Genetics in Medicine Open (Jan 2024)

P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey

Jessica Cooley Coleman,
Adithya Kandhadai,
Christa Clinemyer,
Timothy Fee,
Benjamin Hilton,
Barbara DuPont,
Michael Lyons,
Roger Stevenson,
Michael Friez

Affiliations

Jessica Cooley Coleman: Greenwood Genetic Center
Adithya Kandhadai: Greenwood Genetic Center
Christa Clinemyer: Greenwood Genetic Center
Timothy Fee: Greenwood Genetic Center
Benjamin Hilton: Greenwood Genetic Center
Barbara DuPont: Greenwood Genetic Center
Michael Lyons: Greenwood Genetic Center
Roger Stevenson: Greenwood Genetic Center
Michael Friez: Greenwood Genetic Center

Journal volume & issue: Vol. 2
p. 101631

Abstract

No abstracts available.

Published in Genetics in Medicine Open

ISSN: 2949-7744 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics; Medicine
Website: https://www.sciencedirect.com/journal/genetics-in-medicine-open

About the journal