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Research | 1 June 2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy
Journal of Human Genetics 65 , 921–925

Rights & permissionsfor article Identification of a deep intronic <i>POLR3A</i> variant causing inclusion of a pseudoexon derived from an <i>Alu</i> element in Pol III-related leukodystrophy . Opens in a new window.
Research | 27 April 2020
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms
Journal of Human Genetics 65 , 727–734

Rights & permissionsfor article De novo variants in <i>CUL3</i> are associated with global developmental delays with or without infantile spasms . Opens in a new window.
Amendments and Corrections | 12 January 2017 | Open
Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome
- Yuri Uchiyama
- , Mitsuko Nakashima
- , Satoshi Watanabe
- , Masakazu Miyajima
- , Masataka Taguri
- , Satoko Miyatake
- , Noriko Miyake
- , Hirotomo Saitsu
- , Hiroyuki Mishima
- , Akira Kinoshita
- , Hajime Arai
- , Ko–ichiro Yoshiura
- & Naomichi Matsumoto
Scientific Reports 7 , 1–1

Rights & permissionsfor article Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome . Opens in a new window.
Amendments and Corrections | 16 February 2017
Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
- Takeshi Mizuguchi
- , Mitsuko Nakashima
- , Mitsuhiro Kato
- , Keitaro Yamada
- , Tohru Okanishi
- , Nina Ekhilevitch
- , Hanna Mandel
- , Ayelet Eran
- , Miyuki Toyono
- , Yukio Sawaishi
- , Hirotaka Motoi
- , Masaaki Shiina
- , Kazuhiro Ogata
- , Satoko Miyatake
- , Noriko Miyake
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 62 , 587–587

Rights & permissionsfor article Erratum: <i>PARS2</i> and <i>NARS2</i> mutations in infantile-onset neurodegenerative disorder . Opens in a new window.
Amendments and Corrections | 26 October 2015
Erratum: The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
- Yoshinori Tsurusaki
- , Yasuko Kobayashi
- , Masataka Hisano
- , Shuichi Ito
- , Hiroshi Doi
- , Mitsuko Nakashima
- , Hirotomo Saitsu
- , Naomichi Matsumoto
- & Noriko Miyake
Journal of Human Genetics 60 , 651–651

Rights & permissionsfor article Erratum: The diagnostic utility of exome sequencing in Joubert syndrome and related disorders . Opens in a new window.
Research | 16 August 2019
A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly
Journal of Human Genetics 64 , 1127–1132

Rights & permissionsfor article A <i>de novo</i> variant in <i>RAC3</i> causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly . Opens in a new window.
Research | 9 January 2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21
- Takeshi Mizuguchi
- , Mitsuko Nakashima
- , Lip H. Moey
- , Gaik S. Ch’ng
- , Teik-Beng Khoo
- , Satomi Mitsuhashi
- , Satoko Miyatake
- , Atsushi Takata
- , Noriko Miyake
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 64 , 347–350

Rights & permissionsfor article A novel homozygous truncating variant of <i>NECAP1</i> in early infantile epileptic encephalopathy: the second case report of EIEE21 . Opens in a new window.
Research | 27 September 2018
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
- Kohei Hamanaka
- , Satoko Miyatake
- , Ayelet Zerem
- , Dorit Lev
- , Luba Blumkin
- , Kenji Yokochi
- , Atsushi Fujita
- , Eri Imagawa
- , Kazuhiro Iwama
- , Mitsuko Nakashima
- , Satomi Mitsuhashi
- , Takeshi Mizuguchi
- , Atsushi Takata
- , Noriko Miyake
- , Hirotomo Saitsu
- , Marjo S. van der Knaap
- , Tally Lerman-Sagie
- & Naomichi Matsumoto
Journal of Human Genetics 63 , 1223–1229

