Clinical Genomics Archives - Page 16 of 20 - Ambry Genetics

Presentation
Knocking Out a Titan: Assessing the Effect of Truncating TTN Alterations in a Large Clinical Cohort.

Clinical Genomics

Speakers:
Jesse Hunter

Conference:
ACMG 2017

Thursday, Mar 23, 2017 9:15am – 9:30am
Presentation
Germline Genetic Testing in Unselected Pancreatic Ductal Adenocarcinoma (PDAC) Patients.

Clinical Genomics

Session:
#1501

Speakers:
Maryu00a0Lintonu00a0Bounetheauu00a0Peters, Randallu00a0Brand, Erkutu00a0Hasanu00a0Borazanci, Lindseyu00a0Stobie, Bethu00a0Dudley, Eveu00a0Karloski, Jamesu00a0Moser, Arleneu00a0Colvin, Cynthiau00a0Lim, Nathanu00a0Bahary, Weijingu00a0Sun, Johnu00a0C.u00a0Rhee, Barryu00a0C.u00a0Lembersky, Ronaldu00a0G. Stoller, Holly LaDuca, Jillu00a0Su00a0Dolinsky, Emilyu00a0Dalton, Virginiau00a0Speare, Maryu00a0Helenu00a0Black, Nadineu00a0M.u00a0Tung

Conference:
ASCO 2017

Friday, Jun 2, 2017 8:10am – 8:25am

Abstract
Poster
Structural quantification, discrimination, and reclassification (SURF) of pathogenic variants

Clinical Genomics

Date:
Sunday, Jun 12, 2016 11:00am – 12:00pm

Conference:
—

Authors:
Adam Chamberlin, Hsiao-Mei Lu, Robert Huether, Tina Pesaran, MA, MS, CGC

Poster Abstract
Poster
Clinical Validity scoring of Gene-Disease Associations in Diagnostic Exome Sequencing: Effects on Reporting and Reanalysis

Clinical Genomics

Date:
Wednesday, Jun 22, 2016 11:00am – 12:00am

Conference:
Curating the Clinical Genome 2016

Authors:
Deepali Shinde, Erica Smith, Kelly Hagman, MS, CGC, LGC, Kelly Radtke, Layla Shahmirzadi, Mari Rossi, Sha Tang

Abstract Poster
Poster
Exploring trends in mutation distribution of multi-gene panel testing based on ethnicity

Clinical Genomics

Date:
Wednesday, Jun 22, 2016 11:00am – 12:00pm

Conference:
Curating the Clinical Genome 2016

Authors:
Jill Dolinsky, Laura Panos, Melissa Pronold, Patrick Reineke, Rachel McFarland, Shuwei Li

Poster Abstract
Poster
Secondary findings in trio family members of probands undergoing diagnostic exome sequencing

Clinical Genomics

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

Conference:
NSGC 2016

Authors:
Christina L. Alamillo, Kelly Hagman, MS, CGC, LGC, Layla Shahmirzadi, Sha Tang, Taylor Cain, Zöe Powis
Poster
Continued coverage and reimbursement challenges for diagnostic exome sequencing after 5 years, genetic counselors can help to overturn denied cases

Clinical Genomics

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

Conference:
NSGC 2016

Authors:
Kelly Hagman, MS, CGC, LGC, Layla Shahmirzadi, Sha Tang, Taylor Cain, Zöe Powis

Abstract
Poster
All in the family: A first look at outcomes when multiple relatives undergo multi-gene panel testing

Clinical Genomics

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

Conference:
NSGC 2016

Authors:
Amal Yussuf, Holly Laduca, Kush Panchani, Monalyn Umali

Poster Abstract
Poster
Secondary findings on diagnostic exome sequencing: Patient preferences and detection rates based on 1500 DES samples tested at a single clinical laboratory in the United States.

Clinical Genomics

Date:
Saturday, May 21, 2016 3:00pm – 4:21pm

Conference:
ESHG 2016

Authors:
Christina L. Alamillo, Kelly Hagman, MS, CGC, LGC, Layla Shahmirzadi, Michael Osborne, Sha Tang, Zöe Powis

Abstract Poster
Poster
Intermediate FMR1 CGG repeat sizes (35-54) may also contribute to fertility issues in women with potential premature ovarian insufficiency

Clinical Genomics

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

Conference:
NSGC 2016

Authors:
Amal Yussuf, Elaine C. Weltmer, Jing Wang, Tiffiney Carter, Zöe Powis

Poster Abstract

… …