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Further defining the polyposis phenotype associated with PTEN mutations

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

Collaborators:

University of California, Irvine

Poster
Mutations in STK11 identified exclusively in individuals with clinical histories suggestive of Peutz-Jeghers syndrome

General

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

Conference:
ASHG 2014

Authors:
J.S. Dolinsky, S.B. Keiles, T.F. Pesaran, C. Horton, M. Umali, K. McGoldrick, S. Li, E. Chao

Collaborators:

University of California, Irvine

Abstract Poster
Novel mutation in CLTC associated with anomalous development

General

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

Conference:
ASHG 2014

Authors:
J. DeMari, R. Miller, S. Tang, C. Mroske, J. Nimeh, R. Lebel

Collaborators:

SUNY Upstate Medical University, Syracuse, NY

Poster
A retrospective analysis of diagnostic exome sequencing results among neonatal patients

Clinical Genomics

Date:
Tuesday, Oct 14, 2014 12:00am – 12:00pm

Conference:
FANNP 2014

Authors:
Tehila Ness, Stephanie Gandomi, Kelly Radtke, Deepali Shinde, Vruti Mehta, Marilyn Tsang, Brigette Tippin Davis, Elizabeth Chao, Sha Tang, Layla Shahmirzadi, Kelly Gonzalez, Dima El-Khechen, Zöe Powis, Christina Alamillo, Christian Gund, Katherine Helbig, Ira Lu, Cameron Mroske, Ruth Baxter

Collaborators:

University of California, Irvine

Poster
Diagnostic exome sequencing provides a diagnosis for half of neonatal patients: A retrospective analysis of detection rates and phenotypes among neonates

Clinical Genomics

Date:
Saturday, Oct 11, 2014 12:00am – 12:00pm

Conference:
AAP 2014

Authors:
Tehila Ness, Stephanie Gandomi, Kelly Radtke, Deepali Shinde, Vruti Mehta, Marilyn Tsang, Brigette Tippin Davis, Elizabeth Chao, Sha Tang, Layla Shahmirzadi, Kelly Farwell, Dima El-Khechen, Zöe Powis, Christina Alamillo, Christian Gund, Katherine Helbig, Ira Lu, Cameron Mroske, Ruth Baxter

Collaborators:

University of California, Irvine

Poster
Diagnostic exome sequencing for patients with a family history of consanguinity: Over 40% of positive results do not follow an autosomal recessive pattern

Clinical Genomics

Date:
Wednesday, Sep 17, 2014 12:00am – 12:00pm

Conference:
NSGC 2014

Authors:
Zöe Powis, Kelly Gonzalez, Cameron Mroske, Layla Shahmirzadi, Dima El-Khechen

Collaborators:

University of California, Irvine

Abstract
Multi-gene testing for paragangliomas and pheochromocytomas: Diagnostic yield and phenotypic spectrum

General

Date:
Wednesday, Sep 17, 2014 12:00am – 12:00pm

Conference:
NSGC 2014

Authors:
Sarah Witherington, Carolyn Horton, Jill Dolinksy
Patients with multiple pathogenic mutations detected by multi-gene panel testing in a Lynch syndrome cohort

Oncology

Date:
Wednesday, Sep 17, 2014 12:00am – 12:00pm

Conference:
NSGC 2014

Authors:
Holly Laduca, Tina Pesaran, MA, MS, CGC, Carin Espenschied, Pia Summerour, Carla Mason, Carolyn Horton

Abstract
NF1 mutations detected on multi-gene cancer panel testing in probands with atypical phenotypes.

General

Date:
Wednesday, Sep 17, 2014 12:00am – 12:00pm

Conference:
NSGC 2014

Authors:
—

Abstract
Cost should not be a barrier to genetic testing in patients with paragangliomas and pheochromocytomas

General

Date:
Wednesday, Sep 17, 2014 12:00am – 12:00pm

Conference:
NSGC 2014

Authors:
Jill Dolinsky, Katherine Nathanson, Shana L Merrill, Sarah Witherington, Jennifer Thompson, Lauren Fishbein

Abstract

… …

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Further defining the polyposis phenotype associated with PTEN mutations

Mutations in STK11 identified exclusively in individuals with clinical histories suggestive of Peutz-Jeghers syndrome

Novel mutation in CLTC associated with anomalous development

A retrospective analysis of diagnostic exome sequencing results among neonatal patients

Diagnostic exome sequencing provides a diagnosis for half of neonatal patients: A retrospective analysis of detection rates and phenotypes among neonates

Diagnostic exome sequencing for patients with a family history of consanguinity: Over 40% of positive results do not follow an autosomal recessive pattern

Multi-gene testing for paragangliomas and pheochromocytomas: Diagnostic yield and phenotypic spectrum

Patients with multiple pathogenic mutations detected by multi-gene panel testing in a Lynch syndrome cohort

NF1 mutations detected on multi-gene cancer panel testing in probands with atypical phenotypes.

Cost should not be a barrier to genetic testing in patients with paragangliomas and pheochromocytomas

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