Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication O Bozdagi, T Sakurai, D Papapetrou, X Wang, DL Dickstein, N Takahashi, ... Molecular autism 1, 1-15, 2010 | 648 | 2010 |
Autism-like deficits in Shank3-deficient mice are rescued by targeting actin regulators LJ Duffney, P Zhong, J Wei, E Matas, J Cheng, L Qin, K Ma, DM Dietz, ... Cell reports 11 (9), 1400-1413, 2015 | 283 | 2015 |
Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer’s disease M Wang, P Roussos, A McKenzie, X Zhou, Y Kajiwara, KJ Brennand, ... Genome medicine 8, 1-21, 2016 | 261 | 2016 |
cGAS drives noncanonical-inflammasome activation in age-related macular degeneration N Kerur, S Fukuda, D Banerjee, Y Kim, D Fu, I Apicella, A Varshney, ... Nature medicine 24 (1), 50-61, 2018 | 233 | 2018 |
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder CS Poultney, AP Goldberg, E Drapeau, Y Kou, H Harony-Nicolas, ... The American Journal of Human Genetics 93 (4), 607-619, 2013 | 185 | 2013 |
A critical role for human caspase-4 in endotoxin sensitivity Y Kajiwara, T Schiff, G Voloudakis, MA Gama Sosa, G Elder, O Bozdagi, ... The Journal of Immunology 193 (1), 335-343, 2014 | 126 | 2014 |
Canonical inflammasomes drive IFN-γ to prime caspase-11 in defense against a cytosol-invasive bacterium Y Aachoui, Y Kajiwara, IA Leaf, D Mao, JPY Ting, J Coers, A Aderem, ... Cell host & microbe 18 (3), 320-332, 2015 | 121 | 2015 |
Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene JD Buxbaum, L Georgieva, JJ Young, C Plescia, Y Kajiwara, Y Jiang, ... Molecular psychiatry 13 (2), 162-172, 2008 | 101 | 2008 |
GJA1 (connexin43) is a key regulator of Alzheimer’s disease pathogenesis Y Kajiwara, E Wang, M Wang, WC Sin, KJ Brennand, E Schadt, CC Naus, ... Acta neuropathologica communications 6, 1-20, 2018 | 74 | 2018 |
Behavioral phenotyping of an improved mouse model of Phelan–McDermid syndrome with a complete deletion of the Shank3 gene E Drapeau, M Riad, Y Kajiwara, JD Buxbaum Eneuro 5 (3), 2018 | 73 | 2018 |
SLITRK1 binds 14-3-3 and regulates neurite outgrowth in a phosphorylation-dependent manner Y Kajiwara, JD Buxbaum, DE Grice Biological psychiatry 66 (10), 918-925, 2009 | 70 | 2009 |
Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID DM Cochoy, A Kolevzon, Y Kajiwara, M Schoen, M Pascual-Lucas, ... Molecular autism 6, 1-13, 2015 | 69 | 2015 |
Characterization of SLITRK1 variation in obsessive-compulsive disorder U Ozomaro, G Cai, Y Kajiwara, S Yoon, V Makarov, R Delorme, ... PloS one 8 (8), e70376, 2013 | 63 | 2013 |
Intestinal dysmotility in a zebrafish (Danio rerio) shank3a;shank3b mutant model of autism DM James, RA Kozol, Y Kajiwara, AL Wahl, EC Storrs, JD Buxbaum, ... Molecular autism 10, 1-15, 2019 | 59 | 2019 |
FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4 Y Kajiwara, A Akram, P Katsel, V Haroutunian, J Schmeidler, G Beecham, ... PLoS One 4 (4), e5071, 2009 | 55 | 2009 |
Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities A Kolevzon, G Cai, L Soorya, N Takahashi, D Grodberg, Y Kajiwara, ... Brain research 1380, 98-105, 2011 | 37 | 2011 |
Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia A Deik, B Johannes, JC Rucker, E Sánchez, SE Brodie, E Deegan, ... Journal of neurology 261, 2411-2423, 2014 | 36 | 2014 |
The human-specific CASP4 gene product contributes to Alzheimer-related synaptic and behavioural deficits Y Kajiwara, A McKenzie, N Dorr, MA Gama Sosa, G Elder, J Schmeidler, ... Human molecular genetics 25 (19), 4315-4327, 2016 | 31 | 2016 |
Calsenilin interacts with transcriptional co‐repressor C‐terminal binding protein (s) NF Zaidi, KG Kuplast, KJ Washicosky, Y Kajiwara, JD Buxbaum, W Wasco Journal of neurochemistry 98 (4), 1290-1301, 2006 | 29 | 2006 |
Presenilin 1 is necessary for neuronal, but not glial, EGFR expression and neuroprotection via γ-secretase-independent transcriptional mechanisms J Bruban, G Voloudakis, Q Huang, Y Kajiwara, M Al Rahim, Y Yoon, ... The FASEB Journal 29 (9), 3702, 2015 | 22 | 2015 |