ACMG 2014

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

Poster

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

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

Poster

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

Results from multigene panel testing for 79 pan-cardio genes

Poster

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

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

Poster

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

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

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

Poster

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

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

Poster

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

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

Poster

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

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

Poster

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

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

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

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

Poster

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

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

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