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Diagnostic exome sequencing with inheritance model-based analysis: Results from a cohort of 81 probands referred with cardiac indications as compared to the group of 500 unselected families with undiagnosed genetic conditions

Cardiology

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

Conference:
NSGC 2015

Authors:
Brigette Tippin Davis, Megan Bunnell, Kelly D. Farwell, Zöe Powis

Collaborators:

Northwestern University Feinberg School of Medicine

Poster
Phenotype comparison between founder and non-founder CHEK2 mutation carriers

Oncology

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

Conference:
NSGC 2015

Authors:
Holly Laduca, Shuwei Li, Elizabeth Chao, Tracey Leedom, Rachel McFarland

Collaborators:

University of California, Irvine

Poster
Characteristics of Li-Fraumeni Syndrome in a CHEK2 multi-gene panel cohort

Oncology

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

Conference:
NSGC 2015

Authors:
Holly Laduca, Shuwei Li, Elizabeth Chao, Leslie Bucheit, Carla Mason, Rachel McFarland

Poster Abstract
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
POLD1 and POLE: Preliminary data from a laboratory-based multi-gene panel testing cohort

Oncology

Date:
Sunday, Oct 11, 2015 12:00am – 12:00pm

Conference:
CGA-IGC 2015

Authors:
AJ Stuenkel, Brandon Smith, Tina Pesaran, MA, MS, CGC, Carin R. Espenschied, Rachel McFarland

Poster Abstract
MSH2 inversion phenotype is similar to other MSH2 mutations

Oncology

Date:
Sunday, Oct 11, 2015 12:00am – 12:00pm

Conference:
CGA-IGC 2015

Authors:
Stephany Tandy-Connor,, Carin R. Espenschied, Sara Calicchia, Rachel McFarland, Elizabeth C. Chao

Abstract Poster
Multiple mutations in Lynch syndrome: Case report and experience of one clinical laboratory

Oncology

Date:
Sunday, Oct 11, 2015 12:00am – 12:00pm

Conference:
CGA-IGC 2015

Authors:
Emily K. Dalton, Rachel McFarland, Jessica Cary

Poster Abstract
Beyond the usual suspects: Features of hereditary colorectal cancer in a CHEK2 cohort

Oncology

Date:
Sunday, Oct 11, 2015 12:00am – 12:00pm

Conference:
CGA-IGC 2015

Authors:
Jessica Grzybowski, Holly Laduca, Leslie Bucheit, Rachel McFarland

Abstract Poster
A case of de novo Lynch syndrome with germline mosaicism

Oncology

Date:
Sunday, Oct 11, 2015 12:00am – 12:00pm

Conference:
CGA-IGC 2015

Authors:
Heather Hampel, Holly Laduca, Peter Stanich, Therese Tuohy, Nykole Sutherland, Angela Snow

Collaborators:

Huntsman Cancer Institute
Ohio State University Comprehensive Cancer Center
The Ohio State University Wexner College of Medicine

Poster Abstract
Novel gene discovery in the epilepsies using diagnostic exome sequencing

Clinical Genomics

Date:
Wednesday, Oct 7, 2015 12:00am – 12:00pm

Conference:
CNS 2015

Authors:
Sha Tang, Amanda L. Bergner, Katherine L. Helbig, Zöe Powis, Deepali N. Shinde, Kelly Farwell Hagman

Abstract Poster

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Diagnostic exome sequencing with inheritance model-based analysis: Results from a cohort of 81 probands referred with cardiac indications as compared to the group of 500 unselected families with undiagnosed genetic conditions

Phenotype comparison between founder and non-founder CHEK2 mutation carriers

Characteristics of Li-Fraumeni Syndrome in a CHEK2 multi-gene panel cohort

Communication strategies utilized by people with NF2 and hearing loss

POLD1 and POLE: Preliminary data from a laboratory-based multi-gene panel testing cohort

MSH2 inversion phenotype is similar to other MSH2 mutations

Multiple mutations in Lynch syndrome: Case report and experience of one clinical laboratory

Beyond the usual suspects: Features of hereditary colorectal cancer in a CHEK2 cohort

A case of de novo Lynch syndrome with germline mosaicism

Novel gene discovery in the epilepsies using diagnostic exome sequencing

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