Showing 1–39 of 39 results
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Research | | Open
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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
- Pleuntje J. van der Sluijs
- , Sandra Jansen
- , Samantha A. Vergano
- , Miho Adachi-Fukuda
- , Yasemin Alanay
- , Adila AlKindy
- , Anwar Baban
- , Allan Bayat
- , Stefanie Beck-Wödl
- , Katherine Berry
- , Emilia K. Bijlsma
- , Levinus A. Bok
- , Alwin F. J. Brouwer
- , Ineke van der Burgt
- , Philippe M. Campeau
- , Natalie Canham
- , Krystyna Chrzanowska
- , Yoyo W. Y. Chu
- , Brain H. Y. Chung
- , Karin Dahan
- , Marjan De Rademaeker
- , Anne Destree
- , Tracy Dudding-Byth
- , Rachel Earl
- , Nursel Elcioglu
- , Ellen R. Elias
- , Christina Fagerberg
- , Alice Gardham
- , Blanca Gener
- , Erica H. Gerkes
- , Ute Grasshoff
- , Arie van Haeringen
- , Karin R. Heitink
- , Johanna C. Herkert
- , Nicolette S. den Hollander
- , Denise Horn
- , David Hunt
- , Sarina G. Kant
- , Mitsuhiro Kato
- , Hülya Kayserili
- , Rogier Kersseboom
- , Esra Kilic
- , Malgorzata Krajewska-Walasek
- , Kylin Lammers
- , Lone W. Laulund
- , Damien Lederer
- , Melissa Lees
- , Vanesa López-González
- , Saskia Maas
- , Grazia M. S. Mancini
- , Carlo Marcelis
- , Francisco Martinez
- , Isabelle Maystadt
- , Marianne McGuire
- , Shane McKee
- , Sarju Mehta
- , Kay Metcalfe
- , Jeff Milunsky
- , Seiji Mizuno
- , John B. Moeschler
- , Christian Netzer
- , Charlotte W. Ockeloen
- , Barbara Oehl-Jaschkowitz
- , Nobuhiko Okamoto
- , Sharon N. M. Olminkhof
- , Carmen Orellana
- , Laurent Pasquier
- , Caroline Pottinger
- , Vera Riehmer
- , Stephen P. Robertson
- , Maian Roifman
- , Caroline Rooryck
- , Fabienne G. Ropers
- , Monica Rosello
- , Claudia A. L. Ruivenkamp
- , Mahmut S. Sagiroglu
- , Suzanne C. E. H. Sallevelt
- , Amparo Sanchis Calvo
- , Pelin O. Simsek-Kiper
- , Gabriela Soares
- , Lucia Solaeche
- , Fatma Mujgan Sonmez
- , Miranda Splitt
- , Duco Steenbeek
- , Alexander P. A. Stegmann
- , Constance T. R. M. Stumpel
- , Saori Tanabe
- , Eyyup Uctepe
- , G. Eda Utine
- , Hermine E. Veenstra-Knol
- , Sunita Venkateswaran
- , Catheline Vilain
- , Catherine Vincent-Delorme
- , Anneke T. Vulto-van Silfhout
- , Patricia Wheeler
- , Golder N. Wilson
- , Louise C. Wilson
- , Bernd Wollnik
- , Tomoki Kosho
- , Dagmar Wieczorek
- , Evan Eichler
- , Rolph Pfundt
- , Bert B. A. de Vries
- , Jill Clayton-Smith
- & Gijs W. E. Santen
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Research |
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
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Amendments and Corrections | | Open
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis
- Daichi Shigemizu
- , Fuyuki Miya
- , Shintaro Akiyama
- , Shujiro Okuda
- , Keith A. Boroevich
- , Akihiro Fujimoto
- , Hidewaki Nakagawa
- , Kouichi Ozaki
- , Shumpei Niida
- , Yonehiro Kanemura
- , Nobuhiko Okamoto
- , Shinji Saitoh
- , Mitsuhiro Kato
- , Mami Yamasaki
- , Tatsuo Matsunaga
- , Hideki Mutai
- , Kenjiro Kosaki
