Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan von Mishima, Hiroyuki, Suzuki, Hisato, Doi, Michiko, Miyazaki, Mutsuko, Watanabe, Satoshi, Matsumoto, Tadashi, Morifuji, Kanako, Moriuchi, Hiroyuki, Yoshiura, Koh-Ichiro, Kondoh, Tatsuro, Kosaki, Kenjiro

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A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants von Takahashi, Yoko, Kubota, Masaya, Kosaki, Rika, Kosaki, Kenjiro, Ishiguro, Akira

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Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese von Okada, Yukinori, Momozawa, Yukihide, Sakaue, Saori, Kanai, Masahiro, Ishigaki, Kazuyoshi, Akiyama, Masato, Kishikawa, Toshihiro, Arai, Yasumichi, Sasaki, Takashi, Kosaki, Kenjiro, Suematsu, Makoto, Matsuda, Koichi, Yamamoto, Kazuhiko, Kubo, Michiaki, Hirose, Nobuyoshi, Kamatani, Yoichiro

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Prevalence of Hallermann–Streiff syndrome in a Japanese pediatric population von Numabe, Hironao, Kosaki, Kenjiro

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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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Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy von Suzuki-Muromoto, Sato, Kosaki, Rika, Kosaki, Kenjiro, Kubota, Masaya

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Café-au-lait Spots and Cleft Palate: Not a Chance Association von Yamada, Mamiko, Tanito, Katsumi, Suzuki, Hisato, Nakato, Daisuke, Miya, Fuyuki, Takenouchi, Toshiki, Kosaki, Kenjiro

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Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks von Yamada, Mamiko, Arimitsu, Takeshi, Osada, Asami, Kosaki, Kenjiro

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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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Long-term clinical course of Heyn-Sproul-Jackson syndrome von Futagawa, Hiroshi, Ito, Shiho, Kosaki, Kenjiro, Yoshihashi, Hiroshi

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Pro108Ser mutation of SARS-CoV-2 3CLpro reduces the enzyme activity and ameliorates the clinical severity of COVID-19 von Abe, Kodai, Kabe, Yasuaki, Uchiyama, Susumu, Iwasaki, Yuka W., Ishizu, Hirotsugu, Uwamino, Yoshifumi, Takenouchi, Toshiki, Uno, Shunsuke, Ishii, Makoto, Maruno, Takahiro, Noda, Masanori, Murata, Mitsuru, Hasegawa, Naoki, Saya, Hideyuki, Kitagawa, Yuko, Fukunaga, Koichi, Amagai, Masayuki, Siomi, Haruhiko, Suematsu, Makoto, 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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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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Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis von Yamada, Mamiko, Arimitsu, Takeshi, Suzuki, Hisato, Miwa, Tomoru, Kosaki, Kenjiro

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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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ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children von Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi

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The effect of the E484K mutation of SARS-CoV-2 on the neutralizing activity of antibodies from BNT162b2 vaccinated individuals von Uwamino, Yoshifumi, Yokoyama, Takashi, Shimura, Takako, Nishimura, Tomoyasu, Sato, Yasunori, Wakui, Masatoshi, Kosaki, Kenjiro, Hasegawa, Naoki, Murata, Mitsuru

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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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A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter von Umeno, Junji, Hisamatsu, Tadakazu, Esaki, Motohiro, Hirano, Atsushi, Kubokura, Naoya, Asano, Kouichi, Kochi, Shuji, Yanai, Shunichi, Fuyuno, Yuta, Shimamura, Katsuyoshi, Hosoe, Naoki, Ogata, Haruhiko, Watanabe, Takashi, Aoyagi, Kunihiko, Ooi, Hidehisa, Watanabe, Kenji, Yasukawa, Shigeyoshi, Hirai, Fumihito, Matsui, Toshiyuki, Iida, Mitsuo, Yao, Tsuneyoshi, Hibi, Toshifumi, Kosaki, Kenjiro, Kanai, Takanori, Kitazono, Takanari, Matsumoto, Takayuki

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Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data von Shiraishi, Yuichi, Okada, Ai, Chiba, Kenichi, Kawachi, Asuka, Omori, Ikuko, Mateos, Raúl Nicolás, Iida, Naoko, Yamauchi, Hirofumi, Kosaki, Kenjiro, Yoshimi, Akihide

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