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

Clinical Genomics

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm

Conference:
ACMG 2014

Authors:
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

Collaborators:

University of California, Irvine

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

Clinical Genomics

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm

Conference:
ACMG 2014

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

Collaborators:

Boston University

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

Clinical Genomics

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm

Conference:
ACMG 2014

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

Collaborators:

University of California, Irvine

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

Clinical Genomics

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm

Conference:
ACMG 2014

Authors:
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

Collaborators:

EuroEPINOMICS, European Science Foundation
Inselspital University Hospital Bern
Kennedy Krieger Institute

Poster
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

Clinical Genomics

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm

Conference:
ACMG 2014

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

Collaborators:

Karmanos Cancer Institute, Wayne State University

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

Clinical Genomics

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm

Conference:
ACMG 2014

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

Collaborators:

Columbia University Irving Medical Center

Poster
Results from multigene panel testing for 79 pan-cardio genes

Cardiology

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm

Conference:
ACMG 2014

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

Collaborators:

GeneDx
Partners HealthCare Personalized Medicine, Cambridge, MA

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

Oncology

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm

Conference:
ACMG 2014

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

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

Oncology

Date:
Tuesday, Mar 25, 2014 12:00am – 12:00pm

Conference:
ACMG 2014

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

Collaborators:

Center for Genetic Medicine, Northwestern University
University of California, Irvine

Poster
Novel mutation in CLTC associated with anomalous development

Clinical Genomics

Date:
Wednesday, Jan 1, 2014 12:00pm – 1:05am

Conference:
ASHG 2016

Authors:
Sha Tang, J. DeMari, R. Miller, Cameron Mroske, J. Nimeh, R. Lebel

Collaborators:

SUNY Upstate Medical University, Syracuse, NY

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

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

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

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

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

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

Results from multigene panel testing for 79 pan-cardio genes

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

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

Novel mutation in CLTC associated with anomalous development

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