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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.
Research | 22 February 2019
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
Journal of Human Genetics 64 , 467–471

Rights & permissionsfor article Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome . Opens in a new window.
Research | 2 February 2018 | Open
Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder
- Yoshiro Morimoto
- , Mihoko Shimada-Sugimoto
- , Takeshi Otowa
- , Shintaro Yoshida
- , Akira Kinoshita
- , Hiroyuki Mishima
- , Naohiro Yamaguchi
- , Takatoshi Mori
- , Akira Imamura
- , Hiroki Ozawa
- , Naohiro Kurotaki
- , Christiane Ziegler
- , Katharina Domschke
- , Jürgen Deckert
- , Tadashi Umekage
- , Mamoru Tochigi
- , Hisanobu Kaiya
- , Yuji Okazaki
- , Katsushi Tokunaga
- , Tsukasa Sasaki
- , Koh-ichiro Yoshiura
- & Shinji Ono
Translational Psychiatry 8 , 1–8

Rights & permissionsfor article Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder . Opens in a new window.
Research | 27 July 2017 | Open
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease
- Yoshiro Morimoto
- , Shinji Ono
- , Akira Imamura
- , Yuji Okazaki
- , Akira Kinoshita
- , Hiroyuki Mishima
- , Hideyuki Nakane
- , Hiroki Ozawa
- , Koh-ichiro Yoshiura
- & Naohiro Kurotaki
Human Genome Variation 4 , 1–6

Rights & permissionsfor article Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease . Opens in a new window.
Research | 26 December 2017
Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing
- Makiko Horai
- , Hiroyuki Mishima
- , Chisa Hayashida
- , Akira Kinoshita
- , Yoshibumi Nakane
- , Tatsuki Matsuo
- , Kazuto Tsuruda
- , Katsunori Yanagihara
- , Shinya Sato
- , Daisuke Imanishi
- , Yoshitaka Imaizumi
- , Tomoko Hata
- , Yasushi Miyazaki
- & Koh-ichiro Yoshiura
Journal of Human Genetics 63 , 357–363

Rights & permissionsfor article Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing . Opens in a new window.
Research | 9 November 2017 | Open
Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism
- Chisei Satoh
- , Ryuta Maekawa
- , Akira Kinoshita
- , Hiroyuki Mishima
- , Michiko Doi
- , Mutsuko Miyazaki
- , Masafumi Fukuda
- , Haruo Takahashi
- , Tatsuro Kondoh
- & Koh-ichiro Yoshiura
Human Genome Variation 4 , 1–4

Rights & permissionsfor article Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism . 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 GNAQ mutation in Sturge–Weber syndrome . Opens in a new window.
Research | 16 July 2015
Germline mutations causing familial lung cancer
- Koichi Tomoshige
- , Keitaro Matsumoto
- , Tomoshi Tsuchiya
- , Masahiro Oikawa
- , Takuro Miyazaki
- , Naoya Yamasaki
- , Hiroyuki Mishima
- , Akira Kinoshita
- , Toru Kubo
- , Kiyoyasu Fukushima
- , Koh-ichiro Yoshiura
- & Takeshi Nagayasu
Journal of Human Genetics 60 , 597–603

Rights & permissionsfor article Germline mutations causing familial lung cancer . Opens in a new window.
Research | 13 February 2014
Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US
- Shuhei Abe
- , Kiyonori Miura
- , Akira Kinoshita
- , Hiroyuki Mishima
- , Shoko Miura
- , Kentaro Yamasaki
- , Yuri Hasegawa
- , Ai Higashijima
- , Ozora Jo
- , Atsushi Yoshida
- , Masanori Kaneuchi
- , Koh-ichiro Yoshiura
- & Hideaki Masuzaki
Journal of Human Genetics 59 , 251–255

