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High-throughput characterization of BRCA1 and BRCA2 splicing defects

Clinical Genomics

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

Conference:
ASHG 2016

Authors:
Rachid Karam, PhD, Tina Pesaran, MA, MS, CGC, Aaron Elliott, Suzette Faber-Katz, Vickie Hsuan, Sitao Wu, Hsiao-Mei Lu, Robert Huether, Stephanie Lam, Jayne Hoo, Yuriy Shevchenko

Poster Abstract
Diagnostic exome sequencing identifies a novel homozygous alteration in DEAF1 further delineating the phenotypic spectrum

Clinical Genomics

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

Conference:
ASHG 2016

Authors:
Wendy Alcaraz, Christian Gund, Samin Sajan, Zöe Powis, A. Vashist, P. Suwannarat

Abstract Poster
Reclassifying duplication variants in high-risk cancer genes by identifying tandem duplication breakpoints

Clinical Genomics

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

Conference:
ASHG 2016

Authors:
Wenbo Mu, Adam Chamberlin, Rachid Karam, PhD, Tina Pesaran, MA, MS, CGC, Aaron Elliott, Hansook Chong, Sara Willett, Stephanie Lam, Robert Huether, Heidi Lu

Abstract Poster
Diagnostic yield for chromosome microarray analysis in patients with autistic features

Clinical Genomics

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

Conference:
ASHG 2016

Authors:
Vruti Mehta, Anne M. Bandholz, Zöe Powis, Elizabeth Spiter, Mari Ross

Abstract Poster
POLD1 and POLE: An update on phenotype analysis

Oncology

Date:
Sunday, Oct 2, 2016 11:00am – 12:00pm

Conference:
CGA-IGC 2016

Authors:
Marcy Richardson, Felicia Hernandez, Shuwei Li, Carin Espenschied, AJ Stuenkel, Tina Pesaran, MA, MS, CGC, Robert Huether

Abstract Poster
Unknown synergistic effect of digenetic inheritance of MMR pathogenic mutations: Double heterozygosity in Lynch syndrome, a single case report & family study

Oncology

Date:
Sunday, Oct 2, 2016 11:00am – 12:00pm

Conference:
CGA-IGC 2016

Authors:
Amanda Jacquart, Morgan Depas, Rachel McFarland, Donald Basel

Abstract Poster
Phenotypes of patients with APC gene mutations identified via multi-gene cancer panel testing

Oncology

Date:
Sunday, Oct 2, 2016 11:00am – 12:00pm

Conference:
CGA-IGC 2016

Authors:
Tara Namey, Emily Dalton, Carin Espenschied, Amal Yussuf

Abstract Poster
Revisiting the role of CHEK2 mutations in hereditary breast-colorectal cancer probands

Oncology

Date:
Sunday, Oct 2, 2016 11:00am – 12:00pm

Conference:
CGA-IGC 2016

Authors:
Holly Laduca, Ora Gordon, Kimberly Childers, Rachel McFarland

Collaborators:

Providence Health

Abstract
Types and frequencies of Lynch syndrome mutations identified through multigene panel testing

Oncology

Date:
Sunday, Oct 2, 2016 11:00am – 12:00pm

Conference:
CGA-IGC 2016

Authors:
Carin Espenschied, Holly Laduca, Shuwei Li, Heather Hampel, Rachel McFarland, Chia-Ling Gau, PhD, DABMG

Poster Abstract
Types and frequencies of Lynch syndrome mutations identified through multigene panel testing

Oncology

Date:
Friday, Sep 30, 2016 11:30am – 12:45pm

Conference:
NSGC 2016

Authors:
Carin Espenschied, Holly Laduca, Shuwei Li, Heather Hampel, Rachel McFarland, Chia-Ling Gau, PhD, DABMG

Collaborators:

Ohio State University (OSU)

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High-throughput characterization of BRCA1 and BRCA2 splicing defects

Diagnostic exome sequencing identifies a novel homozygous alteration in DEAF1 further delineating the phenotypic spectrum

Reclassifying duplication variants in high-risk cancer genes by identifying tandem duplication breakpoints

Diagnostic yield for chromosome microarray analysis in patients with autistic features

POLD1 and POLE: An update on phenotype analysis

Unknown synergistic effect of digenetic inheritance of MMR pathogenic mutations: Double heterozygosity in Lynch syndrome, a single case report & family study

Phenotypes of patients with APC gene mutations identified via multi-gene cancer panel testing

Revisiting the role of CHEK2 mutations in hereditary breast-colorectal cancer probands

Types and frequencies of Lynch syndrome mutations identified through multigene panel testing

Types and frequencies of Lynch syndrome mutations identified through multigene panel testing

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