Mendelian etiologies identified with whole exome sequencing in cerebral palsy

202280 citationsJournal Articlegold Open Access

Authors

Maya Chopra · Boston Children's Hospital

Dustin L. Gable · Boston Children's Hospital

Jamie Love‐Nichols · Seattle Children's Hospital

Alexa Tsao

Shira Rockowitz · Boston Children's Hospital

Piotr Sliz · Boston Children's Hospital

Elizabeth Barkoudah · Boston Children's Hospital

Abstract

WES demonstrated a significant prevalence of Mendelian disorders in individuals clinically diagnosed with CP, including in individuals with known CP risk factors.

Topics & Keywords

Neurogenetic and Muscular Disorders Research Genomics and Rare Diseases Cerebral Palsy and Movement Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Annals of Clinical and Translational Neurology

Volume 9, Issue 2, pp. 193-205

DOI: 10.1002/acn3.51506

Field-Weighted Citation Impact: 11.93