Curriculum Vitae
Atsushi Takata, M.D., Ph.D.
Team Leader (Laboratory Head)Laboratory for Molecular Pathology of Psychiatric Disorders
RIKEN Center for Brain Science
Hirosawa 2-1, Wako, Saitama, 351-0198, Japan
Phone: +81-48-467-9703
E-mail: atsushi.takata [at] riken.jp

Education
2004

M.D., Faculty of Medicine, Kyushu University

2011

Ph.D., Graduate School of Medical Sciences, Kyushu University,
Neuropsychiatry

Academic Appointments
2020-present

Team Leader, Laboratory for Molecular Pathology of Psychiatric Disorders,
RIKEN Center for Brain Science, Saitama, Japan

2020-present

Visiting Associate Professor, Department of Human Genetics, Yokohama City
University Graduate School of Medicine, Kanagawa, Japan

2018-2020

Senior Visiting Scientist, Laboratory for Molecular Dynamics of Mental
Disorders, RIKEN Center for Brain Science, Saitama, Japan

2016-2020

Assistant Professor (Lecturer), Department of Human Genetics, Yokohama City
University Graduate School of Medicine, Kanagawa, Japan

2016-2018

Senior Visiting Scientist, Laboratory for Molecular Dynamics of Mental
Disorders y, RIKEN Brain Science Institute, Saitama, Japan

2016

Visiting Associate Professor, Department of Psychiatry, Graduate School of
Biomedical Sciences, Hiroshima University, Hiroshima, Japan

2015-2016

Tenure-track Research Scientist, Laboratory for Molecular Dynamics of Mental
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Disorders, RIKEN Brain Science Institute, Saitama, Japan
2013-2015

Postdoctoral Fellow (JSPS Overseas Research Fellow), Department of
Psychiatry, Columbia University Medical Center, USA

2011-2012

Visiting Lecturer, Department of Psychiatry, Fujita Health University School of
Medicine, Aichi, Japan

2011-2015

Visiting Scientist, Laboratory for Molecular Psychiatry, RIKEN Brain Science
Institute, Saitama, Japan

2011-2015

Visiting Scientist, Laboratory for Molecular Dynamics of Mental Disorders,
RIKEN Brain Science Institute, Saitama, Japan

Hospital Appointments
2015-present

Clinical Psychiatrist, Japan Depression Center Rokubancho Mental Clinic, Tokyo,Japan

2011-2013

Clinical Psychiatrist, Yowa Hospital, Tokyo, Japan

2006-2007

Senior Resident in Psychiatry, Dazaifu Hospital Psychiatric Center, Fukuoka,Japan

2005-2006

Junior Resident, Kyushu University Hospital, Fukuoka, Japan

2004-2005

Junior Resident, National Hospital Organization Kyushu Medical Center,
Fukuoka, Japan

Board Certification
2012

Designated Psychiatrist by Japanese Ministry of Health, Labour and Welfare

Professional Organizations and Societies
2006-present

Japanese Society of Psychiatry and Neurology

2010-present

Japanese Society of Biological PsychiatryAwards2013 Academic Prize, Japanese Society for Biological Psychiatry2

Publications
1.
Hara T, Owada Y, Takata A. Genetics of bipolar disorder: insights into its complex
architecture and biology from common and rare variants. J Hum Genet. 2022.
2.
Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F,
Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori
S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M,
Okamoto N, Takata A, Matsumoto N. Large-scale discovery of novel neurodevelopmental
disorder-related genes through a unified analysis of single-nucleotide and copy number
variants. Genome Med. 2022;14(1):40.
3.
Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N,
Tsuburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y,

