ACMG 2014

Beyond BRCA1/2: Expanding phenotypes for probands with CDH1, PTEN, STK11, and TP53 mutations

Poster

Holly Laduca, AJ Stuenkel, Jill Dolinksy, B. Weerasuriya, Jennifer Thompson, A. Mercier, E. Fassi, Elizabeth C. Chao

Proband with MSH2 and PTEN germline alterations identified on multi-gene panel testing

Poster

Holly Laduca, J. D’Souza, Sarah Witherington, Chia-Ling Gau, PhD, DABMG

Results from multigene panel testing for 79 pan-cardio genes

Poster

Brigette Tippin Davis, Jill Dolinsky, Kendra Waller, A. Muirhead, J. Neidich, S. Mexal, Robert Hoiness, J. Cook

Diagnostic exome sequencing identifies a de novo variant in a consanguineous family

Poster

Ruth Baxter, Kelly Farwell Gonzalez, Megan Truitt, Kwame Anyane-Yeboa, Wenqi Zeng

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

Sha Tang, Brigette Tippin Davis, Dima El-Khechen, Kelly Gonzalez, Layla Shahmirzadi, Wenqi Zeng, AHM Mahbubul Huq, Lindsey Murray

Exome sequencing identifies five mutations in the DYNC1H1 gene associated with severe neurological phenotypes

Poster

Julie Cohen, Sha Tang, Brigette Tippin Davis, Elizabeth Chao, Stephanie K. Gandomi, Kelly D. Gonzalez, Dana Craiu, Johannes Lemke, Layla Shahmirzadi, Ira Lu, Wenqi Zeng

Diagnostic exome sequencing (DES) unravels novel gene findings in a significant portion of previously undiagnosed patients

Poster

Sha Tang, Kelly Gonzalez, Cameron Mroske, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Ruth Baxter, Brigette Tippin, Wenqi Zeng, Elizabeth C. Chao

Roughly half of patients presenting with ataxia and/or spasticity receive a definitive diagnosis with diagnostic exome sequencing (DES)

Poster

Stephanie Gandomi, Elizabeth Chao, Sha Tang, Zöe Powis, Erika Palmaer, Kelly Gonzalez, Cameron Mroske, Layla Shahmirzadi, Dima El-Khechen, Ruth Baxter, Wenqi Zeng

Negative diagnostic exome sequencing results: A retrospective analysis of the phenotypic spectrum of patients with negative exome sequencing results

Poster

Sha Tang, Jill Dolinsky, Stephanie Gandomi, Elizabeth Chao, Layla Shahmirzadi, Kelly Gonzalez, Dima El-Kheche, Zöe Powis, Ira Lu, Cameron Mroske, Ruth Baxter, Brigette Tippin, Wenqi Zeng

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

Poster

Tina Pesaran, MA, MS, CGC, Sha Tang, Stephany Tandy, Kelly Gonzalez, Layla Shahmirzadi, Wendy K. Chung, Rebecca Sisson, Jessica Mester, Charis Eng, Amie Blanco, Jonathan Terdiman, Frances Oh, Timothy Vo, Chia-Ling Gau, PhD, DABMG

Mutations in newly discovered Mendelian disease genes represent a significant portion of positive findings in diagnostic exome sequencing (DES)

Poster

Sha Tang, Stephanie Gandomi, Elizabeth Chao, Kelly Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Ira Lu, Cameron Mroske, Ruth Baxter, Xiang Li, Brigette Tippin, Wenqi Zeng

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

Jade Tinker, Tami Johnston, Melissa Parra, MS, CGC, Kendra Walker, Elaine Chen, Ira Lu, Tim Vo, Chia-Ling Gau, PhD, DABMG