Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features by Keiko Shimojima Yamamoto, Ayumi Yoshimura, Toshiyuki Yamamoto

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Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures by Keiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto, Yusaku Miyamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Toshiyuki Yamamoto

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Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis by Keiko Shimojima Yamamoto, Taiju Utshigisawa, Hiromi Ogura, Takako Aoki, Takahiro Kawakami, Shoichi Ohga, Akira Ohara, Etsuro Ito, Toshiyuki Yamamoto, Hitoshi Kanno

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Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis by 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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Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder by 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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Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis by 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, Hitoshi Kanno

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