Data Report
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Open Access
Latest Research
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Article
| Open AccessEstimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals
- Shinichi Nagaoka
- , Yumi Yamaguchi-Kabata
- , Naomi Shiga
- , Masahito Tachibana
- , Jun Yasuda
- , Shu Tadaka
- , Gen Tamiya
- , Nobuo Fuse
- , Kengo Kinoshita
- , Shigeo Kure
- , Jun Murotsuki
- , Masayuki Yamamoto
- , Nobuo Yaegashi
- & Junichi Sugawara
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Data Report
| Open AccessNovel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion
- Kosuke Taniguchi
- , Mikihiro Inoue
- , Katsuhiro Arai
- , Keiichi Uchida
- , Osuke Migita
- , Yui Akemoto
- , Junya Hirayama
- , Ichiro Takeuchi
- , Hirotaka Shimizu
- & Kenichiro Hata
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Data Report
| Open AccessA novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease
- Noboru Uchida
- , Hironori Shibata
- , Gen Nishimura
- & Tomonobu Hasegawa
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Data Report
| Open AccessHemizygous FLNA variant in West syndrome without periventricular nodular heterotopia
- Yoshitaka Hiromoto
- , Yoshiteru Azuma
- , Yuichi Suzuki
- , Megumi Hoshina
- , Yuri Uchiyama
- , Satomi Mitsuhashi
- , Satoko Miyatake
- , Takeshi Mizuguchi
- , Atsushi Takata
- , Noriko Miyake
- , Mitsuhiro Kato
- & Naomichi Matsumoto
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Data Report
| Open AccessNovel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability
- Amjad Khan
- , Muhammad Umair
- , Rania Abdulfattah Sharaf
- , Muhammad Ismail Khan
- , Amir Ullah
- , Safdar Abbas
- , Nargis Shaheen
- , Muhammad Bilal
- & Farooq Ahamd
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Data Report
| Open AccessNovel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
- Hiromi Ogura
- , Shouichi Ohga
- , Takako Aoki
- , Taiju Utsugisawa
- , Hidehiro Takahashi
- , Asayuki Iwai
- , Kenichiro Watanabe
- , Yusuke Okuno
- , Kenichi Yoshida
- , Seishi Ogawa
- , Satoru Miyano
- , Seiji Kojima
- , Toshiyuki Yamamoto
- , Keiko Yamamoto-Shimojima
- & Hitoshi Kanno
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Article
| Open AccessA reference catalog of DNA palindromes in the human genome and their variations in 1000 Genomes
- Madhavi K. Ganapathiraju
- , Sandeep Subramanian
- , Srilakshmi Chaparala
- & Kalyani B. Karunakaran
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Data Report
| Open AccessA novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
- Saba Ahmad
- , Luis Manon
- , Gifty Bhat
- , Jerry Machado
- , Alice Zalan
- , Nikolas Mata-Machado
- , Steven Garzon
- & Akira Yoshii
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Data Report
| Open AccessNovel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome
- Yoji Nakase
- , Atsuko Hamada
- , Naoya Kitamura
- , Tsuyoshi Hata
- , Shigeaki Toratani
- , Tetsuya Yamamoto
- & Tetsuji Okamoto
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Article
| Open AccessRare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility
- Yoshihiro Nawa
- , Hiroki Kimura
- , Daisuke Mori
- , Hidekazu Kato
- , Miho Toyama
- , Sho Furuta
- , Yanjie Yu
- , Kanako Ishizuka
- , Itaru Kushima
- , Branko Aleksic
- , Yuko Arioka
- , Mako Morikawa
- , Takashi Okada
- , Toshiya Inada
- , Kozo Kaibuchi
- , Masashi Ikeda
- , Nakao Iwata
- , Michio Suzuki
- , Yuko Okahisa
- , Jun Egawa
- , Toshiyuki Someya
- , Fumichika Nishimura
- , Tsukasa Sasaki
- & Norio Ozaki
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Correction
| Open AccessCorrection to: Prevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan
- Yasunori Maeda
- , Akira Sasaki
- , Shuya Kasai
- , Shinichi Goto
- , Shin-ya Nishio
- , Kaori Sawada
- , Itoyo Tokuda
- , Ken Itoh
- , Shin-ichi Usami
- & Atsushi Matsubara
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Article
