American College of Medical Genetics and Genomics
Ambry Genetics is a pround sponsor of the 2025 ACMG Annual Meeting. We invite you to visit us at booth 501 to learn more about Ambry's new Exome Testing and Patient for Life and meet our experts in the booth.
Check out our posters and presentations!
Booth #501 1201 S. Figueroa Street, Los Angeles, CA 90015 US
Meet Ambry Scientific Experts at ACMG! We'll be at the booth #501. Stop by or register using the link below.
Poster # P445
Thursday, March 20, 2025 10:30 - 11:30am Abstract Poster Video
Sara M. Berger, Jamie Weyandt, Marcy E. Richardson, Jose Andres Morales, Catherine Mayo. Beyond NGS: Detailed analysis of Sanger, MLPA and RNA confirms tuberous sclerosis complex in clinically diagnosed patients.
Poster # P749
Thursday, March 20, 2025 10:30 - 11:30am Abstract Poster Video
Matthew P. Johnson, Ashley P.L. Marsh, Laura I. Hudish, Marcy E. Richardson, Steven M. Harrison. BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes.
Poster # P157
Thursday, March 20, 2025 10:30 - 11:30am Abstract Poster
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. Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel.
Poster # P673
Thursday, March 20, 2025 10:30 - 11:30am Abstract Poster Video
Victoria Ellis, Abbey Jamison, Colin Young, Marcy E. Richardson, Rachid Karam, Sami Belhadj. RNA analysis and long read sequencing identify causative APC complex rearrangement in unsolved FAP case.
Poster # P127
Thursday, March 20, 2025 10:30 - 11:30am Abstract Poster Video
Marissa Russell, Greg Nogle, Timothy Komala, Lily Hoang, Amal Yussuf, Robert Pilarski. The impact of discrepant payor policies from one lab benefits manager on patient access to genetic testing.
Poster # P098
Friday, March 21, 2025 10:30 - 11:30am Abstract Poster Video
Ashley P.L. Marsh, Jennifer Herrera-Mullar, Cassidy Carraway, Cynthia Martinez, Felicia Hernandez, Emily Kudalkar, Marcy E. Richardson. Characterization of RPS20-related colorectal cancer predisposition: A case series from a multigene panel testing cohort.
Poster # P168
Friday, March 21, 2025 10:30 - 11:30am Abstract Poster Video
Grace E. VanNoy, Brooklynn Gasser, Robert Pilarski, John Ranola, Meghan C. Towne. Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study.
Poster # P114
Friday, March 21, 2025 10:30 - 11:30am Abstract Poster Video
Emily Maxwell, Ayanna Boyce, Caitlin Reid, Ashley P.L. Marsh, Kevin Beezhold, Timothy Komala, Katie Lang, Marcy E. Richardson, Colby L. Chase. Over-representation of PMS2CL pseudogene interference in PMS2 testing in a non-European cohort.
Poster # P290
Friday, March 21, 2025 10:30 - 11:30am Abstract Poster Video
Grace VanNoy, Jessica Gage, Jessica Grzybowski, Shoji Ichikawa, Emily Kudalkar, Catherine Schultz, Jesus Ramirez Castano, Brooklynn Gasser, Melissa Holman, Carrie Horton, Kevin Lam, Melissa Samons, Marcy E. Richardson, Heather Zimmermann. RNA and reclassification: Assessing RNA data in rare disease.
Session # Exhibit theater presentation, #1
Thursday, March 20, 2025 11:55 - 12:25pm
Steven M. Harrison, PhD, FACMG. Maximizing Clinical Utility of Exomes: Greater Than The Sum Of Its Parts