Clinical whole exome sequencing in child neurology practice

2014286 citationsJournal Article

Authors

Siddharth Srivastava · Moser (Czechia)

Julie S. Cohen · Kennedy Krieger Institute

Hilary J. Vernon

Kristin Barañano · Johns Hopkins University

Rebecca McClellan · Moser (Czechia)

Leila Jamal · Moser (Czechia)

SakkuBai Naidu · Johns Hopkins Medicine

Abstract

The high diagnostic yield of WES supports its use in pediatric neurology practices. It may also lead to earlier diagnosis, impacting medical management, prognostication, and family planning. WES therefore serves as a critical tool for the child neurologist.

Topics & Keywords

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

UN Sustainable Development Goals

Quality Education

Publication Details

Published in: Annals of Neurology

Volume 76, Issue 4, pp. 473-483

DOI: 10.1002/ana.24251

Field-Weighted Citation Impact: 17.48