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Uncovering the Complete Picture: Transforming Rare Disease

Session:
#Room 327-329

Speakers:
TJ Slavin, MD, Tempus

Conference:
NSGC 2026

Thursday, Nov 12, 2026 12:15pm – 1:30pm
L1 Insertion Variants in the MLH1 Gene

Speakers:
Hannah Campbell, Michelle McSweeny, Marcy E Richardson, Ed Anderson, Dylane Wineland, Marie Droual, Austin Eastmure, Michael J Hall, Department of Clinical Genetics, Fox Chase Cancer Center, Ambry Genetics

Conference:
CGA-IGC

Tuesday, Nov 3, 2026 6:00pm – 7:00pm
Not All EPCAM Deletions Are Equal: Deletion Subtype and MSH2 Involvement Determine Cancer Risk in EPCAM-Associated Lynch Syndrome

Session:
#Meeting Hall

Speakers:
Kristin Kohler, Felicia Hernandez, Ashley P.L. Marsh, Carolyn Horton, John Michael Ranola, Michael J. Hall, Heather Hampel

Conference:
CGA-IGC

Monday, Nov 2, 2026 1:30pm – 3:00pm
Haploinsufficiency of RNPS1, a component of the exon junction complex, causes a syndromic neurodevelopmental disorder with skeletal anomalies

Speakers:
Daniel Calame (Baylor University)

Conference:
ASHG 2026

Friday, Oct 23, 2026 2:00pm – 2:15pm
HiFi Long Read Genome Sequencing After Negative Clinical Exome Sequencing In a Consecutive Cohort Increases Diagnostic Yields

Speakers:
Sara Kalla (Ambry)

Conference:
ASHG 2026

Thursday, Oct 22, 2026 2:00pm – 2:15pm

Abstract
The ICTS Dashboard: The GREGoR Data Model as an Operational Framework for Translational Genomics Workflows

Speakers:
Eric Vilain (UC Irvine)

Conference:
ASHG 2026

Thursday, Oct 22, 2026 2:00pm – 2:15pm

Abstract
A Clinical Genome Built with Intention

Session:
#Room 519 a-b

Speakers:
David Bearden, MD, University of Rochester

Conference:
CNS 2026

Friday, Oct 16, 2026 4:30pm – 6:00pm
Symposium Lunch Talk

Ambry CARE Program

Speakers:
Stephanie Spaulding

Conference:
NCoBC 2026

Monday, Mar 30, 2026 12:30pm – 1:30pm
MAVE progress report, how Ambry Genetics validates and deploys high-throughput functional assays

General
Research

Session:
#98

Speakers:
Daniel Zimmerman, Sarah Dugger, Ashley Marsh, Dean Hoffer, Ana Silverstein, John Ranola, Heather Zimmermann, Sean Korpela, Marcy Richardson, Katie Yergert, Tina Pesaran

Conference:
MSS 2026

Thursday, Mar 26, 2026 12:45pm – 1:00pm
Clinical utility of Multiplexed Assays of Variant Effects (MAVEs) in a pediatric cohort

General

Session:
#97

Speakers:
Melissa A. Gilbert, Monica Bowen, Tristan J. Hayek, Marcy E. Richardson, Laura Conlin, Ramakrishnan Rajagopalan, Erica Smith, Ashley Marsh, Jill Murrell, Nancy B. Spinner

Conference:
MSS 2026

Wednesday, Mar 25, 2026 2:15pm – 2:30pm

Collaborators:

Children's Hospital of Philadelphia
Perelman School of Medicine at the University of Pennsylvania

…

Scientific Presentations

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Uncovering the Complete Picture: Transforming Rare Disease

L1 Insertion Variants in the MLH1 Gene

Not All EPCAM Deletions Are Equal: Deletion Subtype and MSH2 Involvement Determine Cancer Risk in EPCAM-Associated Lynch Syndrome

Haploinsufficiency of RNPS1, a component of the exon junction complex, causes a syndromic neurodevelopmental disorder with skeletal anomalies

HiFi Long Read Genome Sequencing After Negative Clinical Exome Sequencing In a Consecutive Cohort Increases Diagnostic Yields

The ICTS Dashboard: The GREGoR Data Model as an Operational Framework for Translational Genomics Workflows

A Clinical Genome Built with Intention

Symposium Lunch Talk

MAVE progress report, how Ambry Genetics validates and deploys high-throughput functional assays

Clinical utility of Multiplexed Assays of Variant Effects (MAVEs) in a pediatric cohort

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