- & Tatsuhiko Tsunoda
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An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population
- Taku Miyagawa
- , Hiromi Toyoda
- , Takashi Kanbayashi
- , Aya Imanishi
- , Yohei Sagawa
- , Nozomu Kotorii
- , Tatayu Kotorii
- , Yuji Hashizume
- , Kimihiro Ogi
- , Hiroshi Hiejima
- , Yuichi Kamei
- , Akiko Hida
- , Masayuki Miyamoto
- , Azusa Ikegami
- , Yamato Wada
- , Masanori Takami
- , Yota Fujimura
- , Yoshiyuki Tamura
- , Naoto Omata
- , Yasuhiro Masuya
- , Hideaki Kondo
- , Shunpei Moriya
- , Hirokazu Furuya
- , Mitsuhiro Kato
- , Hiroto Kojima
- , Koichi Kashiwase
- , Hiroh Saji
- , Seik-Soon Khor
- , Maria Yamasaki
- , Jun Ishigooka
- , Yuji Wada
- , Shigeru Chiba
- , Naoto Yamada
- , Masako Okawa
- , Kenji Kuroda
- , Kazuhiko Kume
- , Koichi Hirata
- , Naohisa Uchimura
- , Tetsuo Shimizu
- , Yuichi Inoue
- , Yutaka Honda
- , Kazuo Mishima
- , Makoto Honda
- & Katsushi Tokunaga
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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
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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
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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
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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
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
- Pleuntje J. van der Sluijs
- , Sandra Jansen
- , Samantha A. Vergano
- , Miho Adachi-Fukuda
- , Yasemin Alanay
- , Adila AlKindy
- , Anwar Baban
- , Allan Bayat
- , Stefanie Beck-Wödl
- , Katherine Berry
- , Emilia K. Bijlsma
- , Levinus A. Bok
- , Alwin F. J. Brouwer
- , Ineke van der Burgt
- , Philippe M. Campeau
- , Natalie Canham
- , Krystyna Chrzanowska
- , Yoyo W. Y. Chu
- , Brain H. Y. Chung
- , Karin Dahan
- , Marjan De Rademaeker
- , Anne Destree
- , Tracy Dudding-Byth
- , Rachel Earl
- , Nursel Elcioglu
- , Ellen R. Elias
- , Christina Fagerberg
- , Alice Gardham
- , Blanca Gener
- , Erica H. Gerkes
- , Ute Grasshoff
- , Arie van Haeringen
- , Karin R. Heitink
- , Johanna C. Herkert
- , Nicolette S. den Hollander
- , Denise Horn
- , David Hunt
- , Sarina G. Kant
- , Mitsuhiro Kato
- , Hülya Kayserili
- , Rogier Kersseboom
- , Esra Kilic
- , Malgorzata Krajewska-Walasek
- , Kylin Lammers
- , Lone W. Laulund
- , Damien Lederer
- , Melissa Lees
- , Vanesa López-González
- , Saskia Maas
- , Grazia M. S. Mancini
- , Carlo Marcelis
- , Francisco Martinez
- , Isabelle Maystadt
- , Marianne McGuire
- , Shane McKee
- , Sarju Mehta
- , Kay Metcalfe
- , Jeff Milunsky
- , Seiji Mizuno
- , John B. Moeschler
- , Christian Netzer
- , Charlotte W. Ockeloen
- , Barbara Oehl-Jaschkowitz
- , Nobuhiko Okamoto
- , Sharon N. M. Olminkhof
- , Carmen Orellana
- , Laurent Pasquier
- , Caroline Pottinger
- , Vera Riehmer
- , Stephen P. Robertson
- , Maian Roifman
- , Caroline Rooryck
- , Fabienne G. Ropers
- , Monica Rosello
- , Claudia A. L. Ruivenkamp
- , Mahmut S. Sagiroglu
- , Suzanne C. E. H. Sallevelt
- , Amparo Sanchis Calvo
