Apolipoprotein C‐III O‐glycoform profiling of 500 serum samples by matrix‐assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylat... von Wada, Yoshinao, Okamoto, Nobuhiko

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Macrothrombocytopenia of Takenouchi-Kosaki syndrome is ameliorated by CDC42 specific- and lipidation inhibitors in MEG-01 cells von Daimon, Etsuko, Shibukawa, Yukinao, Thanasegaran, Suganya, Yamazaki, Natsuko, Okamoto, Nobuhiko

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Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms von Seyama, Rie, Tsuchida, Naomi, Okada, Yasuyuki, Sakata, Sonoko, Hamada, Keisuke, Azuma, Yoshiteru, Hamanaka, Kohei, Fujita, Atsushi, Koshimizu, Eriko, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Itakura, Atsuo, Okada, Satoshi, Okamoto, Nobuhiko, Ogata, Kazuhiro, Uchiyama, Yuri, Matsumoto, Naomichi

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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome von Aoki, Yoko, Niihori, Tetsuya, Banjo, Toshihiro, Okamoto, Nobuhiko, Mizuno, Seiji, Kurosawa, Kenji, Ogata, Tsutomu, Takada, Fumio, Yano, Michihiro, Ando, Toru, Hoshika, Tadataka, Barnett, Christopher, Ohashi, Hirofumi, Kawame, Hiroshi, Hasegawa, Tomonobu, Okutani, Takahiro, Nagashima, Tatsuo, Hasegawa, Satoshi, Funayama, Ryo, Nagashima, Takeshi, Nakayama, Keiko, Inoue, Shin-ichi, Watanabe, Yusuke, Ogura, Toshihiko, Matsubara, Yoichi

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Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia von Takenouchi, Toshiki, Okamoto, Nobuhiko, Ida, Shinobu, Uehara, Tomoko, Kosaki, Kenjiro

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ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome von Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomichi

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome von Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Ohashi, Hirofumi, Kosho, Tomoki, Imai, Yoko, Hibi-Ko, Yumiko, Kaname, Tadashi, Naritomi, Kenji, Kawame, Hiroshi, Wakui, Keiko, Fukushima, Yoshimitsu, Homma, Tomomi, Kato, Mitsuhiro, Hiraki, Yoko, Yamagata, Takanori, Yano, Shoji, Mizuno, Seiji, Sakazume, Satoru, Ishii, Takuma, Nagai, Toshiro, Shiina, Masaaki, Ogata, Kazuhiro, Ohta, Tohru, Niikawa, Norio, Miyatake, Satoko, Okada, Ippei, Mizuguchi, Takeshi, Doi, Hiroshi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi

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Modelling Takenouchi-Kosaki syndrome using disease-specific iPSCs von Thanasegaran, Suganya, Daimon, Etsuko, Shibukawa, Yukinao, Yamazaki, Natsuko, Okamoto, Nobuhiko

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Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing von Yamada, Mamiko, Okuno, Hironobu, Okamoto, Nobuhiko, Suzuki, Hisato, Miya, Fuyuki, Takenouchi, Toshiki, Kosaki, Kenjiro

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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features von Kameyama, Shinichi, Mizuguchi, Takeshi, Fukuda, Hiromi, Moey, Lip Hen, Keng, Wee Teik, Okamoto, Nobuhiko, Tsuchida, Naomi, Uchiyama, Yuri, Koshimizu, Eriko, Hamanaka, Kohei, Fujita, Atsushi, Miyatake, Satoko, Matsumoto, Naomichi

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KDM6A Point Mutations Cause Kabuki Syndrome von Miyake, Noriko, Mizuno, Seiji, Okamoto, Nobuhiko, Ohashi, Hirofumi, Shiina, Masaaki, Ogata, Kazuhiro, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Niikawa, Norio, Matsumoto, Naomichi

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A novel mutation in the GATAD2B gene associated with severe intellectual disability von Ueda, Kimiko, Yanagi, Kumiko, Kaname, Tadashi, Okamoto, Nobuhiko

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Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model von Uehara, Tomoko, Suzuki, Hidenori, Okamoto, Nobuhiko, Kondoh, Tatsuro, Ahmad, Ayesha, O’Connor, Bridget C., Yoshina, Sawako, Mitani, Shohei, Kosaki, Kenjiro, Takenouchi, Toshiki

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Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases von Kato, Daiki, Mitsuhashi, Satomi, Miya, Fuyuki, Saitoh, Shinji, Okamoto, Nobuhiko, Tsunoda, Tatsuhiko, Kochi, Yuta

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Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome von Imagawa, Eri, Higashimoto, Ken, Sakai, Yasunari, Numakura, Chikahiko, Okamoto, Nobuhiko, Matsunaga, Satoko, Ryo, Akihide, Sato, Yoshinori, Sanefuji, Masafumi, Ihara, Kenji, Takada, Yui, Nishimura, Gen, Saitsu, Hirotomo, Mizuguchi, Takeshi, Miyatake, Satoko, Nakashima, Mitsuko, Miyake, Noriko, Soejima, Hidenobu, Matsumoto, Naomichi

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Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate O-glycan Site Occupancy and Sialylation in Congenital Disorders of Glycosylation von Wada, Yoshinao, Okamoto, Nobuhiko

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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism von Seyama, Rie, Uchiyama, Yuri, Kaneshi, Yosuke, Hamanaka, Kohei, Fujita, Atsushi, Tsuchida, Naomi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Itakura, Atsuo, Okamoto, Nobuhiko, Matsumoto, Naomichi

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Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study von Kimizu, Tomokazu, Ida, Shinobu, Oki, Keisuke, Shima, Morimasa, Nishimoto, Shizuka, Nakajima, Ken, Ikeda, Tae, Mogami, Yukiko, Yanagihara, Keiko, Matsuda, Keiko, Nishi, Eriko, Hasegawa, Yuiko, Nozaki, Masatoshi, Fujita, Hiroshi, Irie, Akemi, Katayama, Toru, Okamoto, Nobuhiko, Imai, Kohsuke, Nishio, Hisahide, Suzuki, Yasuhiro

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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICP... von Hayashi, Shin, Uehara, Daniela Tiaki, Tanimoto, Kousuke, Mizuno, Seiji, Chinen, Yasutsugu, Fukumura, Shinobu, Takanashi, Jun-Ichi, Osaka, Hitoshi, Okamoto, Nobuhiko, Inazawa, Johji

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Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation von Wada, Yoshinao, Okamoto, Nobuhiko

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