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Research | 11 January 2021 | Open
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
- Yoko Takagi
- , Kenichiro Miura
- , Tomoo Yabuuchi
- , Naoto Kaneko
- , Kiyonobu Ishizuka
- , Mariko Takei
- , Chikage Yajima
- , Yuka Ikeuchi
- , Yasuko Kobayashi
- , Takumi Takizawa
- , Masataka Hisano
- , Yoshinori Tsurusaki
- , Naomichi Matsumoto
- & Motoshi Hattori
Scientific Reports 11 , 1–7

Rights & permissionsfor article Any modality of renal replacement therapy can be a treatment option for Joubert syndrome . Opens in a new window.
Amendments and Corrections | 14 January 2016
Erratum: Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals
- Xiaoxi Liu
- , Minae Kawashima
- , Taku Miyagawa
- , Takeshi Otowa
- , Khun Zaw Latt
- , Myo Thiri
- , Hisami Nishida
- , Toshiro Sugiyama
- , Yoshinori Tsurusaki
- , Naomichi Matsumoto
- , Akihiko Mabuchi
- , Nobumasa Kato
- , Katsushi Tokunaga
- & Tsukasa Sasaki
Human Genome Variation 3 , 1–1

Rights & permissionsfor article Erratum: Novel rare variations of the oxytocin receptor (<i>OXTR</i>) gene in autism spectrum disorder individuals . 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 | 4 February 2020 | Open
Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome
- Nao Takizaki
- , Yoshinori Tsurusaki
- , Kaoru Katsumata
- , Yumi Enomoto
- , Hiroaki Murakami
- , Koji Muroya
- , Hiroshi Ishikawa
- , Noriko Aida
- , Gen Nishimura
- & Kenji Kurosawa
Human Genome Variation 7 , 1–3

Rights & permissionsfor article Novel <i>CUL7</i> biallelic mutations alter the skeletal phenotype of 3M syndrome . Opens in a new window.
Research | 21 October 2019 | Open
Novel USP9X variants in two patients with X-linked intellectual disability
- Yoshinori Tsurusaki
- , Yukiko Kuroda
- , Yasuko Yamanouchi
- , Eisuke Kondo
- , Kazunobu Ouchi
- , Yuichi Kimura
- , Yumi Enomoto
- , Noriko Aida
- , Mitsuo Masuno
- & Kenji Kurosawa
Human Genome Variation 6 , 1–3

Rights & permissionsfor article Novel <i>USP9X</i> variants in two patients with X-linked intellectual disability . Opens in a new window.
Research | 26 August 2019 | Open
A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
- Ikuko Ohashi
- , Yumi Enomoto
- , Takuya Naruto
- , Yoshinori Tsurusaki
- , Yukiko Kuroda
- , Hiroshi Ishikawa
- , Makiko Ohyama
- , Noriko Aida
- , Gen Nishimura
- & Kenji Kurosawa
Human Genome Variation 6 , 1–4

Rights & permissionsfor article A severe form of Ellis-van Creveld syndrome caused by novel mutations in <i>EVC2</i> . Opens in a new window.
Research | 26 April 2019 | Open
Discordant phenotype caused by CASK mutation in siblings with NF1
- Hiroaki Murakami
- , Yuichi Kimura
- , Yumi Enomoto
- , Yoshinori Tsurusaki
- , Moe Akahira-Azuma
- , Yukiko Kuroda
- , Megumi Tsuji
- , Tomohide Goto
- & Kenji Kurosawa
Human Genome Variation 6 , 1–4

Rights & permissionsfor article Discordant phenotype caused by <i>CASK</i> mutation in siblings with <i>NF1</i> . Opens in a new window.
Research | 29 March 2018 | Open
Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome
Human Genome Variation 5 , 1–3

Rights & permissionsfor article Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome . Opens in a new window.
Research | 24 April 2018 | Open
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
- Yota Sato
- , Jun Shibasaki
- , Noriko Aida
- , Kazuya Hiiragi
- , Yuichi Kimura
- , Moe Akahira-Azuma
- , Yumi Enomoto
- , Yoshinori Tsurusaki
- & Kenji Kurosawa
Human Genome Variation 5 , 1–4