Rights & permissionsfor article Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US . Opens in a new window.
Amendments and Corrections | 25 June 2012
Erratum: Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- Shinji Ono
- , Koh-ichiro Yoshiura
- , Akira Kinoshita
- , Taeko Kikuchi
- , Yoshibumi Nakane
- , Nobumasa Kato
- , Miyuki Sadamatsu
- , Tohru Konishi
- , Shinichiro Nagamitsu
- , Masato Matsuura
- , Ayako Yasuda
- , Maki Komine
- , Kazuaki Kanai
- , Takeshi Inoue
- , Toshio Osamura
- , Kayoko Saito
- , Shinichi Hirose
- , Hiroyoshi Koide
- , Hiroaki Tomita
- , Hiroki Ozawa
- , Norio Niikawa
- & Naohiro Kurotaki
Journal of Human Genetics 57 , 399–399

Rights & permissionsfor article Erratum: Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions . Opens in a new window.
Research | 10 February 2011
Epidemiology of human papillomavirus genotypes in pregnant Japanese women
- Kentaro Yamasaki
- , Kiyonori Miura
- , Takako Shimada
- , Shoko Miura
- , Shuhei Abe
- , Makoto Murakami
- , Tetsuro Sameshima
- , Akira Fujishita
- , Kouhei Kotera
- , Akira Kinoshita
- , Koh-ichiro Yoshiura
- & Hideaki Masuzaki
Journal of Human Genetics 56 , 313–315

Rights & permissionsfor article Epidemiology of human papillomavirus genotypes in pregnant Japanese women . Opens in a new window.
Research | 4 July 2004
Heterozygous TGFBR2 mutations in Marfan syndrome
- Takeshi Mizuguchi
- , Gwenaëlle Collod-Beroud
- , Takushi Akiyama
- , Marianne Abifadel
- , Naoki Harada
- , Takayuki Morisaki
- , Delphine Allard
- , Mathilde Varret
- , Mireille Claustres
- , Hiroko Morisaki
- , Makoto Ihara
- , Akira Kinoshita
- , Koh-ichiro Yoshiura
- , Claudine Junien
- , Tadashi Kajii
- , Guillaume Jondeau
- , Tohru Ohta
- , Tatsuya Kishino
- , Yoichi Furukawa
- , Yusuke Nakamura
- , Norio Niikawa
- , Catherine Boileau
- & Naomichi Matsumoto
Nature Genetics 36 , 855–860

Rights & permissionsfor article Heterozygous TGFBR2 mutations in Marfan syndrome . Opens in a new window.
Research | 8 March 2012
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- Shinji Ono
- , Koh-ichiro Yoshiura
- , Akira Kinoshita
- , Taeko Kikuchi
- , Yoshibumi Nakane
- , Nobumasa Kato
- , Miyuki Sadamatsu
- , Tohru Konishi
- , Shinichiro Nagamitsu
- , Masato Matsuura
- , Ayako Yasuda
- , Maki Komine
- , Kazuaki Kanai
- , Takeshi Inoue
- , Toshio Osamura
- , Kayoko Saito
- , Shinichi Hirose
- , Hiroyoshi Koide
- , Hiroaki Tomita
- , Hiroki Ozawa
- , Norio Niikawa
- & Naohiro Kurotaki
Journal of Human Genetics 57 , 338–341

Rights & permissionsfor article Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions . Opens in a new window.
Research | 1 July 2004
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
- Junichi Kamimura
- , Keiko Wakui
- , Hiroko Kadowaki
- , Yukio Watanabe
- , Kazuaki Miyake
- , Naoki Harada
- , Michiyo Sakamoto
- , Akira Kinoshita
- , Koh-ichiro Yoshiura
- , Tohru Ohta
- , Tatsuya Kishino
- , Mutsuo Ishikawa
- , Masato Kasuga
- , Yoshimitsu Fukushima
- , Norio Niikawa
- & Naomichi Matsumoto
Journal of Human Genetics 49 , 360–365

