| Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2406 | 2010 |
| Autism genome-wide copy number variation reveals ubiquitin and neuronal genes JT Glessner, K Wang, G Cai, O Korvatska, CE Kim, S Wood, H Zhang, ... Nature 459 (7246), 569-573, 2009 | 1647 | 2009 |
| Mapping autism risk loci using genetic linkage and chromosomal rearrangements Nature genetics 39 (3), 319-328, 2007 | 1644 | 2007 |
| Common genetic variants on 5p14. 1 associate with autism spectrum disorders K Wang, H Zhang, D Ma, M Bucan, JT Glessner, BS Abrahams, ... Nature 459 (7246), 528-533, 2009 | 1142 | 2009 |
| A genome-wide linkage and association scan reveals novel loci for autism LA Weiss, DE Arking, ... Nature 461 (7265), 802-808, 2009 | 812 | 2009 |
| A genome-wide scan for common alleles affecting risk for autism R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics 19 (20), 4072-4082, 2010 | 733 | 2010 |
| Kerato-epithelin mutations in four 5q31-linked corneal dystrophies FL Munier, E Korvatska, A Djemaï, DL Paslier, L Zografos, G Pescia, ... Nature genetics 15 (3), 247-251, 1997 | 668 | 1997 |
| Impaired dopaminergic neurotransmission and microtubule-associated protein tau alterations in human LRRK2 transgenic mice HL Melrose, JC Dächsel, B Behrouz, SJ Lincoln, M Yue, KM Hinkle, ... Neurobiology of disease 40 (3), 503-517, 2010 | 313 | 2010 |
| Genetic and immunologic considerations in autism E Korvatska, J Van de Water, TF Anders, ME Gershwin Neurobiology of Disease 9 (2), 107-125, 2002 | 213 | 2002 |
| Mutation hot spots in 5q31-linked corneal dystrophies E Korvatska, FL Munier, A Djemai, MX Wang, B Frueh, AGY Chiou, S Uffer, ... The American Journal of Human Genetics 62 (2), 320-324, 1998 | 166 | 1998 |
| Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS) O Korvatska, NS Strand, JD Berndt, T Strovas, DH Chen, JB Leverenz, ... Human molecular genetics 22 (16), 3259-3268, 2013 | 163 | 2013 |
| Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families AE Timms, MO Dorschner, J Wechsler, KY Choi, R Kirkwood, S Girirajan, ... JAMA psychiatry 70 (6), 582-590, 2013 | 161 | 2013 |
| R47H variant of TREM2 associated with Alzheimer disease in a large late-onset family: clinical, genetic, and neuropathological study O Korvatska, JB Leverenz, S Jayadev, P McMillan, I Kurtz, X Guo, ... JAMA neurology 72 (8), 920-927, 2015 | 160 | 2015 |
| Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein E Korvatska, H Henry, Y Mashima, M Yamada, C Bachmann, FL Munier, ... Journal of Biological Chemistry 275 (15), 11465-11469, 2000 | 151 | 2000 |
| ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations DH Chen, A Méneret, JR Friedman, O Korvatska, A Gad, ES Bonkowski, ... Neurology 85 (23), 2026-2035, 2015 | 123 | 2015 |
| On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies E Korvatska, FL Munier, P Chaubert, MX Wang, Y Mashima, M Yamada, ... Investigative ophthalmology & visual science 40 (10), 2213-2219, 1999 | 105 | 1999 |
| Heterogeneous association between engrailed‐2 and autism in the CPEA network CW Brune, E Korvatska, K Allen‐Brady, EH Cook Jr, G Dawson, B Devlin, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147 …, 2008 | 51 | 2008 |
| Triggering receptor expressed on myeloid cell 2 R47H exacerbates immune response in Alzheimer’s disease brain O Korvatska, K Kiianitsa, A Ratushny, M Matsushita, N Beeman, ... Frontiers in immunology 11, 559342, 2020 | 31 | 2020 |
| Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation F Filipello, SF You, FS Mirfakhar, S Mahali, B Bollman, M Acquarone, ... Acta neuropathologica 145 (6), 749-772, 2023 | 30 | 2023 |
| The human TAX1 gene encoding the axon-associated cell adhesion molecule TAG-1/axonin-1: genomic structure and basic promoter SV Kozlov, RJ Giger, T Hasler, E Korvatska, DF Schorderet, ... Genomics 30 (2), 141-148, 1995 | 30 | 1995 |