Rights & permissionsfor article Novel <i>COL4A1</i> mutation in a fetus with early prenatal onset of schizencephaly . Opens in a new window.
Research | 20 July 2018 | Open
Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
Human Genome Variation 5 , 1–3

Rights & permissionsfor article Nonsyndromic intellectual disability with novel heterozygous <i>SCN2A</i> mutation and epilepsy . 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 | 8 June 2018 | Open
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction
- Shion Hayashi
- , Takayuki Yokoi
- , Chihiro Hatano
- , Yumi Enomoto
- , Yoshinori Tsurusaki
- , Takuya Naruto
- , Masahisa Kobayashi
- , Hiroyuki Ida
- & Kenji Kurosawa
Human Genome Variation 5 , 1–4

Rights & permissionsfor article Biallelic mutations of <i>EGFR</i> in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction . Opens in a new window.
Research | 8 June 2017 | Open
A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
- Yoshinori Tsurusaki
- , Ikuko Ohashi
- , Yumi Enomoto
- , Takuya Naruto
- , Jun Mitsui
- , Noriko Aida
- & Kenji Kurosawa
Human Genome Variation 4 , 1–4

Rights & permissionsfor article A novel <i>UBE2A</i> mutation causes X-linked intellectual disability type Nascimento . 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 | 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 | 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 | 2 June 2016
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations
- Mio Hamatani
- , Naoto Jingami
- , Yoshinori Tsurusaki
- , Shino Shimada
- , Keiko Shimojima
- , Megumi Asada-Utsugi
- , Kenji Yoshinaga
- , Norihito Uemura
- , Hirofumi Yamashita
- , Kengo Uemura
- , Ryosuke Takahashi
- , Naomichi Matsumoto
- & Toshiyuki Yamamoto
Journal of Human Genetics 61 , 899–902

Rights & permissionsfor article The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous <i>AARS2</i> mutations . 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 | 30 July 2015 | Open
Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals
- Xiaoxi Liu
- , Minae Kawashima
- , Taku Miyagawa
- , Takeshi Otowa
- , Khun Zaw Latt
- , Myo Thiri
- , Hisami Nishida
- , Toshiro Sugiyama
- , Yoshinori Tsurusaki
- , Naomichi Matsumoto
- , Akihiko Mabuchi
- , Katsushi Tokunaga
- & Tsukasa Sasaki
Human Genome Variation 2 , 1–5

Rights & permissionsfor article Novel rare variations of the oxytocin receptor (<i>OXTR</i>) gene in autism spectrum disorder individuals . 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 | 7 August 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
- Hirotomo Saitsu
- , Jun Tohyama
- , Tom Walsh
- , Mitsuhiro Kato
- , Yu Kobayashi
- , Ming Lee
- , Yoshinori Tsurusaki
- , Noriko Miyake
- , Yu-ichi Goto
- , Ichizo Nishino
- , Akira Ohtake
- , Mary-Claire King
- & Naomichi Matsumoto
Journal of Human Genetics 59 , 581–583

Rights & permissionsfor article A girl with West syndrome and autistic features harboring a <i>de novo TBL1XR1</i> mutation . Opens in a new window.
Correspondence | 11 September 2014 | Open
‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing
Journal of Human Genetics 59 , 589–590

Rights & permissionsfor article ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing . 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.
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 | 2 February 2012
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS
- Yukiko Kondo
- , Hirotomo Saitsu
- , Toshinobu Miyamoto
- , Kiyomi Nishiyama
- , Yoshinori Tsurusaki
- , Hiroshi Doi
- , Noriko Miyake
- , Na-Kyung Ryoo
- , Jeong Hun Kim
- , Young Suk Yu
- & Naomichi Matsumoto
Journal of Human Genetics 57 , 197–201

