Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
Nynke Oosterhof(Erasmus MC), James T. Bennett(Seattle Children's Hospital), Giridhar M. Shivaram(Seattle Children's Hospital), C. Dirk Keene(University of Washington), Emily Loter(Seattle Children's Hospital), Caitlin S. Latimer(University of Washington), Robert F. Hevner(University of California San Diego), Dana M. Jensen(Seattle Children's Hospital), Erica P. Young(James S. McDonnell Foundation), Jeroen Demmers(Erasmus MC), Ehsan Ghayoor Karimiani(St George's, University of London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Herma C. van der Linde(Erasmus MC), Lee Astle(Alaska Native Medical Center), Laura E. Kuil(Erasmus MC), Tjakko J. van Ham(Broad Institute), Irene J. Chang(Seattle Children's Hospital), Ray A. M. Daza
Cited by 263
Related Papers
Dipeptidyl peptidase 4 is a functional receptor for the emerging human coronavirus-EMC
|Nature|2013|2.1k
Functional Outcomes Over the First Year After Moderate to Severe Traumatic Brain Injury in the Prospective, Longitudinal TRACK-TBI Study
|JAMA Neurology|2021|394
Sex-Specific Association of Apolipoprotein E With Cerebrospinal Fluid Levels of Tau
|JAMA Neurology|2018|349
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
|Nature Communications|2019|249
Targeted long-read sequencing identifies missing disease-causing variation
|The American Journal of Human Genetics|2021|239