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A. Takata · SciRah

Researcher profile · Semantic Scholar

A. Takata

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A. Takata — researcher profile on SciRah

h-index: 31
Works: 82
Citations: 2,719

Most-cited papers

Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene
A. Takata, Bin Xu, I. Ionita-Laza, J. Roos +2 more
2014Neuron196 citations Open access
Semantic Scholar
Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
A. Takata, N. Matsumoto, T. Kato
2017Nature Communications190 citations Open access
Semantic Scholar
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
A. Takata, N. Miyake, Y. Tsurusaki, R. Fukai +42 more
2018Cell Reports166 citations Open access
Semantic Scholar
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia
A. Takata, I. Ionita-Laza, J. Gogos, Bin Xu +1 more
2016Neuron132 citations Open access
Semantic Scholar
Recapitulation and reversal of schizophrenia-related phenotypes in Setd1a-deficient mice
J. Mukai, E. Cannavó, G. Crabtree, Ziyi Sun +8 more
2019bioRxiv121 citations Open access
Semantic Scholar
Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations
M. Kataoka, N. Matoba, T. Sawada, A. Kazuno +5 more
2016Molecular Psychiatry109 citations Open access
Semantic Scholar
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
F. Sekiguchi, Y. Tsurusaki, N. Okamoto, K. W. Teik +75 more
2019Journal of Human Genetics64 citations Open access
Semantic Scholar
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
A. Takata, M. Nakashima, H. Saitsu, T. Mizuguchi +61 more
2019Nature Communications61 citations Open access
Semantic Scholar
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice
Kazushi Aoto, M. Kato, T. Akita, M. Nakashima +21 more
2021Nature Communications54 citations Open access
Semantic Scholar
Biallelic COLGALT1 variants are associated with cerebral small vessel disease
S. Miyatake, Sacha Schneeberger, N. Koyama, K. Yokochi +24 more
2018Annals of Neurology53 citations
Semantic Scholar
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Hiromi Aoi, T. Mizuguchi, J. Ceroni, V. Kim +18 more
2019Journal of Human Genetics52 citations
Semantic Scholar
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 +15 more
2019Arthritis Research & Therapy52 citations Open access
Semantic Scholar
A population-specific uncommon variant in GRIN3A associated with schizophrenia.
A. Takata, Y. Iwayama, Yasuhisa Fukuo, M. Ikeda +18 more
2013Biological Psychiatry52 citations Open access
Semantic Scholar
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
A. Takata, Maiko Kato, Masayuki Nakamura, T. Yoshikawa +3 more
2011Genome Biology51 citations Open access
Semantic Scholar
The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research
Takumi Nakamura, A. Takata
2023Molecular Psychiatry50 citations Open access
Semantic Scholar
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders
T. Mizuguchi, M. Nakashima, M. Kato, N. Okamoto +18 more
2018Human Molecular Genetics48 citations Open access
Semantic Scholar
Novel SUZ12 mutations in Weaver‐like syndrome
E. Imagawa, E. V. Albuquerque, B. Isidor, S. Mitsuhashi +10 more
2018Clinical Genetics47 citations Open access
Semantic Scholar
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
K. Hamanaka, E. Imagawa, Eriko Koshimizu, S. Miyatake +20 more
2020American Journal of Human Genetics43 citations Open access
Semantic Scholar
Detection of copy number variations in epilepsy using exome data
N. Tsuchida, M. Nakashima, M. Kato, E. Heyman +29 more
2018Clinical Genetics43 citations Open access
Semantic Scholar
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
T. Mizuguchi, T. Toyota, S. Miyatake, S. Mitsuhashi +18 more
2021Brain : a journal of neurology42 citations Open access
Semantic Scholar
Prenatal clinical manifestations in individuals with COL4A1/2 variants
T. Itai, S. Miyatake, M. Taguri, F. Nozaki +71 more
2020Journal of Medical Genetics40 citations
Semantic Scholar
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.
N. Miyake, Hidehisa Takahashi, Kazuyuki Nakamura, B. Isidor +19 more
2019American Journal of Human Genetics40 citations Open access
Semantic Scholar
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
K. Hamanaka, N. Miyake, T. Mizuguchi, S. Miyatake +23 more
2022Genome Medicine39 citations Open access
Semantic Scholar
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
Kazuhiro Iwama, T. Mizuguchi, E. Takeshita, E. Nakagawa +44 more
2019Journal of Medical Genetics39 citations
Semantic Scholar
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
K. Hamanaka, S. Miyatake, Eriko Koshimizu, Y. Tsurusaki +18 more
2018Genetics in Medicine37 citations Open access
Semantic Scholar
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder
Masaki Nishioka, A. Kazuno, Takumi Nakamura, Naomi Sakai +19 more
2021Nature Communications36 citations Open access
Semantic Scholar
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant
Y. Uchiyama, C. Kim, A. Pastorino, J. Ceroni +12 more
2019Journal of Human Genetics35 citations
Semantic Scholar
A novel SLC9A1 mutation causes cerebellar ataxia
Kazuhiro Iwama, H. Osaka, Takahiro Ikeda, S. Mitsuhashi +6 more
2018Journal of Human Genetics34 citations
Semantic Scholar
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
K. Hamanaka, A. Takata, Y. Uchiyama, S. Miyatake +19 more
2019Human Molecular Genetics33 citations
Semantic Scholar
A novel mutation in SLC1A3 causes episodic ataxia
Kazuhiro Iwama, A. Iwata, M. Shiina, S. Mitsuhashi +7 more
2018Journal of Human Genetics33 citations
Semantic Scholar
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts
Kazuhiro Iwama, T. Mizuguchi, Jun-ichi Takanashi, H. Shibayama +22 more
2017Clinical Genetics31 citations
Semantic Scholar
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder
Takaoki Kasahara, M. Ishiwata, C. Kakiuchi, S. Fuke +16 more
2017Psychiatry and Clinical Neurosciences31 citations Open access
Semantic Scholar
Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Y. Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, S. Miyatake +60 more
2020Human Mutation30 citations Open access
Semantic Scholar
De novo ATP1A3 variants cause polymicrogyria
S. Miyatake, M. Kato, Takuma Kumamoto, Tomonori Hirose +45 more
2021Science Advances29 citations Open access
Semantic Scholar
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
Kouhei Den, Y. Kudo, M. Kato, Kosuke Watanabe +9 more
2019BMC Neurology28 citations Open access
Semantic Scholar
Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma
Atsushi Fujita, Takefumi Higashijima, Hiroshi Shirozu, H. Masuda +14 more
2019Neurology26 citations
Semantic Scholar
Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy
N. Tsuchida, M. Nakashima, A. Miyauchi, S. Yoshitomi +14 more
2017Clinical Genetics26 citations
Semantic Scholar
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
T. Itai, K. Hamanaka, K. Sasaki, M. Wagner +29 more
2020Human Mutation25 citations
Semantic Scholar
A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia
Y. Uchiyama, K. Yanagisawa, S. Kunishima, M. Shiina +14 more
2018Clinical Genetics25 citations
Semantic Scholar
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy
M. Sakamoto, Kazuhiro Iwama, F. Sekiguchi, H. Mashimo +13 more
2020Journal of Human Genetics24 citations
Semantic Scholar
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome
N. Miyake, S. Ozasa, H. Mabe, S. Kimura +8 more
2018Clinical Genetics24 citations
Semantic Scholar
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy
Kazuhiro Iwama, Toru Takaori, A. Fukushima, J. Tohyama +10 more
2018Journal of Human Genetics24 citations Open access
Semantic Scholar
Association analysis of adenosine A1 receptor gene (ADORA1) polymorphisms with schizophrenia in a Japanese population
L. Gotoh, H. Mitsuyasu, Yuki Kobayashi, N. Oribe +6 more
2009Psychiatric Genetics23 citations
Semantic Scholar
Molecular diagnosis of 405 individuals with autism spectrum disorder
N. Miyake, Y. Tsurusaki, R. Fukai, I. Kushima +44 more
2023European Journal of Human Genetics22 citations Open access
Semantic Scholar
Estimating contribution of rare non‐coding variants to neuropsychiatric disorders
A. Takata
2018Psychiatry and Clinical Neurosciences22 citations
Semantic Scholar
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia
Hiroyuki Fukuda, E. Imagawa, K. Hamanaka, Atsushi Fujita +8 more
2018Journal of Human Genetics21 citations
Semantic Scholar
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
K. Hamanaka, S. Miyatake, A. Zerem, D. Lev +14 more
2018Journal of Human Genetics20 citations Open access
Semantic Scholar
Whole exome sequencing of fetal structural anomalies detected by ultrasonography
Hiromi Aoi, T. Mizuguchi, Toshifumi Suzuki, S. Makino +17 more
2020Journal of Human Genetics19 citations
Semantic Scholar
GRIN2D variants in three cases of developmental and epileptic encephalopathy
N. Tsuchida, K. Hamada, M. Shiina, M. Kato +15 more
2018Clinical Genetics19 citations
Semantic Scholar
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features
F. Sekiguchi, J. Nasiri, M. Sedghi, Mansoor Salehi +8 more
2018Journal of Human Genetics18 citations
Semantic Scholar

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N. Matsumoto×39
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N. Matsumoto — researcher profile on SciRah
N. Miyake×38
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N. Miyake — researcher profile on SciRah
S. Miyatake×38
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S. Miyatake — researcher profile on SciRah
T. Mizuguchi×38
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Eriko Koshimizu — researcher profile on SciRah

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M. Kato — researcher profile on SciRah

Y. Uchiyama×15

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Y. Uchiyama — researcher profile on SciRah