| Open AccessExpanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants
- Terri L. McLaren
- , John N. De Roach
- , Jennifer A. Thompson
- , Fred K. Chen
- , David A. Mackey
- , Ling Hoffmann
- , Isabella R. Urwin
- & Tina M. Lamey
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Data Report
| Open AccessJervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
- Shinichi Matsuda
- , Yuko Ohnuki
- , Mayuri Okami
- , Eriko Ochiai
- , Shiro Yamada
- , Kazumi Takahashi
- , Motoki Osawa
- , Kenji Okami
- , Masahiro Iida
- & Hiroyuki Mochizuki
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Article
| Open AccessGenetic architecture of left ventricular noncompaction in adults
- Samantha Barratt Ross
- , Emma S. Singer
- , Elizabeth Driscoll
- , Natalie Nowak
- , Laura Yeates
- , Rajesh Puranik
- , Raymond W. Sy
- , Sulekha Rajagopalan
- , Alexandra Barratt
- , Jodie Ingles
- , Richard D. Bagnall
- & Christopher Semsarian
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Data Report
| Open AccessPrenatal diagnosis of Fraser syndrome caused by novel variants of FREM2
- Shoko Ikeda
- , Chika Akamatsu
- , Akifumi Ijuin
- , Ami Nagashima
- , Megumi Sasaki
- , Akihiko Mochizuki
- , Hiromi Nagase
- , Yumi Enomoto
- , Yukiko Kuroda
- , Kenji Kurosawa
- & Hiroshi Ishikawa
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Data Report
| Open AccessLDB2 locus disruption on 4p16.1 as a risk factor for schizophrenia and bipolar disorder
- Yasue Horiuchi
- , Tomoe Ichikawa
- , Tetsuo Ohnishi
- , Yoshimi Iwayama
- , Kazuya Toriumi
- , Mitsuhiro Miyashita
- , Izumi Nohara
- , Nanako Obata
- , Tomoko Toyota
- , Takeo Yoshikawa
- , Masanari Itokawa
- & Makoto Arai
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Data Report
| Open AccessA novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
- Junpei Hamada
- , Fumihiro Ochi
- , Yuka Sei
- , Koji Takemoto
- , Hiroki Hirai
- , Misa Honda
- , Hironori Shibata
- , Tomonobu Hasegawa
- & Mariko Eguchi
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Data Report
| Open AccessA toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
- V. I. Romero
- , J. C. Pozo
- , S. Saenz
- , A. Llamos-Paneque
- , T. Liehr
- , K. Hosomichi
- & A. Tajima
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Data Report
| Open AccessArthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
- Naoto Nishimura
- , Tatsuro Kumaki
- , Hiroaki Murakami
- , Yumi Enomoto
- , Kaoru Katsumata
- , Katsuaki Toyoshima
- & Kenji Kurosawa
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Article
| Open AccessPrevalence of the mitochondrial 1555 A>G and 1494 C>T mutations in a community-dwelling population in Japan
- Yasunori Maeda
- , Akira Sasaki
- , Shuya Kasai
- , Shinichi Goto
- , Shin-ya Nishio
- , Kaori Sawada
- , Itoyo Tokuda
- , Ken Itoh
- , Shin-ichi Usami
- & Atsushi Matsubara
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Data Report
| Open AccessNonsense variants of STAG2 result in distinct congenital anomalies
- Hiromi Aoi
- , Ming Lei
- , Takeshi Mizuguchi
- , Nobuko Nishioka
- , Tomohide Goto
- , Sahoko Miyama
- , Toshifumi Suzuki
- , Kazuhiro Iwama
- , Yuri Uchiyama
- , Satomi Mitsuhashi
- , Atsuo Itakura
- , Satoru Takeda
- & Naomichi Matsumoto
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Data Report
| Open AccessCompound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
- Nobuhiro Hashimoto
- , Sumito Dateki
- , Eri Suzuki
- , Takatoshi Tsuchihashi
- , Aiko Isobe
- , Sari Banno
- , Tomoka Kageyama
- , Naonori Maeda
- , Naomi Hatabu
- , Rieko Sato
- , Masashi Miharu
- , Hisayo Fujita
- , Osamu Komiyama
- , Hitomi Shimizu
- , Tomonobu Hasegawa
- & Kazuki Yamazawa
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Data Report
| Open AccessEarly-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
- Natalie Deuitch
- , Shao-Tzu Li
- , Eliza Courtney
- , Tarryn Shaw
