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Teasing out the PALB2 phenotype

General

Date:
Tuesday, Dec 9, 2014 12:00am – 12:00pm

Conference:
SABCS 2014

Authors:
Emily Dalton, Holly Laduca, Shuwei Li, Rachel McFarland, Chia-Ling Gau, PhD, DABMG

Abstract Poster
Results of next-generation sequencing panels in a large community-based hereditary cancer risk program

General
Oncology

Date:
Tuesday, Dec 9, 2014 12:00am – 12:00pm

Conference:
SABCS 2014

Authors:
Blum JL, Garby CA, Simmons AE, Walker SA, Panos LE

Collaborators:

Baylor Charles A. Sammons Cancer Center
Baylor University Medical Center

Poster Abstract
Navigating the benefits and limitations of current molecular testing options for the clinical identification of disease-causing PCDH19 mutations

Neurology

Date:
Friday, Dec 5, 2014 12:00am – 12:00pm

Conference:
AES 2014

Authors:
Stephanie Gandomi, Melissa Parra, MS, CGC, Brigette Tippin Davis, Kelly Farwell, Ruth Baxter

Poster
Defining allelic heterogeneity among clinically important mutations in CFTR

General

Session:
#170

Date:
Sunday, Oct 19, 2014 12:00am – 12:00pm

Conference:
NAFC 2014

Authors:
J. Hong, E.J. Sorscher, Z. Plyler, S. Keiles

Collaborators:

University of Alabama at Birmingham

Poster
Enhanced detection of large indels in diagnostic exome sequencing

Clinical Genomics

Date:
Saturday, Oct 18, 2014 12:00am – 12:00pm

Conference:
ASHG 2014

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

Poster Abstract
Diagnostic exome sequencing establishes molecular diagnoses among patients with gastrointestinal disease

Clinical Genomics

Date:
Saturday, Oct 18, 2014 12:00am – 12:00pm

Conference:
ASHG 2014

Authors:
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

Collaborators:

University of California, Irvine

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

Clinical Genomics

Date:
Saturday, Oct 18, 2014 12:00am – 12:00pm

Conference:
ASHG 2014

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

Collaborators:

University of Mississippi Medical Center

Poster Abstract
Diagnostic exome sequencing as the foundation of building pharmacogenomics-based therapeutic models for the treatment of ion channel epilepsy

Clinical Genomics

Date:
Saturday, Oct 18, 2014 12:00am – 12:00pm

Conference:
ASHG 2014

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

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

Clinical Genomics

Date:
Saturday, Oct 18, 2014 12:00am – 12:00pm

Conference:
ASHG 2014

Authors:
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

Collaborators:

University of California, Irvine

Poster Abstract
Majority of PTEN mutations identified on multi-gene panel tests are in non-classic patients: Expanding clinical phenotype or incomplete clinical history?

General

Date:
Saturday, Oct 18, 2014 12:00am – 12:00pm

Conference:
ASHG 2014

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

Poster Abstract

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Teasing out the PALB2 phenotype

Results of next-generation sequencing panels in a large community-based hereditary cancer risk program

Navigating the benefits and limitations of current molecular testing options for the clinical identification of disease-causing PCDH19 mutations

Defining allelic heterogeneity among clinically important mutations in CFTR

Enhanced detection of large indels in diagnostic exome sequencing

Diagnostic exome sequencing establishes molecular diagnoses among patients with gastrointestinal disease

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

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

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

Majority of PTEN mutations identified on multi-gene panel tests are in non-classic patients: Expanding clinical phenotype or incomplete clinical history?

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