- , Pelin O. Simsek-Kiper
- , Gabriela Soares
- , Lucia Solaeche
- , Fatma Mujgan Sonmez
- , Miranda Splitt
- , Duco Steenbeek
- , Alexander P. A. Stegmann
- , Constance T. R. M. Stumpel
- , Saori Tanabe
- , Eyyup Uctepe
- , G. Eda Utine
- , Hermine E. Veenstra-Knol
- , Sunita Venkateswaran
- , Catheline Vilain
- , Catherine Vincent-Delorme
- , Anneke T. Vulto-van Silfhout
- , Patricia Wheeler
- , Golder N. Wilson
- , Louise C. Wilson
- , Bernd Wollnik
- , Tomoki Kosho
- , Dagmar Wieczorek
- , Evan Eichler
- , Rolph Pfundt
- , Bert B. A. de Vries
- , Jill Clayton-Smith
- & Gijs W. E. Santen
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Research |
A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia
- Taku Miyagawa
- , Seik-Soon Khor
- , Hiromi Toyoda
- , Takashi Kanbayashi
- , Aya Imanishi
- , Yohei Sagawa
- , Nozomu Kotorii
- , Tatayu Kotorii
- , Yu Ariyoshi
- , Yuji Hashizume
- , Kimihiro Ogi
- , Hiroshi Hiejima
- , Yuichi Kamei
- , Akiko Hida
- , Masayuki Miyamoto
- , Azusa Ikegami
- , Yamato Wada
- , Masanori Takami
- , Yuichi Higashiyama
- , Ryoko Miyake
- , Hideaki Kondo
- , Yota Fujimura
- , Yoshiyuki Tamura
- , Yukari Taniyama
- , Naoto Omata
- , Yuji Tanaka
- , Shunpei Moriya
- , Hirokazu Furuya
- , Mitsuhiro Kato
- , Yoshiya Kawamura
- , Takeshi Otowa
- , Akinori Miyashita
- , Hiroto Kojima
- , Hiroh Saji
- , Mihoko Shimada
- , Maria Yamasaki
- , Takumi Kobayashi
- , Rumi Misawa
- , Yosuke Shigematsu
- , Ryozo Kuwano
- , Tsukasa Sasaki
- , Jun Ishigooka
- , Yuji Wada
- , Kazuhito Tsuruta
- , Shigeru Chiba
- , Fumiaki Tanaka
- , Naoto Yamada
- , Masako Okawa
- , Kenji Kuroda
- , Kazuhiko Kume
- , Koichi Hirata
- , Naohisa Uchimura
- , Tetsuo Shimizu
- , Yuichi Inoue
- , Yutaka Honda
- , Kazuo Mishima
- , Makoto Honda
- & Katsushi Tokunaga
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Research | | Open
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
- Ikumi Hori
- , Takanobu Otomo
- , Mitsuko Nakashima
- , Fuyuki Miya
- , Yutaka Negishi
- , Hideaki Shiraishi
- , Yutaka Nonoda
- , Shinichi Magara
- , Jun Tohyama
- , Nobuhiko Okamoto
- , Takeshi Kumagai
- , Konomi Shimoda
- , Yoshiya Yukitake
- , Daigo Kajikawa
- , Tomohiro Morio
- , Ayako Hattori
- , Motoo Nakagawa
- , Naoki Ando
- , Ichizo Nishino
- , Mitsuhiro Kato
- , Tatsuhiko Tsunoda
- , Hirotomo Saitsu
- , Yonehiro Kanemura
- , Mami Yamasaki
- , Kenjiro Kosaki
- , Naomichi Matsumoto
- , Tamotsu Yoshimori
- & Shinji Saitoh
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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
- Kunio Kitamura
- , Masako Yanazawa
- , Noriyuki Sugiyama
- , Hirohito Miura
- , Akiko Iizuka-Kogo
- , Masatomo Kusaka
- , Kayo Omichi
- , Rika Suzuki
- , Yuko Kato-Fukui
- , Kyoko Kamiirisa
- , Mina Matsuo
- , Shin-ichi Kamijo
- , Megumi Kasahara
- , Hidefumi Yoshioka
- , Tsutomu Ogata
- , Takayuki Fukuda
- , Ikuko Kondo
- , Mitsuhiro Kato
- , William B. Dobyns
- , Minesuke Yokoyama
- & Ken-ichirou Morohashi
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Research | | Open