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Evaluating Secondary Findings in Prenatal Exome Sequencing: A Study of Uptake and Yield for ACMG and Childhood Onset Disorder Results

Date:
Wednesday, Oct 21, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Kayleigh Avello, PhD
Deploying Long-Read Sequencing to Bridge Diagnostic and Equity Gaps in Rare Disease

Date:
Wednesday, Oct 21, 2026 1:35pm – 1:38pm

Conference:
ASHG 2026

Authors:
Emmanuele Delot (UC Irvine)
Phenotype expansion of the ERF Gene

Session:
#287

Date:
Thursday, Oct 15, 2026 5:30pm – 7:00pm

Conference:
CNS 2026

Authors:
Ambry Genetics, Connolly Steigerwald
Size and breakpoint matter: clinical heterogeneity in males with terminal MECP2 duplications

Session:
#232

Date:
Thursday, Oct 15, 2026 12:30pm – 1:45pm

Conference:
CNS 2026

Authors:
Davut Pehlivan, Ambry Genetics
Germline testing in Asian American and Pacific Islander women with breast cancer

Oncology

Date:
Monday, Jun 1, 2026 1:30pm – 4:30pm

Conference:
ASCO 2026

Authors:
Jennifer Tseng, John Michael O Ranola, Kristin Kohler, Magan Trottier

Collaborators:

City of Hope

Abstract Poster
Actionable germline findings in endometrial cancer from a large multigene panel tested cohort

Oncology

Session:
#572

Date:
Monday, Jun 1, 2026 1:30pm – 4:30pm

Conference:
ASCO 2026

Authors:
Adela Rodriguez-Hernandez, Brittany L. Bychkovsky, Carolyn Horton, Huma Rana, Jessica D. St. Laurent, Judy E. Garber, Linda M. Polfus, Magan Trottier, Miki Horiguchi

Collaborators:

Dana Farber Cancer Institute
Harvard Medical School
Massachusetts General Hospital

Abstract Poster
Germline Pathogenic/Likely Pathogenic (P/LP) Variants in Epithelial Neuroendocrine Neoplasms: The Case for Universal Germline Genetic Testing

Oncology

Session:
#165

Date:
Saturday, May 30, 2026 9:00am – 12:00pm

Conference:
ASCO 2026

Authors:
Andrew Bellizzi, Brittany Sears, Cassidy Carraway, Chandrikha Chandrasekharan, Daniel M. Halperin, Jennifer A. Chan, Matthew Gao, Olatunji B. Alese, Po HEar, Renuka Iyer, Seth Jason Concors, Simron Singh, Udhayvir Singh Grewal

Collaborators:

Dana Farber Cancer Institute
Emory University
Harvard Medical School
Roswell Park Comprehensive Cancer Center
The University of Texas MD Anderson Cancer Center
University of Iowa
University of Toronto

Abstract
Clinical impact of integrating BRCA2 MAVE data for variant reclassification: A real‑world evaluation

Oncology

Session:
#96

Date:
Tuesday, May 26, 2026 12:00am – 12:00am

Conference:
MSS 2026

Authors:
Kristin Kohler, Ashley P.L. Marsh, Colin Young, PhD, Jamie Weyandt, PhD, Sarah Dugger, Daniel Zimmerman, Magan Trottier, Steven Harrison, Marcy E. Richardson

Abstract Poster
Germline Pathogenic Variants in Individuals with Renal Cell Carcinoma

Oncology

Session:
#IP71-05

Date:
Sunday, May 17, 2026 3:30pm – 5:30pm

Conference:
AUA 2026

Authors:
Carolyn Horton, Cassidy Carraway, Huma Rana, Magan Trottier, Michael Serzan, Miki Horiguchi

Collaborators:

Dana Farber Cancer Institute

Abstract Poster
Candidate eQTL detection for risk refinement using paired DNA-RNA panel data

General

Session:
#PO.PR01.02

Date:
Tuesday, Apr 21, 2026 9:00am – 12:00pm

Conference:
AACR 2026

Authors:
Adam Chamberlin, Bojan Losic, David Burks, Donavan Cheng, Esther Hsiao, Hoda Mirsafian, John Watterson, Linda M. Polfus, Matthew Schultz, Tina Pesaran, MA, MS, CGC

Abstract Poster

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Evaluating Secondary Findings in Prenatal Exome Sequencing: A Study of Uptake and Yield for ACMG and Childhood Onset Disorder Results

Deploying Long-Read Sequencing to Bridge Diagnostic and Equity Gaps in Rare Disease

Phenotype expansion of the ERF Gene

Size and breakpoint matter: clinical heterogeneity in males with terminal MECP2 duplications

Germline testing in Asian American and Pacific Islander women with breast cancer

Actionable germline findings in endometrial cancer from a large multigene panel tested cohort

Germline Pathogenic/Likely Pathogenic (P/LP) Variants in Epithelial Neuroendocrine Neoplasms: The Case for Universal Germline Genetic Testing

Clinical impact of integrating BRCA2 MAVE data for variant reclassification: A real‑world evaluation

Germline Pathogenic Variants in Individuals with Renal Cell Carcinoma

Candidate eQTL detection for risk refinement using paired DNA-RNA panel data

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