Human genome variation

Keyphrases

Publications

volume 11, number 1, 2024

Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue
Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants. Human genome variation 11 (1) (2024)
Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi
Novel variant of FBN2 in a patient with congenital contractual arachnodactyly. Human genome variation 11 (1) (2024)
Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant. Human genome variation 11 (1) (2024)
Shunichi Kosugi, Chikashi Terao
Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data. Human genome variation 11 (1) (2024)
Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A. Human genome variation 11 (1) (2024)
Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability. Human genome variation 11 (1) (2024)
Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito
A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins. Human genome variation 11 (1) (2024)
Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito
A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins. Human genome variation 11 (1) (2024)
Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Satoru Miyabe, Satoshi Watanabe, Shogo Hasegawa, Hitoshi Miyachi, Junichiro Machida, Mitsuo Goto, Yoshihito Tokita
Novel frameshift variant of WNT10A in a Japanese patient with hypodontia. Human genome variation 11 (1) (2024)
Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus. Human genome variation 11 (1) (2024)
Nur Aisyah Aziz, Nurul Hidayah Musa, Melina Mathews, Komalah Thevii Rajenderan, Faidatul Syazlin Abdul Hamid, Syahzuwan Hassan, Syahira Lazira Omar, Wan Nurul Afiqha Binti Wan Yusoff, Melanie Ling Binti Mohd Din, Nurul Amira Binti Jamaludin, Wan Rohani Wan Taib, Ezalia Esa, Norafiza Mohd Yasin
Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis. Human genome variation 11 (1) (2024)
Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A. Human genome variation 11 (1) (2024)
Shunichi Kosugi, Chikashi Terao
Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data. Human genome variation 11 (1) (2024)
Natsuko Inagaki, Tomoya Okano, Masatake Kobayashi, Masatsune Fujii, Yoshinao Yazaki, Yasuyoshi Takei, Hisanori Kosuge, Shinji Suzuki, Takeharu Hayashi, Masahiko Kuroda, Kazuhiro Satomi
Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant. Human genome variation 11 (1) (2024)
Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability. Human genome variation 11 (1) (2024)
Hasan Azizi, Mortaza Bonyadi, Abbas Rafat
A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome. Human genome variation 11 (1) (2024)
Nobue Takaiso, Issei Imoto, Akiyo Yoshimura, Akira Ouchi, Koji Komori, Hiroji Iwata, Yasuhiro Shimizu
BARD1 deletion in a patient with suspected hereditary colorectal cancer. Human genome variation 11 (1) (2024)
Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu
Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient. Human genome variation 11 (1) (2024)
Natsuko Inagaki, Tomoya Okano, Masatake Kobayashi, Masatsune Fujii, Yoshinao Yazaki, Yasuyoshi Takei, Hisanori Kosuge, Shinji Suzuki, Takeharu Hayashi, Masahiko Kuroda, Kazuhiro Satomi
Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant. Human genome variation 11 (1) (2024)
Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus. Human genome variation 11 (1) (2024)
Aswathy P Nair, Ambika Selvakumar, Janani Gopalarethinam, B Abishek Kumar, Balachandar Vellingiri, Mohana Devi Subramaniam
Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber's hereditary optic neuropathy (LHON). Human genome variation 11 (1) (2024)
Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Satoru Miyabe, Satoshi Watanabe, Shogo Hasegawa, Hitoshi Miyachi, Junichiro Machida, Mitsuo Goto, Yoshihito Tokita
Novel frameshift variant of WNT10A in a Japanese patient with hypodontia. Human genome variation 11 (1) (2024)
Aswathy P Nair, Ambika Selvakumar, Janani Gopalarethinam, B Abishek Kumar, Balachandar Vellingiri, Mohana Devi Subramaniam
Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber's hereditary optic neuropathy (LHON). Human genome variation 11 (1) (2024)
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
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation 11 (1) (2024)
Shiroh Miura, Emina Watanabe, Kensuke Senzaki, Shigeyoshi Hiruki, Sayaka Matsumoto, Takuya Morikawa, Yusuke Uchiyama, Seiji Kurata, Masayuki Ochi, Yasumasa Ohyagi, Hiroki Shibata
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A. Human genome variation 11 (1) (2024)
Shunichi Kosugi, Chikashi Terao
Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data. Human genome variation 11 (1) (2024)
Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. Human genome variation 11 (1) (2024)
Nur Aisyah Aziz, Nurul Hidayah Musa, Melina Mathews, Komalah Thevii Rajenderan, Faidatul Syazlin Abdul Hamid, Syahzuwan Hassan, Syahira Lazira Omar, Wan Nurul Afiqha Binti Wan Yusoff, Melanie Ling Binti Mohd Din, Nurul Amira Binti Jamaludin, Wan Rohani Wan Taib, Ezalia Esa, Norafiza Mohd Yasin
Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis. Human genome variation 11 (1) (2024)
Shunichi Kosugi, Chikashi Terao
Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data. Human genome variation 11 (1) (2024)
Nur Aisyah Aziz, Nurul Hidayah Musa, Melina Mathews, Komalah Thevii Rajenderan, Faidatul Syazlin Abdul Hamid, Syahzuwan Hassan, Syahira Lazira Omar, Wan Nurul Afiqha Binti Wan Yusoff, Melanie Ling Binti Mohd Din, Nurul Amira Binti Jamaludin, Wan Rohani Wan Taib, Ezalia Esa, Norafiza Mohd Yasin
Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis. Human genome variation 11 (1) (2024)
Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue
Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants. Human genome variation 11 (1) (2024)
Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan Ye, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu
End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy. Human genome variation 11 (1) (2024)
Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan Ye, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu
End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy. Human genome variation 11 (1) (2024)
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait. Human genome variation 11 (1) (2024)
Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino, Nobuyuki Yamamoto, Hiroyuki Awano, Yasuhiro Tanaka, Naoya Morisada, Suguru Uemura, Atsuro Saito, Daiichiro Hasegawa, Kandai Nozu, Yoshiyuki Kosaka
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency. Human genome variation 11 (1) (2024)
Hasan Azizi, Mortaza Bonyadi, Abbas Rafat
A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome. Human genome variation 11 (1) (2024)
Nobue Takaiso, Issei Imoto, Akiyo Yoshimura, Akira Ouchi, Koji Komori, Hiroji Iwata, Yasuhiro Shimizu
BARD1 deletion in a patient with suspected hereditary colorectal cancer. Human genome variation 11 (1) (2024)
Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino, Nobuyuki Yamamoto, Hiroyuki Awano, Yasuhiro Tanaka, Naoya Morisada, Suguru Uemura, Atsuro Saito, Daiichiro Hasegawa, Kandai Nozu, Yoshiyuki Kosaka
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency. Human genome variation 11 (1) (2024)
Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu
Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient. Human genome variation 11 (1) (2024)
Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito
A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins. Human genome variation 11 (1) (2024)
Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant. Human genome variation 11 (1) (2024)
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait. Human genome variation 11 (1) (2024)
Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Satoru Miyabe, Satoshi Watanabe, Shogo Hasegawa, Hitoshi Miyachi, Junichiro Machida, Mitsuo Goto, Yoshihito Tokita
Novel frameshift variant of WNT10A in a Japanese patient with hypodontia. Human genome variation 11 (1) (2024)
Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová
A recurrent synonymous L1CAM variant in a fetus with hydrocephalus. Human genome variation 11 (1) (2024)
Erina Tonouchi, Kei-Ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda
NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas. Human genome variation 11 (1) (2024)
Namiki Nagata, Hiroshi Kurosaka, Kotaro Higashi, Masaya Yamaguchi, Sayuri Yamamoto, Toshihiro Inubushi, Miho Nagata, Yasuki Ishihara, Ayumi Yonei, Yohei Miyashita, Yoshihiro Asano, Norio Sakai, Yasushi Sakata, Shigetada Kawabata, Takashi Yamashiro
Characteristic craniofacial defects associated with a novel USP9X truncation mutation. Human genome variation 11 (1) (2024)
Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi
Novel variant of FBN2 in a patient with congenital contractual arachnodactyly. Human genome variation 11 (1) (2024)
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
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation 11 (1) (2024)
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
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation 11 (1) (2024)
Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression. Human genome variation 11 (1) (2024)