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BARD1 deletion in a patient with suspected hereditary colorectal cancer Hum. Genome Var. Pub Date : 2024-03-15 Nobue Takaiso, Issei Imoto, Akiyo Yoshimura, Akira Ouchi, Koji Komori, Hiroji Iwata, Yasuhiro Shimizu
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A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins Hum. Genome Var. Pub Date : 2024-02-29 Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito
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Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient Hum. Genome Var. Pub Date : 2024-02-26 Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu
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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant Hum. Genome Var. Pub Date : 2024-02-22 Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi
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Novel variant of FBN2 in a patient with congenital contractual arachnodactyly Hum. Genome Var. Pub Date : 2024-02-08 Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi
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Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber’s hereditary optic neuropathy (LHON) Hum. Genome Var. Pub Date : 2024-01-25 Aswathy P. Nair, Ambika Selvakumar, Janani Gopalarethinam, B. Abishek Kumar, Balachandar Vellingiri, Mohana Devi Subramaniam
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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia Hum. Genome Var. Pub Date : 2024-01-23 Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Satoru Miyabe, Satoshi Watanabe, Shogo Hasegawa, Hitoshi Miyachi, Junichiro Machida, Mitsuo Goto, Yoshihito Tokita
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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus Hum. Genome Var. Pub Date : 2024-01-23 Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová
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Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder Hum. Genome Var. Pub Date : 2024-01-15 Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto
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Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A Hum. Genome Var. Pub Date : 2024-01-15 Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata
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A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression Hum. Genome Var. Pub Date : 2024-01-05 Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima
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A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1 Hum. Genome Var. Pub Date : 2023-11-22 Kazuki Watanabe, Kazuo Kubota, Mitsuko Nakashima, Hirotomo Saitsu
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Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy Hum. Genome Var. Pub Date : 2023-11-20 Yo Niida, Azusa Kobayashi, Sumihito Togi, Hiroki Ura
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A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay Hum. Genome Var. Pub Date : 2023-10-16 Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo
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A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report Hum. Genome Var. Pub Date : 2023-09-26 Parisa Mashayekhi, Mir Davood Omrani, Seyed Hasan Tonekaboni, Ali Dehghanifard
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Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV Hum. Genome Var. Pub Date : 2023-09-11 Yoshihiko Kodama, Satoru Meiri, Tomoko Asada, Misayo Matsuyama, Shinya Makino, Minayo Iwai, Masatoshi Yamaguchi, Hiroshi Moritake
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Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia Hum. Genome Var. Pub Date : 2023-09-06 Hana Milena Fujimoto, Masanori Fujimoto, Takahiro Sugiura, Shigeharu Nakane, Yasuhiro Wakano, Emi Sato, Hironori Oshita, Yasuko Togawa, Mari Sugimoto, Takenori Kato, Kazushi Yasuda, Kanji Muramatsu, Shinji Saitoh
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Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants Hum. Genome Var. Pub Date : 2023-08-22 Yoshihiro Taura, Takenori Tozawa, Kenichi Isoda, Satori Hirai, Tomohiro Chiyonobu, Naoko Yano, Takahiro Hayashi, Takeshi Yoshida, Tomoko Iehara
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Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features Hum. Genome Var. Pub Date : 2023-08-07 Keiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto
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X-linked intellectual disability related to a novel variant of KLHL15 Hum. Genome Var. Pub Date : 2023-07-14 Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
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The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus Hum. Genome Var. Pub Date : 2023-06-23 Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
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Genome-wide association study of preterm birth and gestational age in a Japanese population Hum. Genome Var. Pub Date : 2023-06-13 Keita Hasegawa, Natsuhiko Kumasaka, Kazuhiko Nakabayashi, Hiromi Kamura, Kayoko Maehara, Yoshifumi Kasuga, Kenichiro Hata, Mamoru Tanaka