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Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N. Completesequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediatedenrichment. Brain. 2021;144(4):1103-17.
Aoi H, Mizuguchi T, Suzuki T, Makino S, Yamamoto Y, Takeda J, Maruyama Y, Seyama R,
Takeuchi S, Uchiyama Y, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S,
Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Matsumoto N. Whole exome
sequencing of fetal structural anomalies detected by ultrasonography. J Hum Genet.
2021;66(5):499-507.
Miyatake S, Kato M, Kumamoto T, Hirose T, Koshimizu E, Matsui T, Takeuchi H, Doi H,
Hamada K, Nakashima M, Sasaki K, Yamashita A, Takata A, Hamanaka K, Satoh M, Miyama
T, Sonoda Y, Sasazuki M, Torisu H, Hara T, Sakai Y, Noguchi Y, Miura M, Nishimura Y,
Nakamura K, Asai H, Hinokuma N, Miya F, Tsunoda T, Togawa M, Ikeda Y, Kimura N,
Amemiya K, Horino A, Fukuoka M, Ikeda H, Merhav G, Ekhilevitch N, Miura M, Mizuguchi
T, Miyake N, Suzuki A, Ohga S, Saitsu H, Takahashi H, Tanaka F, Ogata K, Ohtaka-Maruyama
C, Matsumoto N. De novo ATP1A3 variants cause polymicrogyria. Sci Adv.
2021;7(13):eabd2368.
Nishioka M, Kazuno AA, Nakamura T, Sakai N, Hayama T, Fujii K, Matsuo K, Komori A,
Ishiwata M, Watanabe Y, Oka T, Matoba N, Kataoka M, Alkanaq AN, Hamanaka K, Tsuboi T,
Sengoku T, Ogata K, Iwata N, Ikeda M, Matsumoto N, Kato T, Takata A. Systematic analysisof exonic germline and postzygotic de novo mutations in bipolar disorder. Nat Commun.
2021;12(1):3750.
Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brosse I, Ries M, Kobayashi Y,
Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y,
Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H,
Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S,
Matsumoto N. De novo variants in CELF2 that disrupt the nuclear localization signal cause
developmental and epileptic encephalopathy. Hum Mutat. 2021;42(1):66-76.

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Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y,
Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M,
Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T,
Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F,
Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A,
Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi
T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A,
Takata A, Miyake N, Mizuguchi T, Matsumoto N. Efficient detection of copy-number
variations using exome data: Batch- and sex-based analyses. Hum Mutat. 2021;42(1):5065.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F,Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T,
Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y,
Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi
H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A,
Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A,
Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S,
Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E,
Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H,
Matsumoto N. Prenatal clinical manifestations in individuals with COL4A1/2 variants. J
Med Genet. 2021;58(8):505-13.
Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino
K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S,
Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N, Saitsu H.
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential
for brain development in humans and mice. Nat Commun. 2021;12(1):1-17.
Miyake N, Heydari S, Garshasbi M, Saitoh S, Nasiri J, Hamanaka K, Takata A, Matsumoto N,
Beheshti FH, Chaleshtori ARS. The identification of two pathogenic variants in a family withmild and severe forms of developmental delay. J Hum Genet. 2021;66(4):445-8.
Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam
M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H,
Miyake N, Matsumoto N. Novel EXOSC9 variants cause pontocerebellar hypoplasia type1D with spinal motor neuronopathy and cerebellar atrophy. J Hum Genet. 2021;66(4):4017.
Takata A, Hamanaka K, Matsumoto N. Refinement of the clinical variant interpretation
framework by statistical evidence and machine learning. Med. 2021;2(5):611-32. e9.
Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K,
Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S,

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Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N. Gain-of-

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Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial andBrain Abnormalities. Am J Hum Genet. 2020;106(1):13-25.
Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S,
Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N. Hemizygous FLNA variant in Westsyndrome without periventricular nodular heterotopia. Hum Genome Var. 2020;7(1):43.
Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A,
Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A,
Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata
A, Miyake N, Matsumoto N. De Novo Truncating Variants in the Last Exon of SEMA6B Cause
Progressive Myoclonic Epilepsy. Am J Hum Genet. 2020;106(4):549-58.
Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T,
Miyatake S, Miyake N, Matsumoto N. Hemorrhagic stroke and renovascular hypertension
with Grange syndrome arising from a novel pathogenic variant in YY1AP1. J Hum Genet.
2019;64(9):885-90.
Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola
D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T,
Matsumoto N. Primary immunodeficiency with chronic enteropathy and developmental
delay in a boy arising from a novel homozygous RIPK1 variant. J Hum Genet.
2019;64(9):955-60.
Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T,
Takata A, Miyake N, Mitsuhashi S, Matsumoto N. Recurrent NUS1 canonical splice donorsite mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis a case report. Bmc Neurol. 2019;19(1):1-7.
Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F,
Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A,
Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N. Comprehensive genetic
analysis of 57 families with clinically suspected Cornelia de Lange syndrome. J Hum Genet.
2019;64(10):967-78.
Mukai J, Cannavo E, Crabtree GW, Sun Z, Diamantopoulou A, Thakur P, Chang CY, Cai Y,
Lomvardas S, Takata A, Xu B, Gogos JA. Recapitulation and Reversal of SchizophreniaRelated Phenotypes in Setd1a-Deficient Mice. Neuron. 2019;104(3):471-87 e12.
Alkanaq AN, Hamanaka K, Sekiguchi F, Taguri M, Takata A, Miyake N, Miyatake S, Mizuguchi
T, Matsumoto N. Comparison of mitochondrial DNA variants detection using short- andlong-read sequencing. J Hum Genet. 2019;64(11):1107-16.
Okamoto N, Takata A, Miyake N, Matsumoto N. RALA mutation in a patient with autism
spectrum disorder and Noonan syndrome-like phenotype. Congenit Anom (Kyoto).
2019;59(6):195-6.