Rights & permissionsfor article Expanding the phenotype of <i>IBA57</i> mutations: related leukodystrophy can remain asymptomatic . Opens in a new window.
Research | 28 November 2018
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
- Kohei Hamanaka
- , Yuji Sugawara
- , Takeyoshi Shimoji
- , Tone Irene Nordtveit
- , Mitsuhiro Kato
- , Mitsuko Nakashima
- , Hirotomo Saitsu
- , Toshimitsu Suzuki
- , Kazuhiro Yamakawa
- , Ingvild Aukrust
- , Gunnar Houge
- , Satomi Mitsuhashi
- , Atsushi Takata
- , Kazuhiro Iwama
- , Ahmed Alkanaq
- , Atsushi Fujita
- , Eri Imagawa
- , Takeshi Mizuguchi
- , Noriko Miyake
- , Satoko Miyatake
- & Naomichi Matsumoto
European Journal of Human Genetics 27 , 378–383

Rights & permissionsfor article De novo truncating variants in <i>PHF21A</i> cause intellectual disability and craniofacial anomalies . Opens in a new window.
Research | 12 July 2018 | Open
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
Human Genome Variation 5 , 1–4

Rights & permissionsfor article A recurrent homozygous <i>NHLRC1</i> variant in siblings with Lafora disease . Opens in a new window.
Research | 6 February 2018
A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features
- Futoshi Sekiguchi
- , Jafar Nasiri
- , Maryam Sedghi
- , Mansoor Salehi
- , Majid Hosseinzadeh
- , Nobuhiko Okamoto
- , Takeshi Mizuguchi
- , Mitsuko Nakashima
- , Satoko Miyatake
- , Atsushi Takata
- , Noriko Miyake
- & Naomichi Matsumoto
Journal of Human Genetics 63 , 487–491

Rights & permissionsfor article A novel homozygous <i>DPH1</i> mutation causes intellectual disability and unique craniofacial features . Opens in a new window.
Research | 23 January 2018
Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities
Journal of Human Genetics 63 , 529–532

Rights & permissionsfor article Novel compound heterozygous <i>DPH1</i> mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities . Opens in a new window.
Research | 13 February 2018
A homozygous NOP14 variant is likely to cause recurrent pregnancy loss
- Toshifumi Suzuki
- , Mahdiyeh Behnam
- , Firooze Ronasian
- , Mansoor Salehi
- , Masaaki Shiina
- , Eriko Koshimizu
- , Atsushi Fujita
- , Futoshi Sekiguchi
- , Satoko Miyatake
- , Takeshi Mizuguchi
- , Mitsuko Nakashima
- , Kazuhiro Ogata
- , Satoru Takeda
- , Naomichi Matsumoto
- & Noriko Miyake
Journal of Human Genetics 63 , 425–430

Rights & permissionsfor article A homozygous <i>NOP14</i> variant is likely to cause recurrent pregnancy loss . Opens in a new window.
Research | 5 February 2018
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations
- Hiroshi Doi
- , Shigeru Koyano
- , Satoko Miyatake
- , Shinji Nakajima
- , Yuka Nakazawa
- , Misako Kunii
- , Atsuko Tomita-Katsumoto
- , Kayoko Oda
- , Yukie Yamaguchi
- , Ryoko Fukai
- , Shingo Ikeda
- , Rumiko Kato
- , Katsuhisa Ogata
- , Shun Kubota
- , Noriko Hayashi
- , Keita Takahashi
- , Mikiko Tada
- , Kenichi Tanaka
- , Mitsuko Nakashima
- , Yoshinori Tsurusaki
- , Noriko Miyake
- , Hirotomo Saitsu
- , Tomoo Ogi
- , Michiko Aihara
- , Hideyuki Takeuchi
- , Naomichi Matsumoto
- & Fumiaki Tanaka
Journal of Human Genetics 63 , 417–423

Rights & permissionsfor article Cerebellar ataxia-dominant phenotype in patients with <i>ERCC4</i> mutations . Opens in a new window.
Research | 19 March 2018
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy
- Sato Suzuki-Muromoto
- , Keisuke Wakusawa
- , Takuya Miyabayashi
- , Ryo Sato
- , Yukimune Okubo
- , Wakaba Endo
- , Takehiko Inui
- , Noriko Togashi
- , Atsuko Kato
- , Hiroshi Oba
- , Mitsuko Nakashima
- , Hirotomo Saitsu
- , Naomichi Matsumoto
- & Kazuhiro Haginoya
Journal of Human Genetics 63 , 749–753

