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Over-representation of PMS2CL pseudogene interference in PMS2 testing in a non-European cohort

Oncology

Date:
Friday, Mar 21, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Caitlin Reid, Timothy Komala, Marcy E. Richardson, Emily Maxwell, Ayanna Boyce, Ashley P.L. Marsh, Kevin Beezhold, Katie Lang, Colby L. Chase

Poster Abstract
Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel

General

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Rachel Shapira, Beatrice Mónica Bowen, Yevgeniya Gartshteyn, Yuke He, Megan Johnson, Ingrid M. Keseler, Nasim Monfared, Andrra Nimoni, Clarissa J. Klein, Ivona Aksentijevich, Steven Mack, Louis Bridges, Jr, Teri E. Klein, Ruth Fernandez Ruiz, George C. Tsokos

Collaborators:

Beth Israel Deaconess Medical Center
Columbia University Irving Medical Center
National Human Genome Research Institute
Stanford
University of California, San Francisco
Wake Forest School of Medicine

Abstract Poster
RNA analysis and long read sequencing identify causative APC complex rearrangement in unsolved FAP case

Oncology

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Marcy E. Richardson, Rachid Karam, PhD, Victoria Ellis, Abbey Jamison, Colin Young, PhD, Sami Belhadj

Abstract Poster
Beyond NGS: Detailed analysis of Sanger, MLPA and RNA confirms tuberous sclerosis complex in clinically diagnosed patients

Oncology

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Marcy E. Richardson, Sara M. Berger, Jamie Weyandt, PhD, Jose Andres Morales, Catherine Mayo

Collaborators:

Columbia University

Poster Abstract
BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes

Clinician
General

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Matthew P. Johnson, Ashley P.L. Marsh, Laura I. Hudish, Marcy E. Richardson, Steven M. Harrison

Abstract Poster
The impact of discrepant payor policies from one lab benefits manager on patient access to genetic testing

Clinician
General

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Greg Nogle, Timothy Komala, Amal Yussuf, Robert Pilarski, Marissa Russell, Lily Hoang

Abstract Poster
Enhancing Patient Care: A Digital Approach Improves Universal Breast Cancer Risk Stratification in Imaging Centers

Oncology

Date:
Wednesday, Dec 11, 2024 12:00pm – 2:00pm

Conference:
SABCS 2024

Authors:
Jenna Cooke, Hartford Healthcare; Heather Fecteau, Ambry Genetics

Abstract Poster
MSH2 variant causing atypical CMMRD and atypical LS

General

Date:
Thursday, Nov 14, 2024 6:00pm – 7:00pm

Conference:
CGA-ICG 2024

Authors:
Melyssa Aronson, Angela L. Jacobson, Brian H. Shirts, Andree MacMillan, Kathleen Buckley, Ashley P.L. Marsh, Lauren Currie, Allison Rusnak, Stephanie Wagler, Uri Tabori

Collaborators:

Children's Hospital of Eastern Ontario Research Institute
GeneDx
The Hospital for Sick Children, The University of Toronto
Paired DNA/RNA genetic testing to uncover a cryptic PTEN pathogenic variant (PV) associated with diffuse colonic ganglioneuromatosis

Oncology

Date:
Thursday, Nov 14, 2024 6:00pm – 7:00pm

Conference:
CGA-ICG 2024

Authors:
Marcy E. Richardson, Dong Kim, Michelle McSweeny, Demitrios Dedousis, Yana Chertock, Michael J. Hall

Abstract Poster
Don’t MISS the mark: Rare missense variants in APC associated with polyposis phenotypes

Oncology

Date:
Thursday, Nov 14, 2024 6:00pm – 7:00pm

Conference:
CGA-ICG 2024

Authors:
Marcy Richardson, Jamie D. Weyandt, Colin Young, PhD, Matthew Varga, Christen Csuy, June Mikkelson, Elizabeth Popkowski, Carolyn Horton

Abstract Poster

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Over-representation of PMS2CL pseudogene interference in PMS2 testing in a non-European cohort

Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel

RNA analysis and long read sequencing identify causative APC complex rearrangement in unsolved FAP case

Beyond NGS: Detailed analysis of Sanger, MLPA and RNA confirms tuberous sclerosis complex in clinically diagnosed patients

BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes

The impact of discrepant payor policies from one lab benefits manager on patient access to genetic testing

Enhancing Patient Care: A Digital Approach Improves Universal Breast Cancer Risk Stratification in Imaging Centers

MSH2 variant causing atypical CMMRD and atypical LS

Paired DNA/RNA genetic testing to uncover a cryptic PTEN pathogenic variant (PV) associated with diffuse colonic ganglioneuromatosis

Don’t MISS the mark: Rare missense variants in APC associated with polyposis phenotypes

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