Rights & permissionsfor article The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus . Opens in a new window.
Research | 18 March 2002
Haploinsufficiency of NSD1 causes Sotos syndrome
- Naohiro Kurotaki
- , Kiyoshi Imaizumi
- , Naoki Harada
- , Mitsuo Masuno
- , Tatsuro Kondoh
- , Toshiro Nagai
- , Hirofumi Ohashi
- , Kenji Naritomi
- , Masato Tsukahara
- , Yoshio Makita
- , Tateo Sugimoto
- , Tohru Sonoda
- , Tomoko Hasegawa
- , Yasuaki Chinen
- , Hiro-aki Tomita
- , Akira Kinoshita
- , Tsuyoshi Mizuguchi
- , Koh-ichiro Yoshiura
- , Tohru Ohta
- , Tatsuya Kishino
- , Yoshimitsu Fukushima
- , Norio Niikawa
- & Naomichi Matsumoto
Nature Genetics 30 , 365–366

Rights & permissionsfor article Haploinsufficiency of NSD1 causes Sotos syndrome . 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 | 10 February 2011
Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders
- Kiyonori Miura
- , Ai Higashijima
- , Takako Shimada
- , Shoko Miura
- , Kentaro Yamasaki
- , Shuhei Abe
- , Ozora Jo
- , Akira Kinoshita
- , Atsushi Yoshida
- , Shuichiro Yoshimura
- , Norio Niikawa
- , Koh-ichiro Yoshiura
- & Hideaki Masuzaki
Journal of Human Genetics 56 , 296–299

Rights & permissionsfor article Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders . Opens in a new window.
Research | 29 January 2010
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco–Sjögren syndrome
- Taichi Takahata
- , Koki Yamada
- , Yoshihisa Yamada
- , Shinji Ono
- , Akira Kinoshita
- , Tetsuo Matsuzaka
- , Koh-ichiro Yoshiura
- & Takashi Kitaoka
Journal of Human Genetics 55 , 142–146

Rights & permissionsfor article Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco–Sjögren syndrome . Opens in a new window.
Research | 1 September 2000
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
- Akira Kinoshita
- , Takashi Saito
- , Hiro-aki Tomita
- , Yoshio Makita
- , Kunihiro Yoshida
- , Mohsen Ghadami
- , Koki Yamada
- , Shinji Kondo
- , Shiro Ikegawa
- , Gen Nishimura
- , Yoshimitsu Fukushima
- , Tadashi Nakagomi
- , Haruki Saito
- , Takeo Sugimoto
- , Makoto Kamegaya
- , Kenji Hisa
- , Jeffrey C. Murray
- , Naoyuki Taniguchi
- , Norio Niikawa
- & Koh-ichiro Yoshiura
Nature Genetics 26 , 19–20

Rights & permissionsfor article Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease . Opens in a new window.
Research | 7 March 2013
Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer
- Shuhei Abe
- , Kiyonori Miura
- , Akira Kinoshita
- , Hiroyuki Mishima
- , Shoko Miura
- , Kentaro Yamasaki
- , Yuri Hasegawa
- , Ai Higashijima
- , Ozora Jo
- , Kensaku Sasaki
- , Atsushi Yoshida
- , Koh-ichiro Yoshiura
- & Hideaki Masuzaki
Journal of Human Genetics 58 , 250–253

Rights & permissionsfor article Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer . Opens in a new window.
Research | 3 April 2009
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Hideo Kuniba
- , Koh-ichiro Yoshiura
- , Tatsuro Kondoh
- , Hirofumi Ohashi
- , Kenji Kurosawa
- , Hidefumi Tonoki
- , Toshiro Nagai
- , Nobuhiko Okamoto
- , Mitsuhiro Kato
- , Yoshimitsu Fukushima
- , Tadashi Kaname
- , Kenji Naritomi
- , Tadashi Matsumoto
- , Hiroyuki Moriuchi
- , Tatsuya Kishino
- , Akira Kinoshita
- , Noriko Miyake
- , Naomichi Matsumoto
- & Norio Niikawa
Journal of Human Genetics 54 , 304–309

Rights & permissionsfor article Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome . Opens in a new window.
Research | 15 October 2006
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)
- Christopher R Ingraham
- , Akira Kinoshita
- , Shinji Kondo
- , Baoli Yang
- , Samin Sajan
- , Kurt J Trout
- , Margaret I Malik
- , Martine Dunnwald
- , Stephen L Goudy
- , Michael Lovett
- , Jeffrey C Murray
- & Brian C Schutte
Nature Genetics 38 , 1335–1340