Rights & permissionsfor article A case of new <i>PCDH12</i> gene variants presented as dyskinetic cerebral palsy with epilepsy . Opens in a new window.
Research | 20 July 2017
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination
- Gaku Minase
- , Satoko Miyatake
- , Shin Nabatame
- , Hiroshi Arai
- , Eriko Koshimizu
- , Takeshi Mizuguchi
- , Mitsuko Nakashima
- , Noriko Miyake
- , Hirotomo Saitsu
- , Toshinobu Miyamoto
- , Kazuo Sengoku
- & Naomichi Matsumoto
Journal of Human Genetics 62 , 997–1000

Rights & permissionsfor article An atypical case of <i>SPG56/CYP2U1</i>-related spastic paraplegia presenting with delayed myelination . Opens in a new window.
Research | 12 January 2017
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder
- Takeshi Mizuguchi
- , Mitsuko Nakashima
- , Mitsuhiro Kato
- , Keitaro Yamada
- , Tohru Okanishi
- , Nina Ekhilevitch
- , Hanna Mandel
- , Ayelet Eran
- , Miyuki Toyono
- , Yukio Sawaishi
- , Hirotaka Motoi
- , Masaaki Shiina
- , Kazuhiro Ogata
- , Satoko Miyatake
- , Noriko Miyake
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 62 , 525–529

Rights & permissionsfor article <i>PARS2</i> and <i>NARS2</i> mutations in infantile-onset neurodegenerative disorder . Opens in a new window.
Research | 28 January 2016
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures
Journal of Human Genetics 61 , 381–387

Rights & permissionsfor article <i>De novo KCNH1</i> mutations in four patients with syndromic developmental delay, hypotonia and seizures . Opens in a new window.
Research | 25 February 2016 | Open
Human genetic variation database, a reference database of genetic variations in the Japanese population
- Koichiro Higasa
- , Noriko Miyake
- , Jun Yoshimura
- , Kohji Okamura
- , Tetsuya Niihori
- , Hirotomo Saitsu
- , Koichiro Doi
- , Masakazu Shimizu
- , Kazuhiko Nakabayashi
- , Yoko Aoki
- , Yoshinori Tsurusaki
- , Shinichi Morishita
- , Takahisa Kawaguchi
- , Osuke Migita
- , Keiko Nakayama
- , Mitsuko Nakashima
- , Jun Mitsui
- , Maiko Narahara
- , Keiko Hayashi
- , Ryo Funayama
- , Daisuke Yamaguchi
- , Hiroyuki Ishiura
- , Wen-Ya Ko
- , Kenichiro Hata
- , Takeshi Nagashima
- , Ryo Yamada
- , Yoichi Matsubara
- , Akihiro Umezawa
- , Shoji Tsuji
- , Naomichi Matsumoto
- & Fumihiko Matsuda
Journal of Human Genetics 61 , 547–553

Rights & permissionsfor article Human genetic variation database, a reference database of genetic variations in the Japanese population . Opens in a new window.
Research | 18 February 2016
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations
- Kazuhiro Iwama
- , Masayuki Sasaki
- , Shinichi Hirabayashi
- , Chihiro Ohba
- , Emi Iwabuchi
- , Satoko Miyatake
- , Mitsuko Nakashima
- , Noriko Miyake
- , Shuichi Ito
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 61 , 527–531

Rights & permissionsfor article Milder progressive cerebellar atrophy caused by biallelic <i>SEPSECS</i> mutations . Opens in a new window.
Research | 2 March 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
Journal of Human Genetics 62 , 741–746

Rights & permissionsfor article <i>ANKRD11</i> variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome . Opens in a new window.
Research | 9 March 2016 | Open
Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome
- Yuri Uchiyama
- , Mitsuko Nakashima
- , Satoshi Watanabe
- , Masakazu Miyajima
- , Masataka Taguri
- , Satoko Miyatake
- , Noriko Miyake
- , Hirotomo Saitsu
- , Hiroyuki Mishima
- , Akira Kinoshita
- , Hajime Arai
- , Ko–ichiro Yoshiura
- & Naomichi Matsumoto
Scientific Reports 6 , 1–8

