalez, Dana Craiu, Johannes Lemke, Julie Cohen, Layla Shahmirzadi, Ira Lu, Sha Tang, Brigette Tippin Davis, Wenqi Zeng, Elizabeth Chao. Exome sequencing identifies five mutations in the DYNC1H1 gene associated with severe neurological phenotypes.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Sha Tang, Kelly Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Stephanie Gandomi, Ira Lu, Cameron Mroske, Ruth Baxter, Xiang Li, Brigette Tippin, Wenqi Zeng, Elizabeth Chao. Mutations in newly discovered Mendelian disease genes represent a significant portion of positive findings in diagnostic exome sequencing (DES).
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Layla Shahmirzadi, Kelly Gonzalez, Sha Tang, Jill Dolinsky, Dima El-Kheche, Stephanie Gandomi, Zöe Powis, Ira Lu, Cameron Mroske, Ruth Baxter, Brigette Tippin, Wenqi Zeng, Elizabeth Chao. Negative diagnostic exome sequencing results: A retrospective analysis of the phenotypic spectrum of patients with negative exome sequencing results.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Holly LaDuca, J. D'Souza, Sarah Witherington, Chia-Ling Gau. Proband with MSH2 and PTEN germline alterations identified on multi-gene panel testing.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Kendra Walker, Jade Tinker, Elaine Chen, Ira Lu, Tami Johnston, Melissa Parra, Tim Vo, Chia-Ling Gau. Reclassification of historical mutations in the CFTR gene for cystic fibrosis reveals that 37% of previously-classified "mutations" are variants of unknown significance or benign alterations.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Brigette Tippin Davis, Jill S. Dolinsky, Kendra Waller, A. Muirhead, J. Neidich, S. Mexal, Robert Hoiness, J. Cook. Results from multigene panel testing for 79 pan-cardio genes.
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Zöe Powis, Erika Palmaer, Kelly Gonzalez, Cameron Mroske, Layla Shahmirzadi, Dima El-Khechen, Stephanie Gandomi, Ruth Baxter, Wenqi Zeng, Elizabeth Chao, Sha Tang. Roughly half of patients presenting with ataxia and/or spasticity receive a definitive diagnosis with diagnostic exome sequencing (DES).
Poster # tbd
Tuesday, March 25, 2014 12:00 - 12:00pm Poster
Stephany Tandy, Kelly Gonzalez, Layla Shahmirzadi, Wendy K. Chung, Rebecca Sisson, Jessica Mester, Charis Eng, Amie Blanco, Jonathan Terdiman, Tina Pesaran, Frances Oh, Timothy Vo, Sha Tang, Chia-Ling Gau. The ever-expanding clinical phenotype associated with PTEN gene mutations: Two remarkably different cases involving the PTEN mutation p.D24G detected by Sanger sequencing and exome sequencing analyses.