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Identification of de novo variants from parent-proband duos via long-read sequencing

Clinical Genomics

Speakers:
L. Boukas, E. C. Du00e9lot, G. Pitsava, C. Lambert, C. Fanslow, P. Baybayan, S. Belhadj, B. Losic, J. Harting, K. Bluske, J. LoTempio, H. B. Al-Kouatly, R. Karam, W. J. Rowell, C. Xiao, E. Vilain, S. I. Berger

Conference:
ASHG 2025

Thursday, Oct 16, 2025 11:00am – 11:15am

Collaborators:

Boston Children's Hospital
George Washington University
Thomas Jefferson University
University of California, Irvine

Abstract
Cancer-specific risks associated with germline PALB2 pathogenic variants from a large clinical genetic testing cohort

Oncology

Speakers:
Yen Y. Tan, Chunling Hu, Huaizhi Huang, Nicholas Boddicker, Wenan Chen, Medha Kaul, Tara Rao, Alvaro N.A. Monteiro, Tina Pesaran, Rachid Karam, Susan M. Domchek, Siddhartha Yadav, Marcy E. Richardson, Fergus J. Couch

Conference:
SABCS 2025

Sunday, Oct 12, 2025 12:30pm – 1:30pm

Collaborators:

Institute of Medical Genetics, Medical University of Vienna
Mayo Clinic
Moffitt Cancer Center
University of Pennsylvania

Abstract
Beyond familial adenomatous polyposis: using genotype-phenotype correlations to discern germline versus somatic status for APC whole gene deletions among 860,000 tests

Oncology

Speakers:
Katherine L. Belshe, Jordyn Koehn, Alisdair Philp, Bryson Katona, Stephen Hyter, Rashna Madan, Barry Skikne, Abdulraheem Yacoub, Andrew K. Godwin, Marcy E. Richardson, Cassidy Carraway, Jeffrey N. Weitzel, Ajay Bansal

Conference:
CGA-IGC 2025

Saturday, Oct 11, 2025 1:30pm – 3:00pm

Collaborators:

Perelman School of Medicine at the University of Pennsylvania
University of Kansas Cancer Center

Abstract
Analysis of missense variants in RPS20 and an association with colorectal cancer predisposition

Oncology

Speakers:
Jennifer Herrera-Mullar, Cassidy Carraway, Ashley PL Marsh, Zahra Heidari, Rachel Jones, Felicia Hernandez, Emily Kudalkar, Marcy E. Richardson

Conference:
CGA-IGC 2025

Thursday, Oct 9, 2025 1:30pm – 3:00pm

Abstract
Structural and functional components of variant assessment in hereditary breast and ovarian cancer susceptibility

Speakers:
Marcy Richardson, PhD, Director of Clinical Research

Conference:
BRCA 2025

Wednesday, May 7, 2025 8:00am – 8:45am
Functional validation and clinical classification of all missense variants characterized by saturation genome editing of RAD51C

Clinician

Speakers:
Chunling Hu, Fergus J. Couch, Mohamed Abozaid, Nicholas J. Boddicker, Jie Na, Tao Ma, Medha Kaul, Tara Rao, Rachid Karam, Tina Pesaran, Marcy E. Richardson, Siddhartha Yadav, Wenan Chen

Conference:
BRCA 2025

Tuesday, May 6, 2025 11:15am – 11:25am

Collaborators:

Mayo Clinic

Abstract
Maximizing Clinical Utility of Exomes: Greater Than The Sum Of Its Parts

Clinical Genomics

Speakers:
Steven M. Harrison, PhD, FACMG

Conference:
ACMG 2025

Thursday, Mar 20, 2025 11:55am – 12:25pm
Impact of RNA sequencing on variant classification: Experience at a high-volume cancer genetics center

General

Speakers:
Sydney Rudowski, Alexis Gallant, Ashley Reeves, Ana Stupar, Sarah Campian, Dana Zakalik

Conference:
CGA-ICG 2024

Saturday, Nov 16, 2024 1:45pm – 3:15pm

Abstract
Gastric and lobular breast cancer prevalence in CTNNA1 heterozygotes identified via multigene panel testing

Oncology

Speakers:
Jennifer Herrera-Mullar, Carolyn Horton, John Ranola, Cassidy Carraway, Linda Polfus, Marcy E. Richardson, Rachid Karam

Conference:
CGA-ICG 2024

Thursday, Nov 14, 2024 1:45pm – 5:15pm

Abstract
Finding more answers with genetic testing: Maximizing the diagnostic yield of exome sequencing

Clinical Genomics

Speakers:
Elizabeth C. Chao, Erica Schindewolf

Conference:
CNS 2024

Wednesday, Nov 13, 2024 11:30am – 12:30pm

Collaborators:

Children's Hospital of Philadelphia

…

Scientific Presentations

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Identification of de novo variants from parent-proband duos via long-read sequencing

Cancer-specific risks associated with germline PALB2 pathogenic variants from a large clinical genetic testing cohort

Beyond familial adenomatous polyposis: using genotype-phenotype correlations to discern germline versus somatic status for APC whole gene deletions among 860,000 tests

Analysis of missense variants in RPS20 and an association with colorectal cancer predisposition

Structural and functional components of variant assessment in hereditary breast and ovarian cancer susceptibility

Functional validation and clinical classification of all missense variants characterized by saturation genome editing of RAD51C

Maximizing Clinical Utility of Exomes: Greater Than The Sum Of Its Parts

Impact of RNA sequencing on variant classification: Experience at a high-volume cancer genetics center

Gastric and lobular breast cancer prevalence in CTNNA1 heterozygotes identified via multigene panel testing

Finding more answers with genetic testing: Maximizing the diagnostic yield of exome sequencing

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