Reza Maroofian
Wellcome Centre for Human Neuroimaging(GB)Queen Mary University of London(GB)MRC Prion Unit(GB)National Hospital for Neurology and Neurosurgery(GB)University College London(GB)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Mitochondrial Function and Pathology, Cellular transport and secretion, RNA modifications and cancer
Most-Cited Works
- → Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia(2019)257 cited
- → AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders(2019)242 cited
- → Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis(2013)141 cited
- → Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents(2016)137 cited
- → A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency(2019)118 cited
- → Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy(2019)103 cited