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Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki
T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A,
Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N. De novo truncating variantsin PHF21A cause intellectual disability and craniofacial anomalies. Eur J Hum Genet.
2019;27(3):378-83.
Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T,
Miyatake S, Takata A, Miyake N, Matsumoto N. SOFT syndrome in a patient from Chile. Am
J Med Genet A. 2019;179(3):338-40.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N,
Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki
M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A,
Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi
T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K,
Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y,
Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R,
Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N.
Comprehensive analysis of coding variants highlights genetic complexity in developmental
and epileptic encephalopathy. Nat Commun. 2019;10(1):2506.
Tsuchida N, Kirino Y, Soejima Y, Onodera M, Arai K, Tamura E, Ishikawa T, Kawai T, Uchiyama
T, Nomura S, Kobayashi D, Taguri M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N,
Nakajima H, Miyatake S, Matsumoto N. Haploinsufficiency of A20 caused by a novel
nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behcet's disease.
Arthritis Res Ther. 2019;21(1):1-12.
Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I,
Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita
I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K,
Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K,
Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S,
Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N. Genetic
landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. J Med
Genet. 2019;56(6):396-407.
Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M,
Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M,
Kameyama S, Saitsu H, Matsumoto N. Pathogenic variants of DYNC2H1, KIAA0556, andPTPN11 associated with hypothalamic hamartoma. Neurology. 2019;93(3):e237-e51.
Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita
A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H,
Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto

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N. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development:
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bioinformatics consideration. Hum Mol Genet. 2019;28(14):2319-29.
Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN,
Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M,
Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N. RNA sequencing
solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline
myopathy. Genet Med. 2019;21(7):1629-38.
Takata A. Estimating contribution of rare non-coding variants to neuropsychiatric disorders.
Psychiatry Clin Neurosci. 2019;73(1):2-10.
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP,
Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA,
Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H,
Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K,
Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M,
McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, AbdelSalam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox
H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y,
Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S,
Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Genetic abnormalities in a large cohortof Coffin-Siris syndrome patients. J Hum Genet. 2019;64(12):1173-86.
Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S,
Matsumoto N. A novel de novo frameshift variant in SETD1B causes epilepsy. J Hum Genet.
2019;64(8):821-7.
Mizuguchi T, Nakashima M, Moey LH, Ch'ng GS, Khoo TB, Mitsuhashi S, Miyatake S, Takata
A, Miyake N, Saitsu H, Matsumoto N. A novel homozygous truncating variant of NECAP1in early infantile epileptic encephalopathy: the second case report of EIEE21. J Hum Genet.
2019;64(4):347-50.
Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S,
Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N. PRUNE1-related disorder:
Expanding the clinical spectrum. Clin Genet. 2018;94(3-4):362-7.
Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi
T, Matsumoto N. A novel SLC9A1 mutation causes cerebellar ataxia. J Hum Genet.
2018;63(10):1049-54.
Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A,
Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL,
Matsumoto N. Novel SUZ12 mutations in Weaver-like syndrome. Clin Genet.
2018;94(5):461-6.
Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata

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A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A. A novel missense SNAP25b

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mutation in two affected siblings from an Israeli family showing seizures and cerebellar
ataxia. J Hum Genet. 2018;63(5):673-6.
Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake
S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N. Novel recessive
mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. J Hum Genet.
2018;63(3):263-70.
Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu
T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM,
Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Hubshman MW, Orenstein N, Marom D,
Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N,
Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Detection of copy number variations inepilepsy using exome data. Clinical Genetics. 2018;93(3):577-87.
Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A,
Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto
N. A novel GFI1B mutation at the first zinc finger domain causes congenital
macrothrombocytopenia. Brit J Haematol. 2018;181(6):843-7.
Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A,
Miyake N, Saitsu H, Matsumoto N. Recurrent SCN3A p.Ile875Thr variant in patients withpolymicrogyria. Ann Neurol. 2018;84(1):159-61.
Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T,
Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N,
Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M,
Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J,
Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M,
Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N. Integrative Analyses of De Novo
Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Cell Rep.
2018;22(3):734-47.
Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S,
Mizuguchi T, Matsumoto N. A novel mutation in SLC1A3 causes episodic ataxia. J Hum
Genet. 2018;63(2):207-11.
Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng
GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima
H, Saitsu H, Matsumoto N. Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic
encephalopathy. Clin Genet. 2018;93(2):266-74.
Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama
K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap
MS, Lerman-Sagie T, Matsumoto N. Expanding the phenotype of IBA57 mutations: related8leukodystrophy can remain asymptomatic. J Hum Genet. 2018;63(12):1223-9.
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Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu
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