Rights & permissionsfor article Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6) . Opens in a new window.
Research | 26 June 2007
A Japanese patient with a mild Lenz–Majewski syndrome
- Sumito Dateki
- , Tatsuro Kondoh
- , Gen Nishimura
- , Katsuaki Motomura
- , Koh-ichiro Yoshiura
- , Akira Kinoshita
- , Hideo Kuniba
- , Yoshiyuki Koga
- & Hiroyuki Moriuchi
Journal of Human Genetics 52 , 686–689

Rights & permissionsfor article A Japanese patient with a mild Lenz–Majewski syndrome . Opens in a new window.
Research | 1 January 2006
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses
- Eisaburo Ichikawa
- , Akira Watanabe
- , Yoko Nakano
- , Sadanori Akita
- , Akiyoshi Hirano
- , Akira Kinoshita
- , Shinji Kondo
- , Tatsuya Kishino
- , Takeshi Uchiyama
- , Norio Niikawa
- & Koh-ichiro Yoshiura
Journal of Human Genetics 51 , 38–46

Rights & permissionsfor article PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses . Opens in a new window.
Research | 29 January 2006
A SNP in the ABCC11 gene is the determinant of human earwax type
- Koh-ichiro Yoshiura
- , Akira Kinoshita
- , Takafumi Ishida
- , Aya Ninokata
- , Toshihisa Ishikawa
- , Tadashi Kaname
- , Makoto Bannai
- , Katsushi Tokunaga
- , Shunro Sonoda
- , Ryoichi Komaki
- , Makoto Ihara
- , Vladimir A Saenko
- , Gabit K Alipov
- , Ichiro Sekine
- , Kazuki Komatsu
- , Haruo Takahashi
- , Mitsuko Nakashima
- , Nadiya Sosonkina
- , Christophe K Mapendano
- , Mohsen Ghadami
- , Masayo Nomura
- , De-Sheng Liang
- , Nobutomo Miwa
- , Dae-Kwang Kim
- , Ariuntuul Garidkhuu
- , Nagato Natsume
- , Tohru Ohta
- , Hiroaki Tomita
- , Akira Kaneko
- , Mihoko Kikuchi
- , Graciela Russomando
- , Kenji Hirayama
- , Minaka Ishibashi
- , Aya Takahashi
- , Naruya Saitou
- , Jeffery C Murray
- , Susumu Saito
- , Yusuke Nakamura
- & Norio Niikawa
Nature Genetics 38 , 324–330

Rights & permissionsfor article A SNP in the ABCC11 gene is the determinant of human earwax type . Opens in a new window.
Research | 1 April 2012
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
- Yuka Nakazawa
- , Kensaku Sasaki
- , Norisato Mitsutake
- , Michiko Matsuse
- , Mayuko Shimada
- , Tiziana Nardo
- , Yoshito Takahashi
- , Kaname Ohyama
- , Kosei Ito
- , Hiroyuki Mishima
- , Masayo Nomura
- , Akira Kinoshita
- , Shinji Ono
- , Katsuya Takenaka
- , Ritsuko Masuyama
- , Takashi Kudo
- , Hanoch Slor
- , Atsushi Utani
- , Satoshi Tateishi
- , Shunichi Yamashita
- , Miria Stefanini
- , Alan R Lehmann
- , Koh-ichiro Yoshiura
- & Tomoo Ogi
Nature Genetics 44 , 586–592

Rights & permissionsfor article Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair . Opens in a new window.

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Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease

Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing

Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

Germline mutations causing familial lung cancer

Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US

Erratum: Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Epidemiology of human papillomavirus genotypes in pregnant Japanese women

Heterozygous TGFBR2 mutations in Marfan syndrome

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus

Haploinsufficiency of NSD1 causes Sotos syndrome

A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco–Sjögren syndrome

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

A Japanese patient with a mild Lenz–Majewski syndrome

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses

A SNP in the ABCC11 gene is the determinant of human earwax type

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

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