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A 10-year-old male with four genetic diagnoses and a complex multisystem presentation

Clinical Genomics
Clinician
Rare Disease

Date:
Friday, Mar 13, 2026 10:30am – 11:30am

Conference:
ACMG 2026

Authors:
Erica D Smith, Mahnoosh Rahimi, Paige E. Black, Rossana Sanchez, Wendy Alcaraz

Collaborators:

Emory Healthcare

Abstract Poster
Multiple-variant MEN1 haplotypes observed in multiple endocrine neoplasia type 1

General

Session:
#624

Date:
Friday, Mar 13, 2026 12:00am – 12:00am

Conference:
ACMG 2026

Authors:
Brittany Sears, Chase Beeman, Kelcy Smith‑Simmer, Laura Hudish, Raza Chaudhry, Terra Brannan

Collaborators:

Exact Sciences
Norton Children’s Cancer Institute
University of Wisconsin Health

Abstract Poster
Obesity among patients with chromosome 22q11 duplication syndrome

General

Date:
Friday, Mar 13, 2026 10:30am – 11:30am

Conference:
ACMG 2026

Authors:
Chaya N. Murali, Claudia R. Soler‑Alfonso, Farah A. Ladha, Haley Streff, Lorraine Potocki, Pilar Magoulas, Rachel Franciskovich, Stephanie Sisley

Collaborators:

Baylor College of Medicine
Cook Children's Hospital

Abstract Poster
Characterization of TMEM127-related tumor predisposition in a hereditary cancer cohort

Oncology

Date:
Thursday, Mar 12, 2026 10:30am – 11:30am

Conference:
ACMG 2026

Authors:
Brittany Sears, Colin Young, PhD, Jamie Weyandt, PhD, Jeni Herrera-Mullar, June Mikkelson, Victoria Ellis

Poster Abstract
Impact of structural biology assessment on variant interpretation and patient outcomes over ten years in a clinical diagnostic laboratory

General

Date:
Thursday, Mar 12, 2026 10:30am – 11:30am

Conference:
ACMG 2026

Authors:
Amanda Jacquart, Caitlin Reid, Holly Laduca, Matthew Varga, Rachel Jones

Poster Abstract
To fibroblast or not to fibroblast: Outcomes and clinical features of patients pursuing confirmatory germline testing following TP53‑positive results

Oncology

Date:
Thursday, Mar 12, 2026 10:30am – 11:30am

Conference:
ACMG 2026

Authors:
Athena Puski, Brooke Sample, Cassidy Carraway, Magan Trottier, Sarah Campian

Abstract Poster
Case report with biallelic variants in GCNT2 implicates exon 1B in congenital cataracts

Clinical Genomics
Rare Disease

Date:
Thursday, Mar 12, 2026 10:30am – 11:30am

Conference:
ACMG 2026

Authors:
Audrey O’Neill, Cindy Bayer, Dallas Reed, Emily McQuillen, Erica Smith, Meghan Towne

Poster Abstract
The other half of the story: High rates of unique parental secondary finding

Clinical Genomics

Date:
Thursday, Mar 12, 2026 10:30am – 11:30am

Conference:
ACMG 2026

Authors:
Brooklynn Gasser, Erica Smith, Grace E. VanNoy, Kelly Hagman, MS, CGC, LGC, Marcy Richardson, Skyler Pearse

Poster Abstract
Piloting the forthcoming ACMG/AMP/CAP/ClinGen standards for sequence variant classification

General
Research

Date:
Thursday, Mar 12, 2026 10:30am – 11:30am

Conference:
ACMG 2026

Authors:
Ahmad Abou Tayoun, Alicia B. Byrne, Anne O’Donnell-Luria, Ann M. Moyer, David Bick, Elizabeth C. Chao, Heidi L. Rehm, Izabela Karbassi, Jonathan S. Berg, Julie M. Gastier-Foster, Leslie G. Biesecker, Lisa M. Vincent, Neethu Shah, Nicola Whiffen, Sharon E. Plon, Steven M. Harrison

Collaborators:

Baylor College of Medicine
Boston Children's Hospital
Broad Institute of MIT and Harvard
Genomics England
Massachusetts General Hospital
Mayo Clinic
Natera
National Institutes of Health
Quest Diagnostics
University of California, Irvine
University of North Carolina at Chapel Hill

Poster Abstract
Heterogeneity of pancreatic cancer risk across germline susceptibility genes and sex

Oncology

Session:
#9

Date:
Thursday, Mar 5, 2026 12:30pm – 2:30pm

Conference:
InSiGHT 2026

Authors:
Adam Chamberlin, Cassidy Carraway, Danielle Braun, Enako Matsumoto, Fay Kastrinos, Giovanni Parmigiani, Joy A. Xu, Laufey T. Amundadottir, Linda M. Polfus, Rachid Karam, PhD

Collaborators:

Columbia University Irving Medical Center
Dana Farber Cancer Institute
Harvard University
National Cancer Institute

Abstract Poster

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A 10-year-old male with four genetic diagnoses and a complex multisystem presentation

Multiple-variant MEN1 haplotypes observed in multiple endocrine neoplasia type 1

Obesity among patients with chromosome 22q11 duplication syndrome

Characterization of TMEM127-related tumor predisposition in a hereditary cancer cohort

Impact of structural biology assessment on variant interpretation and patient outcomes over ten years in a clinical diagnostic laboratory

To fibroblast or not to fibroblast: Outcomes and clinical features of patients pursuing confirmatory germline testing following TP53‑positive results

Case report with biallelic variants in GCNT2 implicates exon 1B in congenital cataracts

The other half of the story: High rates of unique parental secondary finding

Piloting the forthcoming ACMG/AMP/CAP/ClinGen standards for sequence variant classification

Heterogeneity of pancreatic cancer risk across germline susceptibility genes and sex

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