フォロー
Atsushi Takata
Atsushi Takata
RIKEN CBS
確認したメール アドレス: riken.jp
タイトル
引用先
引用先
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
2062014
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
1952017
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
1582018
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
1422016
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
1172016
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
982019
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
832016
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
622011
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
542019
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
542013
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
512019
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
502019
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
422011
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
412019
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
412018
Novel SUZ12 mutations in Weaver‐like syndrome
E Imagawa, EVA Albuquerque, B Isidor, S Mitsuhashi, T Mizuguchi, ...
Clinical genetics 94 (5), 461-466, 2018
412018
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
402018
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
392019
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
362019
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
362018
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