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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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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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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Gut microbiota of one-and-a-half-year-old food-allergic and healthy children von Hara, Monami, Suzuki, Hisato, Hayashi, Daisuke, Morii, Wataru, Nakamura, Takako, Kiyoki, Kaori, Hara, Hideki, Ishii, Ryota, Noguchi, Emiko, Takada, Hidetoshi

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Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1 von Kawahara, Sakura, Imagawa, Kazuo, Suzuki, Hisato, Ohto, Tatsuyuki, Takada, Hidetoshi

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Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report von Ouchi, Shogo, Ishii, Kazuhiro, Kosaki, Kenjiro, Suzuki, Hisato, Yamada, Mamiko, Takenouchi, Toshiki, Tamaoka, Akira

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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 structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis von Watanabe, Daisuke, Okamoto, Nobuhiko, Kobayashi, Yuichi, Suzuki, Hisato, Kato, Mitsuhiro, Saitoh, Shinji, Kanemura, Yonehiro, Takenouchi, Toshiki, Yamada, Mamiko, Nakato, Daisuke, Sato, Masayuki, Tsunoda, Tatsuhiko, Kosaki, Kenjiro, Miya, Fuyuki

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Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration von Yamada, Mamiko, Maeta, Kazuhiro, Suzuki, Hisato, Kurosawa, Ryo, Takenouchi, Toshiki, Awaya, Tomonari, Ajiro, Masahiko, Takeuchi, Atsuko, Nishio, Hisahide, Hagiwara, Masatoshi, Miya, Fuyuki, Matsuo, Masafumi, 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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Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy von Hayashi, Takahiro, Yano, Naoko, Kora, Kengo, Yokoyama, Atsushi, Maizuru, Kanako, Kayaki, Taisei, Nishikawa, Kinuko, Osawa, Mitsujiro, Niwa, Akira, Takenouchi, Toshiki, Hijikata, Atsushi, Shirai, Tsuyoshi, Suzuki, Hisato, Kosaki, Kenjiro, Saito, Megumu K, Takita, Junko, Yoshida, Takeshi

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Familial café‐au‐lait macules associated with in‐frame deletion of NF1 p.Met992del mimicking Legius syndrome von Nakato, Daisuke, Yamada, Mamiko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro

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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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Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption von Yamada, Mamiko, Suzuki, Hisato, Miya, Fuyuki, Kosugiyama, Kiyotaka, Ujiie, Takeshi, Tonoki, Hidefumi, Kosaki, Kenjiro

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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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Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report von Yamada, Mamiko, Suzuki, Hisato, Adachi, Hiroyuki, Noguchi, Atsuko, Miya, Fuyuki, Takahashi, Tsutomu, Kosaki, Kenjiro

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A novel functional IKBKE variant activating NFAT in a patient with polyarthritis and a remittent fever von Yamada, Saeko, Nagafuchi, Yasuo, Yamada, Mamiko, Suzuki, Hisato, Natsumoto, Bunki, Ota, Mineto, Takazawa, Ikuo, Hatano, Hiroaki, Kono, Masanori, Harada, Hiroaki, Shoda, Hirofumi, Okamura, Tomohisa, Kosaki, Kenjiro, Fujio, Keishi

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Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations von Suzuki, Hisato, Nozaki, Masatoshi, Yoshihashi, Hiroshi, Imagawa, Kazuo, Kajikawa, Daigo, Yamada, Mamiko, Yamaguchi, Yu, Morisada, Naoya, Eguchi, Mayuko, Ohashi, Shoko, Ninomiya, Shinsuke, Seto, Toshiyuki, Tokutomi, Tomoharu, Hida, Mariko, Toyoshima, Katsuaki, Kondo, Masatoshi, Inui, Ayano, Kurosawa, Kenji, Kosaki, Rika, Ito, Yushi, Okamoto, Nobuhiko, Kosaki, Kenjiro, Takenouchi, Toshiki

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Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis von Mori, Mioko, Kumada, Tomohiro, Inoue, Kenji, Nozaki, Fumihito, Matsui, Katsuyuki, Maruo, Yoshihiro, Yamada, Mamiko, Suzuki, Hisato, Kosaki, Kenjiro, Shibata, Minoru

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