Jijun Wan
University of California, Los Angeles(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing, Mitochondrial Function and Pathology, Ion channel regulation and function
Most-Cited Works
- → C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy(2007)447 cited
- → Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis(2004)384 cited
- → Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures(2005)369 cited
- → Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration(2012)259 cited
- → Diagnostic utility of transcriptome sequencing for rare Mendelian diseases(2019)211 cited
- → Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission(2001)146 cited
- → Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake(2009)145 cited
- → Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia(2016)97 cited
- → Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients(2020)96 cited
- → Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria(2017)80 cited