Involvement of the zebrafish trrap gene in craniofacial development von Suzuki, Taichi, Hirai, Yo, Uehara, Tomoko, Ohga, Rie, Kosaki, Kenjiro, Kawahara, Atsuo

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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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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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Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome von Yamada, Mamiko, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro

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BCS1L mutations produce Fanconi syndrome with developmental disability von Kanako, Kojima-Ishii, Sakakibara, Nana, Murayama, Kei, Nagatani, Koji, Murata, Satoshi, Otake, Akira, Koga, Yasutoshi, Suzuki, Hisato, Uehara, Tomoko, Kosaki, Kenjiro, Yoshiura, Koh-Ichiro, Mishima, Hiroyuki, Ichimiya, Yuko, Mushimoto, Yuichi, Horinouchi, Tomoko, Nagano, China, Yamamura, Tomohiko, Iijima, Kazumoto, Nozu, Kandai

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Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype von Takenouchi, Toshiki, Miura, Kiyokuni, Uehara, Tomoko, Mizuno, Seiji, Kosaki, Kenjiro

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Growth pattern of Rahman syndrome von Takenouchi, Toshiki, Uehara, Tomoko, Kosaki, Kenjiro, Mizuno, Seiji

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Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis von Uehara, Tomoko, Yamada, Mamiko, Umetsu, Shuichiro, Nittono, Hiroshi, Suzuki, Hisato, Fujisawa, Tomoo, Takenouchi, Toshiki, Inui, Ayano, Kosaki, Kenjiro

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Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures von Suzuki, Hisato, Inaba, Mie, Yamada, Mamiko, Uehara, Tomoko, Takenouchi, Toshiki, Mizuno, Seiji, Kosaki, Kenjiro, Doi, Motomichi

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Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes von Kosaki, Rika, Kubota, Masaya, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro

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Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15 von Murakami, Hiroaki, Uehara, Tomoko, Tsurusaki, Yoshinori, Enomoto, Yumi, Kuroda, Yukiko, Aida, Noriko, Kosaki, Kenjiro, Kurosawa, Kenji

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The Tumor Suppressor BCL7B Functions in the Wnt Signaling Pathway von Uehara, Tomoko, Kage-Nakadai, Eriko, Yoshina, Sawako, Imae, Rieko, Mitani, Shohei

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Role of chimeric transcript formation in the pathogenesis of birth defects von Yamada, Mamiko, Suzuki, Hisato, Watanabe, Akiko, Uehara, Tomoko, Takenouchi, Toshiki, Mizuno, Seiji, Kosaki, Kenjiro

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Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant von Funato, Michinori, Uehara, Tomoko, Okada, Yuki, Kaneko, Hideo, Kosaki, Kenjiro

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A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30 von Ueda, Kimiko, Araki, Atsushi, Fujita, Atsushi, Matsumoto, Naomichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro, Okamoto, Nobuhiko

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Shortfall of exome analysis for diagnosis of Shwachman‐Diamond syndrome: Mismapping due to the pseudogene SBDSP1 von Yamada, Mamiko, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Inui, Ayano, Ikemiyagi, Masako, Kamimaki, Isamu, Kosaki, Kenjiro

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Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1 von Takenouchi, Toshiki, Inaba, Mie, Uehara, Tomoko, Takahashi, Takao, Kosaki, Kenjiro, Mizuno, Seiji

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Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder von Sakaguchi, Asami, Yamashita, Yukio, Ishii, Tomohiro, Uehara, Tomoko, Kosaki, Kenjiro, Takahashi, Takao, Takenouchi, Toshiki

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Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1 von Hozumi, Kaori, Fukuoka, Hidenori, Odake, Yukiko, Takeuchi, Takehito, Uehara, Tomoko, Sato, Takeshi, Inoshita, Naoko, Yoshida, Kenichi, Matsumoto, Ryusaku, Bando, Hironori, Hirota, Yushi, Iguchi, Genzo, Taniguchi, Masaaki, Otsuki, Naoki, Nishigori, Chikako, Kosaki, Kenjiro, Hasegawa, Tomonobu, Ogawa, Wataru, Takahashi, Yutaka

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Fork‐shaped mandibular incisors as a novel phenotype of LRP5‐associated disorder von Yamada, Mamiko, Kubota, Kazumi, Uchida, Atsuro, Yagihashi, Tatsuhiko, Kawasaki, Masahito, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kurosaka, Hiroshi, Kosaki, Kenjiro

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