Clinical Genomics Archives

Poster

Session:

#4069

Date:

Friday, Oct 17, 2025 2:30pm – 4:30pm

Conference:

ASHG 2025

Authors:

Erica Smith, Rachid Karam, PhD, Greta Pitsava, Krista Bluske, Ivan De Dios, Rebekah Barrick, Sami Belhadj, Miguel Almalvez, Arthur Ko, Lightning Auriga, Changrui Xiao, Emmanuèle C. Délot, Seth Berger, Eric Vilain

Collaborators:

Children's National Research Institute

University of California, Irvine

Poster Abstract

Poster

The limits of Mendelian assumptions in genomic diagnostics: Evidence from longread whole genome sequencing and exome analysis

Clinical Genomics

Session:

#7031

Date:

Thursday, Oct 16, 2025 2:30pm – 4:30pm

Conference:

ASHG 2025

Authors:

Kirsten Blanco, Elizabeth Chao, Kelly Radtke, Rachid Karam, PhD, Erica D Smith, Greta Pitsava, Krista Bluske, Changrui Xiao, Rebekah Barrick, Ivan De Dios, Eric Vilain, Emmanuèle C. Délot, Seth Berger

Collaborators:

Children's Hospital of Orange County, CA (CHOC)

University of California, Irvine

Abstract Poster

Poster

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

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

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

Poster

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

Poster

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

Poster

Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study

Clinical Genomics

Date:

Friday, Mar 21, 2025 10:30am – 11:30am

Conference:

ACMG 2025

Authors:

Robert Pilarski, Grace E. VanNoy, Brooklynn Gasser, John Ranola, Meghan C. Towne

Abstract Poster

Poster

RNA and reclassification: Assessing RNA data in rare disease

Clinical Genomics

Date:

Friday, Mar 21, 2025 10:30am – 11:30am

Conference:

ACMG 2025

Authors:

Jessica Gage, Jessica Grzybowski, Catherine Schultz, 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

Presentation

Maximizing Clinical Utility of Exomes: Greater Than The Sum Of Its Parts

Clinical Genomics

Speakers:

Steven M. Harrison, PhD, FACMG

Conference:

ACMG 2025

Thursday, Mar 20, 2025 11:55am – 12:25pm