Rights & permissionsfor article Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic <i>GNAQ</i> mutation in Sturge–Weber syndrome . Opens in a new window.
Research | 26 May 2016
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux
Journal of Human Genetics 61 , 835–838

Rights & permissionsfor article <i>De novo MEIS2</i> mutation causes syndromic developmental delay with persistent gastro-esophageal reflux . Opens in a new window.
Research | 14 January 2016
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia
- Ryoko Fukai
- , Hirotomo Saitsu
- , Nobuhiko Okamoto
- , Yasunari Sakai
- , Aviva Fattal-Valevski
- , Shiina Masaaki
- , Yukihiro Kitai
- , Michiko Torio
- , Kanako Kojima-Ishii
- , Kenji Ihara
- , Veronika Chernuha
- , Mitsuko Nakashima
- , Satoko Miyatake
- , Fumiaki Tanaka
- , Noriko Miyake
- & Naomichi Matsumoto
Journal of Human Genetics 61 , 451–455

Rights & permissionsfor article <i>De novo</i> missense mutations in NALCN cause developmental and intellectual impairment with hypotonia . Opens in a new window.
Research | 31 March 2016
WDR45 mutations in three male patients with West syndrome
- Mitsuko Nakashima
- , Kyoko Takano
- , Yu Tsuyusaki
- , Shinsaku Yoshitomi
- , Masayuki Shimono
- , Yoshihiro Aoki
- , Mitsuhiro Kato
- , Noriko Aida
- , Takeshi Mizuguchi
- , Satoko Miyatake
- , Noriko Miyake
- , Hitoshi Osaka
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 61 , 653–661

Rights & permissionsfor article <i>WDR45</i> mutations in three male patients with West syndrome . Opens in a new window.
Research | 3 October 2013
Novel FIG4 mutations in Yunis–Varon syndrome
Journal of Human Genetics 58 , 822–824

Rights & permissionsfor article Novel <i>FIG4</i> mutations in Yunis–Varon syndrome . Opens in a new window.
Research | 5 February 2015
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation
- Misako Kunii
- , Hiroshi Doi
- , Yuichi Higashiyama
- , Chiharu Kugimoto
- , Naohisa Ueda
- , Junichi Hirata
- , Atsuko Tomita-Katsumoto
- , Mari Kashikura-Kojima
- , Shun Kubota
- , Midori Taniguchi
- , Kei Murayama
- , Mitsuko Nakashima
- , Yoshinori Tsurusaki
- , Noriko Miyake
- , Hirotomo Saitsu
- , Naomichi Matsumoto
- & Fumiaki Tanaka
Journal of Human Genetics 60 , 187–191

Rights & permissionsfor article A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous <i>TTC19</i> mutation . Opens in a new window.
Research | 16 January 2014
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2
Journal of Human Genetics 59 , 229–232

Rights & permissionsfor article A novel homozygous <i>YARS2</i> mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 . Opens in a new window.
Research | 25 June 2015
Novel compound heterozygous LIAS mutations cause glycine encephalopathy
- Yoshinori Tsurusaki
- , Ryuta Tanaka
- , Shino Shimada
- , Keiko Shimojima
- , Masaaki Shiina
- , Mitsuko Nakashima
- , Hirotomo Saitsu
- , Noriko Miyake
- , Kazuhiro Ogata
- , Toshiyuki Yamamoto
- & Naomichi Matsumoto
Journal of Human Genetics 60 , 631–635

Rights & permissionsfor article Novel compound heterozygous <i>LIAS</i> mutations cause glycine encephalopathy . Opens in a new window.
Research | 24 November 2014 | Open
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation
- Hiroshi Doi
- , Masao Ushiyama
- , Takashi Baba
- , Katsuko Tani
- , Masaaki Shiina
- , Kazuhiro Ogata
- , Satoko Miyatake
- , Yoko Fukuda-Yuzawa
- , Shoji Tsuji
- , Mitsuko Nakashima
- , Yoshinori Tsurusaki
- , Noriko Miyake
- , Hirotomo Saitsu
- , Shu-ichi Ikeda
- , Fumiaki Tanaka
- , Naomichi Matsumoto
- & Kunihiro Yoshida
Scientific Reports 4 , 1–7

