|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Association analysis of adenosine A1 receptor gene (ADORA1) polymorphisms with schizophrenia in a Japanese population|
L Gotoh, H Mitsuyasu, Y Kobayashi, N Oribe, A Takata, H Ninomiya, ...
Psychiatric genetics 19 (6), 328-335, 2009
|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
|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
|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
|Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders|
T Mizuguchi, M Nakashima, M Kato, N Okamoto, H Kurahashi, ...
Human molecular genetics 27 (8), 1421-1433, 2018
|A novel mutation in SLC1A3 causes episodic ataxia|
K Iwama, A Iwata, M Shiina, S Mitsuhashi, S Miyatake, A Takata, N Miyake, ...
Journal of human genetics 63 (2), 207-211, 2018