Rights & permissionsfor article A family of oculofaciocardiodental syndrome (OFCD) with a novel <i>BCOR</i> mutation and genomic rearrangements involving <i>NHS</i> . 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 | 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 | 18 March 2012
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
- Yoshinori Tsurusaki
- , Nobuhiko Okamoto
- , Hirofumi Ohashi
- , Tomoki Kosho
- , Yoko Imai
- , Yumiko Hibi-Ko
- , Tadashi Kaname
- , Kenji Naritomi
- , Hiroshi Kawame
- , Keiko Wakui
- , Yoshimitsu Fukushima
- , Tomomi Homma
- , Mitsuhiro Kato
- , Yoko Hiraki
- , Takanori Yamagata
- , Shoji Yano
- , Seiji Mizuno
- , Satoru Sakazume
- , Takuma Ishii
- , Toshiro Nagai
- , Masaaki Shiina
- , Kazuhiro Ogata
- , Tohru Ohta
- , Norio Niikawa
- , Satoko Miyatake
- , Ippei Okada
- , Takeshi Mizuguchi
- , Hiroshi Doi
- , Hirotomo Saitsu
- , Noriko Miyake
- & Naomichi Matsumoto
Nature Genetics 44 , 376–378

Rights & permissionsfor article Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome . 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 | 9 December 2010
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
- Akira Nishimura-Tadaki
- , Takahito Wada
- , Gul Bano
- , Karen Gough
- , Janet Warner
- , Tomoki Kosho
- , Noriko Ando
- , Haruka Hamanoue
- , Hideya Sakakibara
- , Gen Nishimura
- , Yoshinori Tsurusaki
- , Hiroshi Doi
- , Noriko Miyake
- , Keiko Wakui
- , Hirotomo Saitsu
- , Yoshimitsu Fukushima
- , Fumiki Hirahara
- & Naomichi Matsumoto
Journal of Human Genetics 56 , 156–160

Rights & permissionsfor article Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure . Opens in a new window.
Research | 2 February 2012
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
- Yuriko Yoneda
- , Hirotomo Saitsu
- , Mayumi Touyama
- , Yoshio Makita
- , Akie Miyamoto
- , Keisuke Hamada
- , Naohiro Kurotaki
- , Hiroaki Tomita
- , Kiyomi Nishiyama
- , Yoshinori Tsurusaki
- , Hiroshi Doi
- , Noriko Miyake
- , Kazuhiro Ogata
- , Kenji Naritomi
- & Naomichi Matsumoto
Journal of Human Genetics 57 , 207–211

Rights & permissionsfor article Missense mutations in the DNA-binding/dimerization domain of <i>NFIX</i> cause Sotos-like features . Opens in a new window.
Research | 17 February 2011
De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
- Hiromi Tadaki
- , Hirotomo Saitsu
- , Akira Nishimura-Tadaki
- , Tomoyuki Imagawa
- , Masako Kikuchi
- , Ryoki Hara
- , Utako Kaneko
- , Takayuki Kishi
- , Takako Miyamae
- , Noriko Miyake
- , Hiroshi Doi
- , Yoshinori Tsurusaki
- , Haruya Sakai
- , Shumpei Yokota
- & Naomichi Matsumoto
Journal of Human Genetics 56 , 343–347

