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Uniparental disomy mysteries: How chromosomal microarray and exome sequencing can provide UPD clues that influence the diagnostic odyssey

Clinical Genomics
Neurology

Session:
#8027

Date:
Wednesday, Oct 15, 2025 2:30pm – 4:30pm

Conference:
ASHG 2025

Authors:
Erica Smith, Lana Sheta, Andrew Giles, Abigail Kosmin, Ginger Tsai

Abstract Poster
Don’t judge a variant by its position: +2T>C and the splicing surprise

General

Session:
#5009

Date:
Wednesday, Oct 15, 2025 2:30pm – 4:30pm

Conference:
ASHG 2025

Authors:
Heather Zimmermann, Shoji Ichikawa

Abstract Poster
Cancer Prevalence in MSH3 Heterozygotes

Oncology

Date:
Friday, Oct 10, 2025 5:00pm – 6:00pm

Conference:
CGA-IGC 2025

Authors:
Cassidy Carraway, Jennifer Herrera-Mullar, Kevin Beezhold

Abstract Poster
Laboratory-driven exome reanalysis increases diagnostic yield and decreases burden on clinicians

Clinical Genomics

Session:
#227

Date:
Thursday, Oct 9, 2025 12:30pm – 1:45pm

Conference:
CNS 2025

Authors:
Meghan Towne, Melissa Holman, Catherine Schultz, Jessica Gage, Carolyn Horton, Brooklynn Gasser, Grace VanNoy

Abstract Poster
RNA and reclassification: Assessing RNA data in rare disease

Clinical Genomics
Neurology

Session:
#233

Date:
Thursday, Oct 9, 2025 12:30pm – 1:45pm

Conference:
CNS 2025

Authors:
Catherine Schultz, Jessica Gage, Jessica Grzybowski, Melissa Holman, Carrie Horton, Marcy E. Richardson, Heather Zimmermann, Grace VanNoy, Shoji Ichikawa, Emily Kudalkar, Jesus Ramirez Castano, Brooklynn Gasser, Kevin Lam, Melissa Samons

Poster Abstract
An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

Oncology

Date:
Thursday, Oct 9, 2025 6:00pm – 7:00pm

Conference:
CGA-IGC 2025

Authors:
Marcy E. Richardson, Carrie Horton, Taylor D. Coleman, Magan Trottier, Linda Polfus, Leah Zaretsky, Maggie Feng, Aimee Lucas

Collaborators:

Icahn School of Medicine at Mount Sinai
WCG Clinical Inc.

Abstract
What comes first, the exome or the array? A comparative study of results from chromosomal microarrays and exome sequencing

Clinical Genomics

Session:
#63

Date:
Sunday, Sep 21, 2025 8:00am – 9:00am

Conference:
SDBP 2025

Authors:
Marcy E. Richardson, Nida Karra, Grace E. VanNoy, Carolyn Horton, Meghan C. Towne

Poster Abstract
What comes first, the exome or the array? A comparative study of results from chromosomal microarrays and exome sequencing

Clinical Genomics

Date:
Saturday, Sep 20, 2025 10:00am – 8:30pm

Conference:
SDBP 2025

Authors:
Nida Karra
HiFi long-read wgs: Sequencing performance of buccal/saliva samples and estimation of non-human DNA contamination from unaligned HiFi reads

General
Research

Date:
Thursday, Sep 11, 2025 12:00pm – 1:00pm

Conference:
GREGoR Annual Meeting 2026

Authors:
Erica Smith, Rachid Karam, PhD, Stuti Joshi, Kenny Chen, Tiantian Geier, Sami Belhadj, Emmanuèle Délot, Seth Berger, Eric Vilain

Collaborators:

University of California, Irvine

Poster
Development of population frequency thresholds specific for rare neurodevelopmental disorders

Neurology

Date:
Thursday, Jun 12, 2025 6:10pm – 7:10pm

Conference:
CCG 2025

Authors:
Steven Harrison, Wendy Alcaraz, Dana Burow, Katie Yergert, Claire Watson, Melissa Samons, Matthew Johnson, Laura Hudish, Audrey O’Neill

Abstract Poster

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Uniparental disomy mysteries: How chromosomal microarray and exome sequencing can provide UPD clues that influence the diagnostic odyssey

Don’t judge a variant by its position: +2T>C and the splicing surprise

Cancer Prevalence in MSH3 Heterozygotes

Laboratory-driven exome reanalysis increases diagnostic yield and decreases burden on clinicians

RNA and reclassification: Assessing RNA data in rare disease

An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

What comes first, the exome or the array? A comparative study of results from chromosomal microarrays and exome sequencing

What comes first, the exome or the array? A comparative study of results from chromosomal microarrays and exome sequencing

HiFi long-read wgs: Sequencing performance of buccal/saliva samples and estimation of non-human DNA contamination from unaligned HiFi reads

Development of population frequency thresholds specific for rare neurodevelopmental disorders

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