- , Rebecca Dent
- , Veronique Tan
- , Lauren Yackowski
- , Rebecca Torene
- , Windy Berkofsky-Fessler
- & Joanne Ngeow
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Data Report
| Open AccessA Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy
- Ayumi Shishido
- , Naoya Morisada
- , Kenta Tominaga
- , Hiroyasu Uemura
- , Akiko Haruna
- , Hiroaki Hanafusa
- , Kandai Nozu
- & Kazumoto Iijima
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Data Report
| Open AccessA Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing
- Takayuki Yokoi
- , Yumi Enomoto
- , Tomoko Uehara
- , Kenjiro Kosaki
- & Kenji Kurosawa
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Data Report
| Open AccessMolecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
- Keita Osumi
- , Kenichi Suga
- , Akemi Ono
- , Aya Goji
- , Tatsuo Mori
- , Yukiko Kinoshita
- , Mikio Sugano
- , Yoshihiro Toda
- , Maki Urushihara
- , Ryuji Nakagawa
- , Yasunobu Hayabuchi
- , Issei Imoto
- & Shoji Kagami
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Data Report
| Open AccessUnusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient
- Anna M. Cueto-González
- , Mónica Fernández-Cancio
- , Paula Fernández-Alvarez
- , Elena García-Arumí
- & Eduardo F. Tizzano
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Data Report
| Open AccessDe novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
- Yuto Kondo
- , Kohei Aoyama
- , Hisato Suzuki
- , Ayako Hattori
- , Ikumi Hori
- , Koichi Ito
- , Aya Yoshida
- , Mari Koroki
- , Kentaro Ueda
- , Kenjiro Kosaki
- & Shinji Saitoh
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Article
| Open AccessPolo-like kinase 4 and Stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy
- Hiroyuki Yoshihara
- , Mayumi Sugiura-Ogasawara
- , Fumiko Ozawa
- , Tamao Kitaori
- , Yasuhiko Ozaki
- , Koji Aoki
- , Yasuhiro Shibata
- , Shinya Ugawa
- , Takeshi Nishiyama
- , Yosuke Omae
- & Katsushi Tokunaga
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Data Report
| Open AccessGitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion
- Yuki Abe
- , Toshiyuki Yamamoto
- , Yukie Izumita
- & Shinya Tsukano
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Data Report
| Open AccessNovel LAMA2 variants identified in a patient with white matter abnormalities
- Keiko Yamamoto-Shimojima
- , Hiroaki Ono
- , Taichi Imaizumi
- & Toshiyuki Yamamoto
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Data Report
| Open AccessTatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder
- Takayuki Yokoi
- , Yumi Enomoto
- , Takuya Naruto
- , Kenji Kurosawa
- & Norimichi Higurashi
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Data Report
| Open AccessMutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
- Raheela Nadeem
- , Firoz Kabir
- , Jiali Li
- , Libe Gradstein
- , Xiaodong Jiao
- , Bushra Rauf
- , Muhammad Asif Naeem
- , Muhammad Zaman Assir
- , Sheikh Riazuddin
- , Radha Ayyagari
- , J. Fielding Hejtmancik
- & S. Amer Riazuddin
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Article
| Open AccessHaplotype-specific PCR for NAT2 diplotyping
- Nuanjun Wichukchinda
- , Jirapa Pakdee
- , Punna Kunhapan
- , Wimala Imunchot
- , Licht Toyo-oka
- , Katsushi Tokunaga
- & Surakameth Mahasirimongkol
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Data Report
| Open AccessDuchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
- Tetsuya Okazaki
- , Kaori Matsuura
- , Noriko Kasagi
- , Kaori Adachi
- , Masachika Kai
- , Mariko Okubo
- , Ichizo Nishino
- , Eiji Nanba
- & Yoshihiro Maegaki
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Data Report
| Open AccessA novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data
- Yasutsugu Chinen
- , Kumiko Yanagi
- , Sadao Nakamura
- , Noriko Nakayama
- , Motoko Kamiya
- , Mami Nakayashiro
- , Tadashi Kaname
- , Kenji Naritomi
- & Koichi Nakanishi
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Data Report
