Clinical Genomics Archives

Poster

From a trio to a duo: Non-paternity identified through diagnostic exome sequencing

Clinical Genomics

Date:

Wednesday, Sep 28, 2016 11:00am – 12:00pm

Conference:

NSGC 2016

Authors:

Sha Tang, Taylor Cain, Zöe Powis, Dima El-Khechen

Abstract Poster

Poster

EpiGC: A collaborative approach to an emerging professional and clinical need

Clinical Genomics

Date:

Wednesday, Sep 28, 2016 11:00am – 12:00pm

Conference:

NSGC 2016

Authors:

Amanda Bergner, Stephanie Gandomi, Beth Rosen Sheidley, Katherine Helbig

Abstract Poster

Poster

Facing the challenge of genetic counselors’ need for education about genomic technologies: Opportunities for improvement in training for genetic counselors

Clinical Genomics

Date:

Wednesday, Sep 28, 2016 11:00am – 12:00pm

Conference:

NSGC 2016

Authors:

Devon Lamb Thrush, Kimerbly Banks, Samantha Freeze, Darnelle L. Dorsainville, JennifertEichmeyer, Kelly Farwell Hagman

Abstract Poster

Poster

A novel autosomal recessive alteration in the RYR1 gene in a patient with profound hypotonia

Clinical Genomics

Date:

Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:

ASHG 2016

Authors:

Adam Chamberlin, Sha Tang, Zöe Powis

Collaborators:

SUNY Upstate Medical University, Syracuse, NY

Abstract Poster

Poster

The PTEN Gene ClinGen Expert Panel: A model for creating a framework for gene specific criteria using ACMG guidelines

Clinical Genomics

Date:

Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:

ASHG 2016

Authors:

Tina Pesaran, MA, MS, CGC, Rachid Karam, PhD, Robert Huether

Collaborators:

ClinGen

Abstract Poster

Poster

Cancer risks are elevated among relatives of MRE11A, RAD50 and NBN mutation carriers but similar to mutation negative families in a laboratory based cohort

Clinical Genomics

Date:

Sunday, Oct 16, 2016 11:00am – 12:00pm

Conference:

ASHG 2016

Authors:

Shuwei Li, Virginia Speare, Holly Laduca, Dajun Qian, Hsiao-Mei Lu

Collaborators:

Stanford

Abstract Poster

Poster

Clinical laboratories implement the ACMG/AMP guidelines to resolve differences in variant interpretations submitted to ClinVar.

Clinical Genomics

Date:

Tuesday, Mar 8, 2016 1:05pm – 3:15pm

Conference:

ACMG 2016

Authors:

Jill Dolinsky, Tina Pesaran, MA, MS, CGC, Elizabeth Chao, Steven M. Harrison, Lisa Vincent, Amy Knight Johnson, Danielle R. Azzariti, Soma Das, Sherri Bale, Heidi L. Rehm

Collaborators:

ClinVar

Abstract

Poster

A novel RPL35A mutation associated with Diamond-Blackfan Anemia

Clinical Genomics

Date:

Thursday, Nov 10, 2016 12:00pm – 1:00am

Conference:

—

Authors:

Brissa Martin, Guang Yang, Jun Wang, Edward Rowsell, Ross Fisher

Poster

Identification and evaluation of rare, Congenital Central Hypoventilation Syndrome (CCHS)-causing PHOX2B non-polyalanine repeat expansion mutations (NPARMs) and associated phenotypes.

Clinical Genomics

Session:

#96

Date:

Wednesday, Nov 2, 2016 8:00pm – 9:00pm

Conference:

—

Authors:

Patrick Reineke, Christy Moore, Virginia Speare, Amy Zhou, Casey M. Rand, Elizabeth M. Berry-Kravis, Lili Zhou, Min Yu, Lawrence J. Jennings, Debra E. Weese-Mayer

Poster Abstract

Poster

False Positive Results Reported by Direct-To-Consumer Genetic Tests Highlight the Importance of Clinical Confirmation Testing for Appropriate Patient Care

Clinical Genomics

Session:

#227

Date:

Thursday, Mar 23, 2017 10:00am – 12:00pm

Conference:

ACMG 2017

Authors:

Stephany Tandy-Connor,, Jenna Guiltinan,, Patrick Reineke, Stephanie Gutierrez, Holly Laduca, Brigette Tippin Davis, Kate Krempely

Poster Abstract