American College of Medical Genetics and Genomics
Ambry Genetics is an exhibitor and sponsor at the 2026 ACMG Annual Meeting. We invite you to visit our booth to learn more about Ambry's updated Exome Testing and Patient for Life and meet our experts in the booth (more info coming soon).
Booth #517 One West Pratt Street, Baltimore, MD 21201 US
Thursday, March 12: 3:00 - 4:00pm
Carrie Horton, MS: In her role as a Clinical Strategy Manager for Research and Collaborations, Carrie works to aligning our research strategies with unmet clinical needs and to ensure that our findings are amplified to reach the right audience. In particular, Carrie is interested in exploring proactive steps labs can take to promote genomic test equity and improve access for all patient populations.
Stephany Tandy, MS: Stephany is a Principal Clinical Genomic Scientist leading Ambry’s Patient for Life program. The Patient for Life team continuously reviews previously tested patients for any updated information that could impact results and patient care. Come meet Stephany to learn more about how Ambry’s exciting Patient for Life program will benefit your patients for the rest of their lives.
Matthew Schultz, PhD: As Director of Bioinformatics, Matthew Schultz, PhD, focuses on developing computational and statistical methods that transform large-scale genomic data into meaningful clinical insights. He is particularly dedicated to leveraging pangenomes to address the technical challenges of genomic equity, working to build robust bioinformatics solutions that overcome bias and ensure accurate, actionable results for all patient populations.
Saturday, March 14: 8:00 - 9:30am
Matthew Schultz, PhD: As Director of Bioinformatics, Matthew Schultz, PhD, focuses on developing computational and statistical methods that transform large-scale genomic data into meaningful clinical insights. He is particularly dedicated to leveraging pangenomes to address the technical challenges of genomic equity, working to build robust bioinformatics solutions that overcome bias and ensure accurate, actionable results for all patient populations.
Poster # P593
Thursday, March 12, 2026 10:30 - 11:30am
Leslie G. Biesecker, Heidi L. Rehm, Ahmad Abou Tayoun, Jonathan S. Berg, David Bick, Alicia B. Byrne, Elizabeth C. Chao, Julie M. Gastier-Foster, Izabela Karbassi, Ann M. Moyer, Anne O'Donnell-Luria, Sharon E. Plon, Neethu Shah, Lisa M. Vincent, Nicola Whiffen, Steven M. Harrison. Piloting the forthcoming ACMG/AMP/CAP/ClinGen standards for sequence variant classification.
Poster # P295
Thursday, March 12, 2026 10:30 - 11:30am
Audrey O’Neill, Cindy Bayer, Emily McQuillen, Erica Smith, Meghan Towne, Dallas Reed. Case report with biallelic variants in GCNT2 implicates exon 1B in congenital cataracts.
Poster # P073
Thursday, March 12, 2026 10:30 - 11:30am
Victoria Ellis, June Mikkelson, Jeni Herrera-Mullar, Jamie Weyandt, Colin Young, Brittany Sears. Characterization of TMEM127-related tumor predisposition in a hereditary cancer cohort.
Poster # P109
Thursday, March 12, 2026 10:30 - 11:30am
Rachel Jones, Caitlin Reid, Holly LaDuca, Amanda Jacquart, Matthew Varga. Impact of structural biology assessment on variant interpretation and patient outcomes over ten years in a clinical diagnostic laboratory.
Poster # P547
Thursday, March 12, 2026 10:30 - 11:30am
Brooklynn Gasser, Skyler Pearse, Erica Smith, Marcy Richardson, Grace E. VanNoy, Kelly Hagman. The other half of the story: High rates of unique parental secondary finding.
Poster # P075
Thursday, March 12, 2026 10:30 - 11:30am
Sarah Campian, Athena Puski, Cassidy Carraway, Magan Trottier, Brooke Sample. To fibroblast or not to fibroblast: Outcomes and clinical features of patients pursuing confirmatory germline testing following TP53‑positive results.
Poster # P416
Friday, March 13, 2026 10:30 - 11:30am
Paige E. Black, Mahnoosh Rahimi, Erica D. Smith, Wendy Alcaraz, Rossana Sanchez. A 10-year-old male with four genetic diagnoses and a complex multisystem presentation.
Poster # P548
Friday, March 13, 2026 10:30 - 11:30am
Stuti Joshi, Kenny Chen, Tiantian Geier, Erica Smith, Sami Belhadj, John Harting, Yun-Hua Hsiao, Bojan Losic, Seth Berger, Rachid Karam, David Brohawn, Emmanuele C. Delot. HiFi long‑read WGS: sequencing performance of buccal and saliva samples and estimation of non‑human DNA contamination from unaligned HiFi reads.
Poster # P624
Friday, March 13, 2026 10:30 - 11:30am
Laura Hudish, Terra Brannan, Chase Beeman, Raza Chaudhry, Kelcy Smith‑Simmer, Brittany Sears. Multiple-variant MEN1 haplotypes observed in multiple endocrine neoplasia type 1.
Poster # P576
Friday, March 13, 2026 10:30 - 11:30am
Victoria Ellis, Stephany Tandy, Erica D Smith, Wendy Alcaraz. Never stop looking: Dual diagnoses due to updated gene–disease relationships in exome patients.
Poster # P268
Friday, March 13, 2026 10:30 - 11:30am
Chaya N. Murali, Farah A. Ladha, Rachel Franciskovich, Haley Streff, Pilar Magoulas, Claudia R. Soler‑Alfonso, Lorraine Potocki, Stephanie Sisley. Obesity among patients with chromosome 22q11 duplication syndrome.
Poster # P552
Friday, March 13, 2026 10:30 - 11:30am
Ermanno Florio, Julian Stone-Farhat, Matthew Schultz, Ali Alhafidh, David Brohawn, Marcus Mahar. Use of Pangenome reference improves variant calling in clinical genome sequencing.
Session # O50
Thursday, March 12, 2026 12:00 - 1:00pm
Shoji Ichikawa, Timothy Komala, Meghan C. Towne. Fractional clues: Decoding NF1 variant pathogenicity through low VAF
Session # Exhibit Theater 2
Friday, March 13, 2026 11:20 - 11:50am
Carrie Horton, MS, CGC, Ambry Genetics, Altovise Ewing-Crawford, PhD, LCGC, Genentech, Seth Berger, MD, PhD, Ambry Genetics. Laboratory-led initiatives to improve equity in genomic testing