General Archives

Presentation

The clinical and psychosocial complexities of obtaining a diagnosis for rare genetic disorders: Navigating the diagnostic odyssey

General

Speakers:

Elizabeth Chao, Stephanie Gandomi, Kelly Gonzalez, Amy Clugston, Jonathan Rodis, Nicole Boice

Conference:

NSGC 2014

Friday, Sep 19, 2014 3:15pm – 4:45pm

Poster

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

General

Date:

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

Conference:

ACMG 2014

Authors:

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

Poster

11p13 microdeletion involving partial deletion of ELP4 in a newborn patient without aniridia

General

Date:

Wednesday, Oct 21, 2015 12:00am – 12:00pm

Conference:

NSGC 2015

Authors:

Vruti Mehta, Anne M. Bandholz, Caroline Williams, Robert Pedersen, Melissa Pronold, Jianbo Song, Zöe Powis, Christina Alamillo, Chia-Ling Gau, PhD, DABMG

Poster

Communication strategies utilized by people with NF2 and hearing loss

General

Date:

Wednesday, Oct 21, 2015 12:00am – 12:00pm

Conference:

NSGC 2015

Authors:

Amanda Bergner, Jennifer Smart

Collaborators:

Johns Hopkins Medical Institution

Abstract

Presentation

A recurrent mutation in KCNA2 in complicated autosomal dominant spastic paraplegia: An expansion of the channelopathy spectrum and a novel disease mechanism

General

Speakers:

K.L. Helbig, U.B.S. Hedrich, A.C. Teichmann, J. Hentschel, D.N. Shinde, W.A. Alcaraz, S. Tang, C. Jungbluth, S.L. Dugan, R. Schu00fcle, H. Lerche, J.R. Lemke

Conference:

ASHG 2015

Tuesday, Oct 6, 2015 12:00am – 12:00pm

Abstract

Poster

Variant of Unknown Significance rates vary by ethnicity and genes analyzed

General

Date:

Tuesday, Oct 6, 2015 12:00am – 12:00pm

Conference:

ASHG 2015

Authors:

L. Panos, J. Thompson, V. Speare, J. Dolinsky, K. Panchani, H. LaDuca

Poster Abstract

Poster

Single gene (SGT) vs. Multi-gene panel testing (MGPT) for TP53 germline mutations in Li Fraumeni syndrome (LFS)

General

Date:

Tuesday, Oct 6, 2015 12:00am – 12:00pm

Conference:

ASHG 2015

Authors:

Huma Rana, Holly Laduca, Emily Dalton, Virginia Speare, Jill Dolinsky, Elizabeth Chao, Judy E. Garber, Rebecca Gelman, Jennifer Thompson, Rachel McFarland

Collaborators:

Dana Farber Cancer Institute

University of California, Irvine

Abstract Poster

Poster