J. Jay Gargus - Concepedia

Author

J. Jay Gargus

University of California, Irvine

Also Known As

Elisa Giorgio, J J Gargus, J. Gargus, J. J. Gargus, J. Jay Gargus, Jay Gargus, Jay J. Gargus

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

University of California, Irvine University of California, Los Angeles University of Manchester Center for Autism and Related Disorders University of Turin

About

J. Jay Gargus is an author at University of California, Irvine specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	466
2	Social Sciences	2	2	159
3	Public Health	1	1	35
4	Biostatistics	1	1	35
5	Hepatology	1	1	11

J. Jay Gargus

Publications

746

Citations

H-Index

Page 1

	Year	Citations
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome Mariella Simon, Élodie M. Richard, Xinjian Wang, PLoS Genetics Neurodegenerative DiseasesMendelian DisorderMitochondrial BiogenesisMitochondrial FunctionGenetic Disorder	2015	113
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver William L. Nyhan, J. Jay Gargus, Karen Boyle, European Journal of Pediatrics TransplantationNeurological DisorderMedicineNutritional NeuroscienceMethylmalonic Acidemia	2002	97
Alterations in the α2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2 Laura Segall, Alessandra Mezzetti, Rosemarie Scanzano, Proceedings of the National Academy of Sciences	2005	80
Kinetic Alterations due to a Missense Mutation in the Na,K-ATPase α2 Subunit Cause Familial Hemiplegic Migraine Type 2 Laura Segall, Rosemarie Scanzano, Mari Kaunisto, Journal of Biological Chemistry	2004	72
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2 Mari Kaunisto, Hanna Harno, Kaate R. J. Vanmolkot, Neurogenetics GeneticsFinnish FamilyNeurologyMedicineNeurogenetics	2004	64
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, Developmental Cognitive NeuroscienceBrain DevelopmentGeneticsDisease Gene IdentificationFunctional Changes	2018	62
An Apamin- and Scyllatoxin-Insensitive Isoform of the Human SK3 Channel Oliver H. Wittekindt, Violeta Visan, Hiroaki Tomita, Molecular Pharmacology	2004	46
High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder Galina Schmunk, Rachel Nguyen, David Ferguson, Scientific Reports	2017	41
Genomic organization and promoter analysis of human KCNN3 gene Guoqiang Sun, Hiroaki Tomita, Vikram G. Shakkottai, Journal of Human Genetics Transcriptional RegulationGeneticsGene StructureHuman Kcnn3 GeneMolecular Genetics	2001	38
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism Jack Fu, F. Kyle Satterstrom, Minshi Peng, NeurogenomicsGeneticsRisk GenesAsd CohortDisease Gene Identification	2021	35

Page 1