Jijun Wan

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen et al. · Nature Genetics · 2007 · 444 citations

Ocular Disease, C-terminal Truncations, Retina +8

Mutations in a Human <i>ROBO</i> Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Joanna C. Jen, Wai‐Man Chan, Thomas M. Bosley et al. · Science · 2004 · 381 citations · Full text

Axon Guidance, Molecular Neuroscience, Developmental Biology +15

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures

Joanna C. Jen, Jijun Wan, Teresa P. Palos et al. · Neurology · 2005 · 368 citations

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa et al. · Nature Genetics · 2012 · 257 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +6

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee, Alden Huang, Lee-kai Wang et al. · Genetics in Medicine · 2019 · 207 citations · Full text

Sequencing, Mendelian Disorder, Diagnostic Utility +7