Rights & permissionsfor article Late-onset spastic ataxia phenotype in a patient with a homozygous <i>DDHD2</i> mutation . Opens in a new window.
Research | 4 April 2013
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia
- Aritoshi Iida
- , Nobuhiko Okamoto
- , Noriko Miyake
- , Gen Nishimura
- , Satoshi Minami
- , Takuya Sugimoto
- , Mitsuko Nakashima
- , Yoshinori Tsurusaki
- , Hirotomo Saitsu
- , Masaaki Shiina
- , Kazuhiro Ogata
- , Shigehiko Watanabe
- , Hirofumi Ohashi
- , Naomichi Matsumoto
- & Shiro Ikegawa
Journal of Human Genetics 58 , 391–394

Rights & permissionsfor article Exome sequencing identifies a novel <i>INPPL1</i> mutation in opsismodysplasia . Opens in a new window.
Research | 17 September 2015 | Open
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome
- Eri Imagawa
- , Ryoko Fukai
- , Mahdiyeh Behnam
- , Manisha Goyal
- , Narges Nouri
- , Mitsuko Nakashima
- , Yoshinori Tsurusaki
- , Hirotomo Saitsu
- , Mansour Salehi
- , Seema Kapoor
- , Fumiaki Tanaka
- , Noriko Miyake
- & Naomichi Matsumoto
Human Genome Variation 2 , 1–3

Rights & permissionsfor article Two novel homozygous <i>RAB3GAP1</i> mutations cause Warburg micro syndrome . Opens in a new window.
Research | 26 June 2014
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss
- Mitsuko Nakashima
- , Kyoko Takano
- , Hitoshi Osaka
- , Noriko Aida
- , Yoshinori Tsurusaki
- , Noriko Miyake
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 59 , 471–474

Rights & permissionsfor article Causative novel <i>PNKP</i> mutations and concomitant <i>PCDH15</i> mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss . Opens in a new window.
Research | 9 October 2014
Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing
Journal of Human Genetics 59 , 649–654

Rights & permissionsfor article Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing . Opens in a new window.
Research | 31 July 2014 | Open
A novel PITX2 mutation causing iris hypoplasia
Human Genome Variation 1 , 1–3

Rights & permissionsfor article A novel <i>PITX2</i> mutation causing iris hypoplasia . Opens in a new window.
Research | 13 March 2014
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain
- Chihiro Ohba
- , Shin Nabatame
- , Yoshitaka Iijima
- , Kiyomi Nishiyama
- , Yoshinori Tsurusaki
- , Mitsuko Nakashima
- , Noriko Miyake
- , Fumiaki Tanaka
- , Keiichi Ozono
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 59 , 292–295

Rights & permissionsfor article <i>De novo WDR45</i> mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain . Opens in a new window.
Research | 22 January 2015
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach
- Satoko Miyatake
- , Eriko Koshimizu
- , Atsushi Fujita
- , Ryoko Fukai
- , Eri Imagawa
- , Chihiro Ohba
- , Ichiro Kuki
- , Megumi Nukui
- , Atsushi Araki
- , Yoshio Makita
- , Tsutomu Ogata
- , Mitsuko Nakashima
- , Yoshinori Tsurusaki
- , Noriko Miyake
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 60 , 175–182

Rights & permissionsfor article Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach . Opens in a new window.
Research | 10 September 2015
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance
- Chihiro Ohba
- , Kazuhiro Haginoya
- , Hitoshi Osaka
- , Kazuo Kubota
- , Akihiko Ishiyama
- , Takuya Hiraide
- , Hirofumi Komaki
- , Masayuki Sasaki
- , Satoko Miyatake
- , Mitsuko Nakashima
- , Yoshinori Tsurusaki
- , Noriko Miyake
- , Fumiaki Tanaka
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 60 , 739–742