| Open AccessNovel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
- Mina Nakama
- , Hideo Sasai
- , Mitsuru Kubota
- , Yuki Hasegawa
- , Ryoji Fujiki
- , Torayuki Okuyama
- , Osamu Ohara
- & Toshiyuki Fukao
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Data Report
| Open AccessNovel ARX mutation identified in infantile spasm syndrome patient
- Yohei Takeshita
- , Tatsuyuki Ohto
- , Takashi Enokizono
- , Mai Tanaka
- , Hisato Suzuki
- , Hiroko Fukushima
- , Tomoko Uehara
- , Toshiki Takenouchi
- , Kenjiro Kosaki
- & Hidetoshi Takada
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Data Report
| Open AccessPhenotypes of a family with XLH with a novel PHEX mutation
- Akiko Yamamoto
- , Toshiro Nakamura
- , Yasuhisa Ohata
- , Takuo Kubota
- & Keiichi Ozono
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Data Report
| Open AccessGenetic testing of GCK-MODY identifies a novel pathogenic variant in a Chinese boy with early onset hyperglycemia
- Kok-Siong Poon
- , Karen Mei-Ling Tan
- , Evelyn Siew-Chuan Koay
- & Andrew Sng
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Data Report
| Open AccessMIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
- Shinsuke Onuma
- , Tamaki Wada
- , Ryosuke Araki
- , Kazuko Wada
- , Kanako Tanase-Nakao
- , Satoshi Narumi
- , Miho Fukui
- , Yasuko Shoji
- , Yuri Etani
- , Shinobu Ida
- & Masanobu Kawai
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Correction
| Open AccessCorrection to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants
- Go Mawatari
- , Kaoru Fujinami
- , Xiao Liu
- , Lizhu Yang
- , Yu Fujinami-Yokokawa
- , Shiori Komori
- , Shinji Ueno
- , Hiroko Terasaki
- , Satoshi Katagiri
- , Takaaki Hayashi
- , Kazuki Kuniyoshi
- , Yozo Miyake
- , Kazushige Tsunoda
- , Kazutoshi Yoshitake
- , Takeshi Iwata
- & Nobuhisa Nao-i
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Article
| Open AccessA novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D
- Chi-Bao Bui
- , Thao Thi Phuong Duong
- , Vien The Tran
- , Thuy Thanh T. Pham
- , Tung Vu
- , Gia Cac Chau
- , Thanh-Niem Van Vo
- , Vinh Nguyen
- , Dieu-Thuong Thi Trinh
- & Minh Van Hoang
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Data Report
| Open AccessNovel 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
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Data Report
| Open AccessA neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation
- Moe Kusakawa
- , Takeshi Sato
- , Ai Hosoda
- , Eriko Araki
- , Yohei Matsuzaki
- , Yukio Yamashita
- , Jun Ishihara
- , Yoshinori Inagaki
- , Noboru Uchida
- , Tomohiro Ishii
- & Tomonobu Hasegawa
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Data Report
| Open AccessKAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
- Yo Hamaguchi
- , Mikihiro Aoki
- , Satoshi Watanabe
- , Hiroyuki Mishima
- , Koh-ichiro Yoshiura
- , Hiroyuki Moriuchi
- & Sumito Dateki
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Software Report
| Open AccessMGeND: an integrated database for Japanese clinical and genomic information
- Mayumi Kamada
- , Masahiko Nakatsui
- , Ryosuke Kojima
- , Sachio Nohara
- , Eiichiro Uchino
- , Shigeki Tanishima
- , Masaya Sugiyama
- , Kenjiro Kosaki
- , Katsushi Tokunaga
- , Masashi Mizokami
- & Yasushi Okuno
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Data Report
| Open AccessNormal early development in siblings with novel compound heterozygous variants in ASPM
- Taro Moriwaki
- , Narutoshi Yamazaki
- , Tetsumin So
- , Motomichi Kosuga
- , Osamu Miyazaki
- , Yoko Narumi-Kishimoto
- , Tadashi Kaname
- , Gen Nishimura
- , Torayuki Okuyama
- & Yasuyuki Fukuhara
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Data Report
| Open AccessBecker muscular dystrophy caused by exon 2-truncating mutation of DMD
- Tetsuhiko Ikeda
- , Hidehiko Fujinaka
- , Kiyoe Goto
- , Takashi Nakajima
- & Tetsuo Ozawa
