| Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene A Takata, B Xu, I Ionita-Laza, JL Roos, JA Gogos, M Karayiorgou Neuron 82 (4), 773-780, 2014 | 207 | 2014 |
| Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci A Takata, N Matsumoto, T Kato Nature communications 8 (1), 1-11, 2017 | 200 | 2017 |
| Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder A Takata, N Miyake, Y Tsurusaki, R Fukai, S Miyatake, E Koshimizu, ... Cell reports 22 (3), 734-747, 2018 | 162 | 2018 |
| De novo synonymous mutations in regulatory elements contribute to the genetic etiology of autism and schizophrenia A Takata, I Ionita-Laza, JA Gogos, B Xu, M Karayiorgou Neuron 89 (5), 940-947, 2016 | 142 | 2016 |
| Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations M Kataoka, N Matoba, T Sawada, AA Kazuno, M Ishiwata, K Fujii, ... Molecular psychiatry 21 (7), 885-893, 2016 | 118 | 2016 |
| Recapitulation and reversal of schizophrenia-related phenotypes in Setd1a-deficient mice J Mukai, E Cannavò, GW Crabtree, Z Sun, A Diamantopoulou, P Thakur, ... Neuron 104 (3), 471-487. e12, 2019 | 100 | 2019 |
| Depression-like episodes in mice harboring mtDNA deletions in paraventricular thalamus T Kasahara, A Takata, TM Kato, M Kubota-Sakashita, T Sawada, A Kakita, ... Molecular psychiatry 21 (1), 39-48, 2016 | 84 | 2016 |
| Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia A Takata, M Kato, M Nakamura, T Yoshikawa, S Kanba, A Sano, T Kato Genome biology 12 (9), 1-7, 2011 | 63 | 2011 |
| Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients F Sekiguchi, Y Tsurusaki, N Okamoto, KW Teik, S Mizuno, H Suzumura, ... Journal of human genetics 64 (12), 1173-1186, 2019 | 57 | 2019 |
| Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy A Takata, M Nakashima, H Saitsu, T Mizuguchi, S Mitsuhashi, ... Nature communications 10 (1), 1-14, 2019 | 56 | 2019 |
| A population-specific uncommon variant in GRIN3A associated with schizophrenia A Takata, Y Iwayama, Y Fukuo, M Ikeda, T Okochi, M Maekawa, T Toyota, ... Biological psychiatry 73 (6), 532-539, 2013 | 55 | 2013 |
| Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome H Aoi, T Mizuguchi, JR Ceroni, VEH Kim, I Furquim, RS Honjo, T Iwaki, ... Journal of human genetics 64 (10), 967-978, 2019 | 50 | 2019 |
| Biallelic COLGALT1 variants are associated with cerebral small vessel disease S Miyatake, S Schneeberger, N Koyama, K Yokochi, K Ohmura, M Shiina, ... Annals of neurology 84 (6), 843-853, 2018 | 43 | 2018 |
| Novel SUZ12 mutations in Weaver‐like syndrome E Imagawa, EVA Albuquerque, B Isidor, S Mitsuhashi, T Mizuguchi, ... Clinical genetics 94 (5), 461-466, 2018 | 43 | 2018 |
| RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy K Hamanaka, S Miyatake, E Koshimizu, Y Tsurusaki, S Mitsuhashi, ... Genetics in Medicine 21 (7), 1629-1638, 2019 | 42 | 2019 |
| Association of ANK3 with bipolar disorder confirmed in East Asia A Takata, SH Kim, N Ozaki, N Iwata, H Kunugi, T Inada, H Ujike, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011 | 42 | 2011 |
| Detection of copy number variations in epilepsy using exome data N Tsuchida, M Nakashima, M Kato, E Heyman, T Inui, K Haginoya, ... Clinical genetics 93 (3), 577-587, 2018 | 41 | 2018 |
| De novo truncating variants in the last exon of SEMA6B cause progressive myoclonic epilepsy K Hamanaka, E Imagawa, E Koshimizu, S Miyatake, J Tohyama, ... The American Journal of Human Genetics 106 (4), 549-558, 2020 | 39 | 2020 |
| Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease N Tsuchida, Y Kirino, Y Soejima, M Onodera, K Arai, E Tamura, ... Arthritis research & therapy 21 (1), 1-12, 2019 | 39 | 2019 |
| Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing K Iwama, T Mizuguchi, E Takeshita, E Nakagawa, T Okazaki, Y Nomura, ... Journal of Medical Genetics 56 (6), 396-407, 2019 | 37 | 2019 |