Rights & permissionsfor article <i>De novo KIF1A</i> mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance . Opens in a new window.
Research | 4 December 2014
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy
- Hirofumi Kodera
- , Hitoshi Osaka
- , Mizue Iai
- , Noriko Aida
- , Akio Yamashita
- , Yoshinori Tsurusaki
- , Mitsuko Nakashima
- , Noriko Miyake
- , Hirotomo Saitsu
- & Naomichi Matsumoto
Journal of Human Genetics 60 , 97–101

Rights & permissionsfor article Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy . Opens in a new window.
Research | 19 February 2015
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
- Ryoko Fukai
- , Yoko Hiraki
- , Hiroko Yofune
- , Yoshinori Tsurusaki
- , Mitsuko Nakashima
- , Hirotomo Saitsu
- , Fumiaki Tanaka
- , Noriko Miyake
- & Naomichi Matsumoto
Journal of Human Genetics 60 , 277–279

Rights & permissionsfor article A case of autism spectrum disorder arising from a <i>de novo</i> missense mutation in <i>POGZ</i> . Opens in a new window.
13 May 2015
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
- Hirotomo Saitsu
- , Ryoko Fukai
- , Bruria Ben-Zeev
- , Yasunari Sakai
- , Masakazu Mimaki
- , Nobuhiko Okamoto
- , Yasuhiro Suzuki
- , Yukifumi Monden
- , Hiroshi Saito
- , Barak Tziperman
- , Michiko Torio
- , Satoshi Akamine
- , Nagahisa Takahashi
- , Hitoshi Osaka
- , Takanori Yamagata
- , Kazuyuki Nakamura
- , Yoshinori Tsurusaki
- , Mitsuko Nakashima
- , Noriko Miyake
- , Masaaki Shiina
- , Kazuhiro Ogata
- & Naomichi Matsumoto
European Journal of Human Genetics 24 , 129–134

Rights & permissionsfor article Phenotypic spectrum of <i>GNAO1</i> variants: epileptic encephalopathy to involuntary movements with severe developmental delay . Opens in a new window.
Research | 16 October 2014
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly
Journal of Human Genetics 59 , 687–690

Rights & permissionsfor article Compound heterozygous <i>BRAT1</i> mutations cause familial Ohtahara syndrome with hypertonia and microcephaly . Opens in a new window.
29 January 2015
SPTAN1 encephalopathy: distinct phenotypes and genotypes
- Jun Tohyama
- , Mitsuko Nakashima
- , Shin Nabatame
- , Ch'ng Gaik-Siew
- , Rie Miyata
- , Zvonka Rener-Primec
- , Mitsuhiro Kato
- , Naomichi Matsumoto
- & Hirotomo Saitsu
Journal of Human Genetics 60 , 167–173

Rights & permissionsfor article <i>SPTAN1</i> encephalopathy: distinct phenotypes and genotypes . Opens in a new window.
Research | 6 November 2014
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome
- Mitsuko Nakashima
- , Masakazu Miyajima
- , Hidenori Sugano
- , Yasushi Iimura
- , Mitsuhiro Kato
- , Yoshinori Tsurusaki
- , Noriko Miyake
- , Hirotomo Saitsu
- , Hajime Arai
- & Naomichi Matsumoto
Journal of Human Genetics 59 , 691–693

Rights & permissionsfor article The somatic <i>GNAQ</i> mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome . Opens in a new window.
Research | 15 August 2010
A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population
- Mitsuko Nakashima
- , Suyoun Chung
- , Atsushi Takahashi
- , Naoyuki Kamatani
- , Takahisa Kawaguchi
- , Tatsuhiko Tsunoda
- , Naoya Hosono
- , Michiaki Kubo
- , Yusuke Nakamura
- & Hitoshi Zembutsu
Nature Genetics 42 , 768–771

Rights & permissionsfor article A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population . Opens in a new window.
Research | 1 January 2008
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family
- Mitsuko Nakashima
- , Motoi Nakano
- , Akiyoshi Hirano
- , Tatsuya Kishino
- , Shinji Kondoh
- , Nobutomo Miwa
- , Norio Niikawa
- & Koh-ichiro Yoshiura
Journal of Human Genetics 53 , 34–41