Rights & permissionsfor article <i>De novo</i> 19q13.42 duplications involving <i>NLRP</i> gene cluster in a patient with systemic-onset juvenile idiopathic arthritis . Opens in a new window.
Research | 17 September 2019
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
- Futoshi Sekiguchi
- , Yoshinori Tsurusaki
- , Nobuhiko Okamoto
- , Keng Wee Teik
- , Seiji Mizuno
- , Hiroshi Suzumura
- , Bertrand Isidor
- , Winnie Peitee Ong
- , Muzhirah Haniffa
- , Susan M. White
- , Mari Matsuo
- , Kayoko Saito
- , Shubha Phadke
- , Tomoki Kosho
- , Patrick Yap
- , Manisha Goyal
- , Lorne A. Clarke
- , Rani Sachdev
- , George McGillivray
- , Richard J. Leventer
- , Chirag Patel
- , Takanori Yamagata
- , Hitoshi Osaka
- , Yoshiya Hisaeda
- , Hirofumi Ohashi
- , Kenji Shimizu
- , Keisuke Nagasaki
- , Junpei Hamada
- , Sumito Dateki
- , Takashi Sato
- , Yasutsugu Chinen
- , Tomonari Awaya
- , Takeo Kato
- , Kougoro Iwanaga
- , Masahiko Kawai
- , Takashi Matsuoka
- , Yoshikazu Shimoji
- , Tiong Yang Tan
- , Seema Kapoor
- , Nerine Gregersen
- , Massimiliano Rossi
- , Mathieu Marie-Laure
- , Lesley McGregor
- , Kimihiko Oishi
- , Lakshmi Mehta
- , Greta Gillies
- , Paul J. Lockhart
- , Kate Pope
- , Anju Shukla
- , Katta Mohan Girisha
- , Ghada M. H. Abdel-Salam
- , David Mowat
- , David Coman
- , Ok Hwa Kim
- , Marie-Pierre Cordier
- , Kate Gibson
- , Jeff Milunsky
- , Jan Liebelt
- , Helen Cox
- , Salima El Chehadeh
- , Annick Toutain
- , Ken Saida
- , Hiromi Aoi
- , Gaku Minase
- , Naomi Tsuchida
- , Kazuhiro Iwama
- , Yuri Uchiyama
- , Toshifumi Suzuki
- , Kohei Hamanaka
- , Yoshiteru Azuma
- , Atsushi Fujita
- , Eri Imagawa
- , Eriko Koshimizu
- , Atsushi Takata
- , Satomi Mitsuhashi
- , Satoko Miyatake
- , Takeshi Mizuguchi
- , Noriko Miyake
- & Naomichi Matsumoto
Journal of Human Genetics 64 , 1173–1186

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Research | 23 November 2018
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
- Kohei Hamanaka
- , Satoko Miyatake
- , Eriko Koshimizu
- , Yoshinori Tsurusaki
- , Satomi Mitsuhashi
- , Kazuhiro Iwama
- , Ahmed N. Alkanaq
- , Atsushi Fujita
- , Eri Imagawa
- , Yuri Uchiyama
- , Nozomu Tawara
- , Yukio Ando
- , Yohei Misumi
- , Mariko Okubo
- , Mitsuko Nakashima
- , Takeshi Mizuguchi
- , Atsushi Takata
- , Noriko Miyake
- , Hirotomo Saitsu
- , Aritoshi Iida
- , Ichizo Nishino
- & Naomichi Matsumoto
Genetics in Medicine 21 , 1629–1638

Rights & permissionsfor article RNA sequencing solved the most common but unrecognized <i>NEB</i> pathogenic variant in Japanese nemaline myopathy . Opens in a new window.
Research | 19 October 2015 | Open
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing
- Hirotomo Saitsu
- , Tenpei Akita
- , Jun Tohyama
- , Hadassa Goldberg-Stern
- , Yu Kobayashi
- , Roni Cohen
- , Mitsuhiro Kato
- , Chihiro Ohba
- , Satoko Miyatake
- , Yoshinori Tsurusaki
- , Mitsuko Nakashima
- , Noriko Miyake
- , Atsuo Fukuda
- & Naomichi Matsumoto
Scientific Reports 5 , 1–14

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Research | 19 November 2015 | Open
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder
- Ryota Hashimoto
- , Takanobu Nakazawa
- , Yoshinori Tsurusaki
- , Yuka Yasuda
- , Kazuki Nagayasu
- , Kensuke Matsumura
- , Hitoshi Kawashima
- , Hidenaga Yamamori
- , Michiko Fujimoto
- , Kazutaka Ohi
- , Satomi Umeda-Yano
- , Masaki Fukunaga
- , Haruo Fujino
- , Atsushi Kasai
- , Atsuko Hayata-Takano
- , Norihito Shintani
- , Masatoshi Takeda
- , Naomichi Matsumoto
- & Hitoshi Hashimoto
Journal of Human Genetics 61 , 199–206

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