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

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

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, Farah A. Ladha, Rachel Franciskovich, Haley Streff, Pilar Magoulas, Claudia R. Soler‑Alfonso, Lorraine Potocki, 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:
Victoria Ellis, June Mikkelson, Jeni Herrera-Mullar, Jamie Weyandt, PhD, Colin Young, PhD, Brittany Sears

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

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

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

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

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:
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

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

Collaborators:

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

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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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