Rights & permissionsfor article Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family . Opens in a new window.
Research | 24 February 2013
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
- Hirotomo Saitsu
- , Taki Nishimura
- , Kazuhiro Muramatsu
- , Hirofumi Kodera
- , Satoko Kumada
- , Kenji Sugai
- , Emi Kasai-Yoshida
- , Noriko Sawaura
- , Hiroya Nishida
- , Ai Hoshino
- , Fukiko Ryujin
- , Seiichiro Yoshioka
- , Kiyomi Nishiyama
- , Yukiko Kondo
- , Yoshinori Tsurusaki
- , Mitsuko Nakashima
- , Noriko Miyake
- , Hirokazu Arakawa
- , Mitsuhiro Kato
- , Noboru Mizushima
- & Naomichi Matsumoto
Nature Genetics 45 , 445–449

Rights & permissionsfor article <i>De novo</i> mutations in the autophagy gene <i>WDR45</i> cause static encephalopathy of childhood with neurodegeneration in adulthood . Opens in a new window.
Research | 15 January 2010
A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
- Masayoshi Tsuda
- , Takahiro Yamada
- , Tadashi Mikoya
- , Izumi Sogabe
- , Mitsuko Nakashima
- , Hisanori Minakami
- , Tatsuya Kishino
- , Akira Kinoshita
- , Norio Niikawa
- , Akiyoshi Hirano
- & Koh-ichiro Yoshiura
Journal of Human Genetics 55 , 124–126

Rights & permissionsfor article A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12 . Opens in a new window.
Research | 4 October 2012
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
- Yoshinori Tsurusaki
- , Yasuko Kobayashi
- , Masataka Hisano
- , Shuichi Ito
- , Hiroshi Doi
- , Mitsuko Nakashima
- , Hirotomo Saitsu
- , Naomichi Matsumoto
- & Noriko Miyake
Journal of Human Genetics 58 , 113–115

Rights & permissionsfor article The diagnostic utility of exome sequencing in Joubert syndrome and related disorders . Opens in a new window.
Research | 7 June 2019 | Open
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
- Atsushi Takata
- , Mitsuko Nakashima
- , Hirotomo Saitsu
- , Takeshi Mizuguchi
- , Satomi Mitsuhashi
- , Yukitoshi Takahashi
- , Nobuhiko Okamoto
- , Hitoshi Osaka
- , Kazuyuki Nakamura
- , Jun Tohyama
- , Kazuhiro Haginoya
- , Saoko Takeshita
- , Ichiro Kuki
- , Tohru Okanishi
- , Tomohide Goto
- , Masayuki Sasaki
- , Yasunari Sakai
- , Noriko Miyake
- , Satoko Miyatake
- , Naomi Tsuchida
- , Kazuhiro Iwama
- , Gaku Minase
- , Futoshi Sekiguchi
- , Atsushi Fujita
- , Eri Imagawa
- , Eriko Koshimizu
- , Yuri Uchiyama
- , Kohei Hamanaka
- , Chihiro Ohba
- , Toshiyuki Itai
- , Hiromi Aoi
- , Ken Saida
- , Tomohiro Sakaguchi
- , Kouhei Den
- , Rina Takahashi
- , Hiroko Ikeda
- , Tokito Yamaguchi
- , Kazuki Tsukamoto
- , Shinsaku Yoshitomi
- , Taikan Oboshi
- , Katsumi Imai
- , Tomokazu Kimizu
- , Yu Kobayashi
- , Masaya Kubota
- , Hirofumi Kashii
- , Shimpei Baba
- , Mizue Iai
- , Ryutaro Kira
- , Munetsugu Hara
- , Masayasu Ohta
- , Yohane Miyata
- , Rie Miyata
- , Jun-ichi Takanashi
- , Jun Matsui
- , Kenji Yokochi
- , Masayuki Shimono
- , Masano Amamoto
- , Rumiko Takayama
- , Shinichi Hirabayashi
- , Kaori Aiba
- , Hiroshi Matsumoto
- , Shin Nabatame
- , Takashi Shiihara
- , Mitsuhiro Kato
- & Naomichi Matsumoto
Nature Communications 10 , 1–14

Rights & permissionsfor article Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy . Opens in a new window.

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