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Oculofaciocardiodental syndrome caused by a novel BCOR variant Hum. Genome Var. Pub Date : 2023-06-12 Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, Eri Sakai, Chie Ono, Haruka Bamba, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Yorifuji, Takashi Hamazaki, Toshiyuki Seto
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A novel HECW2 variant in an infant with congenital long QT syndrome Hum. Genome Var. Pub Date : 2023-06-06 Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi
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A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family Hum. Genome Var. Pub Date : 2023-05-23 Asia Parveen, Muhammad Tariq, Sher Alam Khan, Naseebullah Kakar, Amina Arif, Naveed Wasif
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform Hum. Genome Var. Pub Date : 2023-05-22 Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man, Wenqian Zhang, Lina Wang, Long Li, Yan Sun, Teng Zhai, Xueqin Guo, Lique Du, Jin Huang, Hao Li, Yang Wan, Xiaoming Wei
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A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran Hum. Genome Var. Pub Date : 2023-05-15 Narges Soozangar, Ehsan Abbaspour, Haleh Mokaber, Zahra Nematollahi, Behzad Davarnia
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Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder Hum. Genome Var. Pub Date : 2023-04-13 Toru Sonoyama, Takashi Ishino, Yui Ogawa, Takashi Oda, Sachio Takeno
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A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene Hum. Genome Var. Pub Date : 2023-04-13 Juhua Ji, Mingming Yang, JunJun Jia, Qi Wu, Ruochen Cong, Hengxiang Cui, Baofeng Zhu, Xin Chu
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Public attitudes toward cloud computing and willingness to share personal health records (PHRs) and genome data for health care research in Japan Hum. Genome Var. Pub Date : 2023-03-30 Mayumi Kusunose, Kaori Muto
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Genetic Creutzfeldt‒Jakob disease with 5-octapeptide repeats presented as frontotemporal dementia Hum. Genome Var. Pub Date : 2023-03-29 Shinsuke Hamada, Ikuko Takahashi-Iwata, Katsuya Satoh, Tetsuyuki Kitamoto, Hidehiro Mizusawa, Fumio Moriwaka, Ichiro Yabe
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A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene Hum. Genome Var. Pub Date : 2023-03-24 Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta
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Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis Hum. Genome Var. Pub Date : 2023-03-02 Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, Michi Kamei, Koji Tatebayashi, Jun Shinozuka, Takahisa Yamane, Makoto Hibino, Yoshiya Katsura, Sonoko Nakano-Akamatsu, Norimitsu Kadowaki, Yoshiro Maru, Etsuro Ito, Shouichi Ohga, Hiroshi Yagasaki, Ichiro Morioka, Toshiyuki Yamamoto
Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinical and laboratory findings related to erythrocytes. PIEZO1 and KCNN4 have been recognized as causative genes, and many related variants have been reported. We analyzed
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SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature Hum. Genome Var. Pub Date : 2023-02-22 Aljouhra AlHargan, Mohammed A. AlMuhaizea, Rawan Almass, Ali H. Alwadei, Maha Daghestani, Stefan T. Arold, Namik Kaya
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Design and implementation of a hybrid cloud system for large-scale human genomic research Hum. Genome Var. Pub Date : 2023-02-08 Masao Nagasaki, Yayoi Sekiya, Akihiro Asakura, Ryo Teraoka, Ryoko Otokozawa, Hiroki Hashimoto, Takahisa Kawaguchi, Keiichiro Fukazawa, Yuichi Inadomi, Ken T. Murata, Yasuyuki Ohkawa, Izumi Yamaguchi, Takamichi Mizuhara, Katsushi Tokunaga, Yuji Sekiya, Toshihiro Hanawa, Ryo Yamada, Fumihiko Matsuda
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Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family Hum. Genome Var. Pub Date : 2023-02-02 Hirofumi Watanabe, Shin Goto, Michihiro Hosojima, Hideyuki Kabasawa, Naofumi Imai, Yumi Ito, Ichiei Narita
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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy Hum. Genome Var. Pub Date : 2023-02-02 Satomi Okano, Yoshio Makita, Akie Miyamoto, Genya Taketazu, Kayano Kimura, Ikue Fukuda, Hajime Tanaka, Kumiko Yanagi, Tadashi Kaname
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Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia Hum. Genome Var. Pub Date : 2023-01-26 Junya Adachi, Yoshihiko Aoki, Hiroto Izumi, Takeshi Nishiyama, Atsuo Nakayama, Masatoshi Sana, Kyoko Morimoto, Atsuo Kaetsu, Takamasa Shirozu, Eriko Osumi, Michiko Matsuoka, Eri Hayakawa, Nasel Maeda, Junichiro Machida, Toru Nagao, Yoshihito Tokita
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Diversity and distribution of mitochondrial DNA in non-Austronesian-speaking Taiwanese individuals Hum. Genome Var. Pub Date : 2023-01-18 Marie Lin, Jean A. Trejaut
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EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review Hum. Genome Var. Pub Date : 2023-01-13 Zahra Abbasi, Hossein Jafari Khamirani, Seyed Mohammad Bagher Tabei, Jamal Manoochehri, Mehdi Dianatpour, Seyed Alireza Dastgheib
