Characteristic craniofacial defects associated with a novel USP9X truncation mutation by 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

“…Human Genome Variation…”
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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia by 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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Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX by Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto

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A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome by Hasan Azizi, Mortaza Bonyadi, Abbas Rafat

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Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait by Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto

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Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing by Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita

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Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion by Moritz Otto, Yichen Zheng, Paul Grablowitz, Thomas Wiehe

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The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis by Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda, Masataka Sata

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Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant by Natsuko Inagaki, Tomoya Okano, Masatake Kobayashi, Masatsune Fujii, Yoshinao Yazaki, Yasuyoshi Takei, Hisanori Kosuge, Shinji Suzuki, Takeharu Hayashi, Masahiko Kuroda, Kazuhiro Satomi

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Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy by Takeshi Imai, Satomi Mitsuhashi, Kenji Isahaya, Soichiro Shibata, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, NCBN Controls WGS Consortium, Yoshihisa Yamano

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Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature by Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura

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Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant by Takuya Sumida, Shou Ogawa, Shuichiro Higo, Yuki Kuramoto, Ryo Eto, Yoshihiko Ikeda, Congcong Sun, Junjun Li, Li Liu, Tomoka Tabata, Yoshihiro Asano, Mikio Shiba, Yasuhiro Akazawa, Daisuke Nakamura, Takafumi Oka, Tomohito Ohtani, Yasushi Sakata

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Novel variant of FBN2 in a patient with congenital contractual arachnodactyly by Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi

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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant by Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki, Yosuke Nishio, Tomoo Ogi, Jun Tohyama, Takeshi Ikeuchi

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Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia by Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto

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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes by Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia

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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant by Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka

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