Genetics in Medicine Open (Jan 2023)

P569: Identification of a novel, deep-intronic alteration in KDM6A: How a multi-omics approach ended a 10+ year diagnostic odyssey*

Matthew Tedder,
Jessica Cooley Coleman,
Anna Childers,
Jennifer Kerkhof,
Raymond Louie,
Jennifer Lee,
Michael Friez,
Bekim Sadikovic,
David Everman,
Richard Rogers,
Raymond Caylor

Affiliations

Matthew Tedder: Greenwood Genetic Center
Jessica Cooley Coleman: Greenwood Genetic Center
Anna Childers: Greenwood Genetic Center
Jennifer Kerkhof: London Health Sciences Molecular Diagnostic Laboratory
Raymond Louie: Greenwood Genetic Center
Jennifer Lee: Greenwood Genetic Center
Michael Friez: Greenwood Genetic Center
Bekim Sadikovic: London Health Sciences Molecular Diagnostic Laboratory
David Everman: Greenwood Genetic Center
Richard Rogers: Greenwood Genetic Center
Raymond Caylor: Greenwood Genetic Center

Journal volume & issue: Vol. 1, no. 1
p. 100616

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