Presentations Archive

Conference

Speakers

Collaborators

Clear

Showing 10 of 150 Results

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
Clinical translation of a MUTYH MAVE into a diagnostic laboratory workflow enables largescale VUS resolution

General

Session:
#99

Speakers:
Ashley P.L. Marsh, Shelby L. Hemker, Kristin Kohler, Daniel Zimmerman, Felicia P. Hernandez, Jacob O. Kitzman, Marcy E. Richardson

Conference:
MSS 2026

Wednesday, Mar 25, 2026 4:30pm – 4:45pm

Collaborators:

University of Michigan Medical School
Laboratory-led initiatives to improve equity in genomic testing

Clinical Genomics

Speakers:
Carrie Horton, MS, CGC, Ambry Genetics, Altovise Ewing-Crawford, PhD, LCGC, Genentech, Seth Berger, MD, PhD, Ambry Genetics

Conference:
ACMG 2026

Friday, Mar 13, 2026 11:20am – 11:50am
Fractional clues: Decoding NF1 variant pathogenicity through low VAF

General
Research

Speakers:
Shoji Ichikawa, Timothy Komala, Meghan C. Towne

Conference:
ACMG 2026

Thursday, Mar 12, 2026 12:00pm – 1:00pm

Abstract

…

Scientific Presentations

Filter By

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

Clinical translation of a MUTYH MAVE into a diagnostic laboratory workflow enables largescale VUS resolution

Laboratory-led initiatives to improve equity in genomic testing

Fractional clues: Decoding NF1 variant pathogenicity through low VAF

Patients

PROVIDERS

Solutions

Resources

Company

NOTICES

Scientific Presentations

Filter By

Get in Touch