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Personalized genomic testing (PGT) reporting preferences among over 2,500 individuals and healthcare providers (HCPs): Healthy individuals deem medical risk factors as the most important reason to pursue genetic testing

Primary Care

Session:
#408

Date:
Friday, Apr 13, 2018 10:30am – 12:00pm

Conference:
ACMG 2018

Authors:
Layla Mowlavi, Sebastien Marcq, Stephany Tandy-Connor,, Brigette Tippin Davis, Kelly Farwell Hagman, Melissa Para

Abstract Poster
DNA Breakpoint Assay Reveals a Majority of Gross Duplications Occur in Tandem Reducing VUS Classifications in Breast Cancer Predisposition Genes

Research

Session:
#136

Date:
Friday, Apr 13, 2018 10:30am – 12:00pm

Conference:
ACMG 2018

Authors:
Marcy Richardson, Wenbo Mu, Tina Pesaran, MA, MS, CGC, Aaron Elliott, Phillip Gray, Rachid Karam, PhD, Hansook Chong, Blair R. Conner, Vickie Hsuan, Sara Willett, Stephanie Lam, Min-Sun Park, Lisa Tsai

Abstract Poster
Genetic Testing for Epilepsy in Adults

Clinical Genomics

Session:
#604

Date:
Friday, Apr 13, 2018 10:30am – 12:00pm

Conference:
ACMG 2018

Authors:
Kirsten Blanco, Amanda Bergner, Sha Tang, Zöe Powis, Kelly Farwell Hagman, Elaine C. Weltmer, Jing Wang

Abstract Poster
Clinical Diagnostic Exome Sequencing in Dystonia: the Challenges of Genetic Testing for Complex Conditions

Clinical Genomics

Session:
#168

Date:
Friday, Apr 13, 2018 10:30am – 12:00pm

Conference:
ACMG 2018

Authors:
Kirsten Blanco, Amanda Bergner, Sha Tang, Zöe Powis, Kelly Farwell Hagman, Elaine C. Weltmer, Jing Wang

Abstract Poster
BRCA1/2 testing criteria offer high clinical sensitivity for ATM, PALB2 and CHEK2 carriers in a multigene panel cohort

Oncology

Session:
#108

Date:
Friday, Apr 13, 2018 10:30am – 12:00pm

Conference:
ACMG 2018

Authors:
Carrie Horton, Holly Laduca, Lily Hoang, Ashley Deckman

Abstract Poster
Integrating Functional and Structural Analyses Improves the Assessment of BRCA1 Missense Variants of Unknown Significance

Research

Session:
#121

Date:
Thursday, Apr 12, 2018 10:00am – 11:30am

Conference:
ACMG 2018

Authors:
Marcy Richardson, Tina Pesaran, MA, MS, CGC, Adam Chamberlin, Brigette Tippin Davis, Rachid Karam, PhD, Charles Yi, Vickie Hsuan, Lucia Guidugli, J. Parvin

Collaborators:

Ohio State University (OSU)

Abstract Poster
Genes with therapeutic associations responsible for majority of epilepsy mutations and minority of epilepsy VUS

Neurology

Session:
#621

Date:
Thursday, Apr 12, 2018 10:00am – 11:30am

Conference:
ACMG 2018

Authors:
Amal Yussuf, Elaine C. Weltmer, Heather Newman, Jing Wang

Abstract Poster
Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation

Clinical Genomics

Session:
#399

Date:
Thursday, Apr 12, 2018 10:00am – 11:30am

Conference:
ACMG 2018

Authors:
Sha Tang, Margo Sheck, Samin Sajan, Lakshmi Mehta

Collaborators:

Icahn School of Medicine at Mount Sinai

Abstract
Biallelic gene disrupting variants in PKDCC cause a skeletal disorder characterized by rhizomelic shortening of extremities and distinctive facial features

Clinical Genomics

Session:
#673

Date:
Thursday, Apr 12, 2018 10:00am – 11:30am

Conference:
ACMG 2018

Authors:
Deepali Shinde, Sha Tang, Samin Sajan, Zöe Powis, Jaya Ganesh, Maria I Scarano, Jennifer Stone, Susan Winter

Abstract Poster
Biallelic, and not monoallelic, loss of function variants in TRIM63 most likely cause cardiomyopathy

Clinical Genomics

Session:
#727

Date:
Thursday, Apr 12, 2018 10:00am – 11:30am

Conference:
ACMG 2018

Authors:
Deepali Shinde, Sha Tang, Samin Sajan, Zöe Powis, Dima El-Khechen, Wendy Chung

Collaborators:

Columbia University

Abstract Poster

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Personalized genomic testing (PGT) reporting preferences among over 2,500 individuals and healthcare providers (HCPs): Healthy individuals deem medical risk factors as the most important reason to pursue genetic testing

DNA Breakpoint Assay Reveals a Majority of Gross Duplications Occur in Tandem Reducing VUS Classifications in Breast Cancer Predisposition Genes

Genetic Testing for Epilepsy in Adults

Clinical Diagnostic Exome Sequencing in Dystonia: the Challenges of Genetic Testing for Complex Conditions

BRCA1/2 testing criteria offer high clinical sensitivity for ATM, PALB2 and CHEK2 carriers in a multigene panel cohort

Integrating Functional and Structural Analyses Improves the Assessment of BRCA1 Missense Variants of Unknown Significance

Genes with therapeutic associations responsible for majority of epilepsy mutations and minority of epilepsy VUS

Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation

Biallelic gene disrupting variants in PKDCC cause a skeletal disorder characterized by rhizomelic shortening of extremities and distinctive facial features

Biallelic, and not monoallelic, loss of function variants in TRIM63 most likely cause cardiomyopathy

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