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Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes Hum. Genome Var. Pub Date : 2022-12-21 Jerzy K. Kulski, Shingo Suzuki, Takashi Shiina
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The NBDC-DDBJ imputation server facilitates the use of controlled access reference panel datasets in Japan Hum. Genome Var. Pub Date : 2022-12-20 Tsuyoshi Hachiya, Manabu Ishii, Yosuke Kawai, Seik-Soon Khor, Minae Kawashima, Licht Toyo-Oka, Nobutaka Mitsuhashi, Asami Fukuda, Yuichi Kodama, Takatomo Fujisawa, Katsushi Tokunaga, Toshihisa Takagi
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Building cloud computing environments for genome analysis in Japan Hum. Genome Var. Pub Date : 2022-12-14 Osamu Ogasawara
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A novel FLNA variant in a fetus with skeletal dysplasia Hum. Genome Var. Pub Date : 2022-12-13 Kyoko Oshina, Yoshimasa Kamei, Asuka Hori, Fuyuki Hasegawa, Kosuke Taniguchi, Ohsuke Migita, Atsuo Itakura, Kenichiro Hata
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TogoVar: A comprehensive Japanese genetic variation database Hum. Genome Var. Pub Date : 2022-12-12 Nobutaka Mitsuhashi, Licht Toyo-oka, Toshiaki Katayama, Minae Kawashima, Shuichi Kawashima, Kazunori Miyazaki, Toshihisa Takagi
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Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis Hum. Genome Var. Pub Date : 2022-12-05 Kaoru Eto, Osamu Machida, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Kentaro Chiba, Yasuo Aihara, Yuuki Hasegawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Satoru Nagata, Toshiyuki Yamamoto
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A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria Hum. Genome Var. Pub Date : 2022-12-01 Maho Hatano, Tomohiro Udagawa, Toru Kanamori, Akito Sutani, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Tomohiro Morio, Masato Nishioka
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Atypical Sotos syndrome caused by a novel splice site variant Hum. Genome Var. Pub Date : 2022-11-16 Mari Minatogawa, Taichi Tsuji, Mie Inaba, Noriaki Kawakami, Seiji Mizuno, Tomoki Kosho
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Novel missense COL2A1 variant in a fetus with achondrogenesis type II Hum. Genome Var. Pub Date : 2022-11-15 Yukari Kobayashi, Yuki Ito, Kosuke Taniguchi, Kana Harada, Michihiro Yamamura, Taisuke Sato, Ken Takahashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto
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Distal 2q duplication in a patient with intellectual disability Hum. Genome Var. Pub Date : 2022-11-10 Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto
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National Center Biobank Network Hum. Genome Var. Pub Date : 2022-11-04 Yosuke Omae, Yu-ichi Goto, Katsushi Tokunaga
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An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome Hum. Genome Var. Pub Date : 2022-10-26 Olga A. Vostrukhina, Elena D. Mirlina, Darya N. Khmelkova, Galina M. Butrovich, Alexandra D. Shakhmatova, Yury V. Kil, Yliya L. Polyatskin, Anna S. Artemyeva, Alexey V. Gulyaev, Valery N. Verbenko
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Cloud service checklist for academic communities and customization for genome medical research Hum. Genome Var. Pub Date : 2022-10-17 Kumiko Kobayashi, Hiroshi Yoshida, Tomoya Tanjo, Kento Aida
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A Japanese patient with neonatal biotin-responsive basal ganglia disease Hum. Genome Var. Pub Date : 2022-09-29 Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka
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Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals Hum. Genome Var. Pub Date : 2022-09-28 Naomi Shiga, Yumi Yamaguchi-Kabata, Saori Igeta, Jun Yasuda, Shu Tadaka, Takamichi Minato, Zen Watanabe, Junko Kanno, Gen Tamiya, Nobuo Fuse, Kengo Kinoshita, Shigeo Kure, Akiko Kondo, Masahito Tachibana, Masayuki Yamamoto, Nobuo Yaegashi, Junichi Sugawara
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The ATRX splicing variant c.21-1G>A is asymptomatic Hum. Genome Var. Pub Date : 2022-09-14 Karin Kojima, Takahito Wada, Hiroko Shimbo, Takahiro Ikeda, Eriko F. Jimbo, Hirotomo Saitsu, Naomichi Matsumoto, Takanori Yamagata
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Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome Hum. Genome Var. Pub Date : 2022-09-12 Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts Hum. Genome Var. Pub Date : 2022-09-08 Bushra Irum, Firoz Kabir, Nadav Shoshany, Shahid Y. Khan, Bushra Rauf, Muhammad Asif Naeem, Tanveer A. Qaiser, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin
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A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report Hum. Genome Var. Pub Date : 2022-08-31 Naonori Kumagai, Yuji Matsumoto, Tomomi Kondoh, Yohei Ikezumi
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A Japanese family with dystonia due to a pathogenic variant in SGCE Hum. Genome Var. Pub Date : 2022-08-22 Takuya Morikawa, Shiroh Miura, Luoming Fan, Emina Watanabe, Ryuta Fujioka, Hiromichi Motooka, Shingo Yasumoto, Yusuke Uchiyama, Hiroki Shibata