| Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... Cell 180 (3), 568-584. e23, 2020 | 1888 | 2020 |
| Chemomechanical coupling without ATP: the source of energy for motility and chemotaxis in bacteria SH Larsen, J Adler, JJ Gargus, RW Hogg Proceedings of the National Academy of Sciences 71 (4), 1239-1243, 1974 | 422 | 1974 |
| Relative carnitine deficiency in autism PA Filipek, J Juranek, MT Nguyen, C Cummings, JJ Gargus Journal of autism and developmental disorders 34, 615-623, 2004 | 277 | 2004 |
| Rare coding variation provides insight into the genetic architecture and phenotypic context of autism JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins, S Dong, B Wamsley, ... Nature genetics 54 (9), 1320-1331, 2022 | 271 | 2022 |
| Mitochondrial dysfunction in autistic patients with 15q inverted duplication PA Filipek, J Juranek, M Smith, LZ Mays, ER Ramos, M Bocian, ... Annals of neurology 53 (6), 801-804, 2003 | 193 | 2003 |
| Urinary concentrating ability in patients with Jk (ab-) blood type who lack carrier-mediated urea transport. JM Sands, JJ Gargus, O Fröhlich, RB Gunn, JP Kokko Journal of the American Society of Nephrology 2 (12), 1689-1696, 1992 | 158 | 1992 |
| Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism JJ Gargus Annals of the New York Academy of Sciences 1151 (1), 133-156, 2009 | 149 | 2009 |
| Channelopathy pathogenesis in autism spectrum disorders G Schmunk, JJ Gargus Frontiers in genetics 4, 222, 2013 | 130 | 2013 |
| Design and characterization of a highly selective peptide inhibitor of the small conductance calcium-activated K+ channel, SkCa2 VG Shakkottai, I Regaya, H Wulff, Z Fajloun, H Tomita, M Fathallah, ... Journal of Biological Chemistry 276 (46), 43145-43151, 2001 | 130 | 2001 |
| Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants SA Jones, V Valayannopoulos, E Schneider, S Eckert, M Banikazemi, ... Genetics in Medicine 18 (5), 452-458, 2016 | 114 | 2016 |
| Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses B Liang, M Moussaif, CJ Kuan, JJ Gargus, JY Sze Cell metabolism 4 (6), 429-440, 2006 | 114 | 2006 |
| Ion channel functional candidate genes in multigenic neuropsychiatric disease JJ Gargus Biological psychiatry 60 (2), 177-185, 2006 | 107 | 2006 |
| Novel truncated isoform of SK3 potassium channel is a potent dominant-negative regulator of SK currents: implications in schizophrenia H Tomita, VG Shakkottai, GA Gutman, G Sun, WE Bunney, MD Cahalan, ... Molecular psychiatry 8 (5), 524-535, 2003 | 99 | 2003 |
| Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study SA Jones, S Rojas-Caro, AG Quinn, M Friedman, S Marulkar, F Ezgu, ... Orphanet journal of rare diseases 12, 1-11, 2017 | 98 | 2017 |
| Alterations in the α2 isoform of Na, K-ATPase associated with familial hemiplegic migraine type 2 L Segall, A Mezzetti, R Scanzano, JJ Gargus, E Purisima, R Blostein Proceedings of the National Academy of Sciences 102 (31), 11106-11111, 2005 | 98 | 2005 |
| Phenotype and genotype variation in primary carnitine deficiency Y Wang, SH Korman, J Ye, JJ Gargus, A Gutman, F Taroni, B Garavaglia, ... Genetics in Medicine 3 (6), 387-392, 2001 | 98 | 2001 |
| Kinetic alterations due to a missense mutation in the Na, K-ATPase α2 subunit cause familial hemiplegic migraine type 2 L Segall, R Scanzano, MA Kaunisto, M Wessman, A Palotie, JJ Gargus, ... Journal of Biological Chemistry 279 (42), 43692-43696, 2004 | 87 | 2004 |
| Urea transport deficiency in Jk (ab-) erythrocytes O Frohlich, RI Macey, J Edwards-Moulds, JJ Gargus, RB Gunn American Journal of Physiology-Cell Physiology 260 (4), C778-C783, 1991 | 84 | 1991 |
| A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2 MA Kaunisto, H Harno, KRJ Vanmolkot, JJ Gargus, G Sun, E Hämäläinen, ... Neurogenetics 5, 141-146, 2004 | 79 | 2004 |
| Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3 JJ Gargus, A Tournay Pediatric neurology 37 (6), 407-410, 2007 | 76 | 2007 |
