Jijun Wan - Concepedia

Author

Jijun Wan

University of California, Los Angeles ORCID

Also Known As

Angelo Selicorni, Daniel Wegner, Gary Bellus, J Wan, J. Wan, Janet S Sinsheimer, Janet S. Sinsheimer, Jennifer Wambach, Ji-jun Wan, JiJun Wan

Publications

3.7K

Citations

H-Index

Concepts

All Affiliations

University of California, Los Angeles Boston Children's Hospital Columbia University Baylor College of Medicine University of Utah

About

Jijun Wan is an author at University of California, Los Angeles specializing in medicine, genetics, and neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	13	1.7K
2	Social Sciences	5	5	513
3	Engineering	1	1	80
4	Natural Sciences	1	1	80
5	Biochemistry	1	1	80

Jijun Wan

Publications

2.8K

Citations

H-Index

Page 1

	Year	Citations
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, Nature Genetics Ocular DiseaseC-terminal TruncationsRetinaOphthalmologyGenetic Disorder	2007	444
Mutations in a Human <i>ROBO</i> Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis Joanna C. Jen, Wai‐Man Chan, Thomas M. Bosley, Science Axon GuidanceMolecular NeuroscienceDevelopmental BiologyGenetic DisorderDevelopmental Genetics	2004	381
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures Joanna C. Jen, Jijun Wan, Teresa P. Palos, Neurology	2005	368
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Nature Genetics Neurodegenerative DiseasesGenetic DisorderGeneticsDegenerative DiseaseMolecular Genetics	2012	257
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases Hane Lee, Alden Huang, Lee-kai Wang, Genetics in Medicine SequencingMendelian DisorderDiagnostic UtilityMedicineGenetics	2019	207
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission Joanna C. Jen, Jijun Wan, M C Graves, Neurology	2001	146
Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake Boukje de Vries, Hafsa Mamsa, Anine H Stam, Archives of Neurology	2009	145
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia Jijun Wan, Janos Steffen, Michael Yourshaw, Brain	2016	97
Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria Janos Steffen, Ajay A. Vashisht, Jijun Wan, Molecular Biology of the Cell MitophagyGeneticsCell DeathMolecular BiologyMolecular Genetics	2017	80
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative Vandana Shashi, Kelly Schoch, Rebecca C. Spillmann, Genetics in Medicine EngineeringMedicineComprehensive Iterative ApproachDiagnosisPathology	2018	80

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