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SaveShare Save Share Save Share Save Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum
Higashimoto, Ken; Sun, Feifei; Imagawa, Eri; Saida, Ken; Miyake, Noriko; Hara, Satoshi; Yatsuki, Hitomi; Kubiura-Ichimaru, Musashi; Fujita, Atsushi; Mizuguchi, Takeshi; Matsumoto, Naomichi; Soejima, Hidenobu Share Save Prenatal clinical manifestations in individuals with COL4A1/2 variantsItai, Toshiyuki; Miyatake, Satoko; Taguri, Masataka; Nozaki, Fumihito; Ohta, Masayasu; Osaka, Hitoshi; Morimoto, Masafumi; Tandou, Tomoko; Nohara, Fumikatsu; Takami, Yuichi; Yoshioka, Fumitaka; Shimokawa, Shoko; Okuno-Yuguchi, Jiu; Motobayashi, Mitsuo; Takei, Yuko; Fukuyama, Tetsuhiro; Kumada, Satoko; Miyata, Yohane; Ogawa, Chikako; Maki, Yuki; Togashi, Noriko; Ishikura, Teruyuki; Kinoshita, Makoto; Mitani, Yusuke; Kanemura, Yonehiro; Omi, Tsuyoshi; Ando, Naoki; Hattori, Ayako; Saitoh, Shinji; Kitai, Yukihiro; Hirai, Satori; Arai, Hiroshi; Ishida, Fumihiko; Taniguchi, Hidetoshi; Kitabatake, Yasuji; Ozono, Keiichi; Nabatame, Shin; Smigiel, Robert; Kato, Mitsuhiro; Tanda, Koichi; Saito, Yoshihiko; Ishiyama, Akihiko; Noguchi, Yushi; Miura, Mazumi; Nakano, Takaaki; Hirano, Keiko; Honda, Ryoko; Kuki, Ichiro; Takanashi, Jun-ichi; Takeuchi, Akihito; Fukasawa, Tatsuya; Seiwa, Chizuru; Harada, Atsuko; Yachi, Yusuke; Higashiyama, Hiroyuki; Terashima, Hiroshi; Kumagai, Tadayuki; Hada, Satoshi; Abe, Yoshiichi; Miyagi, Etsuko; Uchiyama, Yuri; Fujita, Atsushi; Imagawa, Eri; Azuma, Yoshiteru; Hamanaka, Kohei; Koshimizu, Eriko; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Tsurusaki, Yoshinori; Doi, Hiroshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Matsumoto, Naomichi Share Save DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesChoufani, Sanaa; Gibson, William T.; Turinsky, Andrei L.; Chung, Brian H. Y.; Wang, Tianren; Garg, Kopal; Vitriolo, Alessandro; Cohen, Ana S. A.; Cyrus, Sharri; Goodman, Sarah; Chater-Diehl, Eric; Brzezinski, Jack; Brudno, Michael; Ming, Luk Ho; White, Susan M.; Lynch, Sally Ann; Clericuzio, Carol; Temple, I. Karen; Flinter, Frances; McConnell, Vivienne; Cushing, Tom; Bird, Lynne M.; Splitt, Miranda; Kerr, Bronwyn; Scherer, Stephen W.; Machado, Jerry; Imagawa, Eri; Okamoto, Nobuhiko; Matsumoto, Naomichi; Testa, Guiseppe; Iascone, Maria; Tenconi, Romano; Caluseriu, Oana; Mendoza-Londono, Roberto; Chitayat, David; Cytrynbaum, Cheryl; Tatton-Brown, Katrina; Weksberg, Rosanna Share Save De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic EpilepsyHamanaka, Kohei; Imagawa, Eri; Koshimizu, Eriko; Miyatake, Satoko; Tohyama, Jun; Yamagata, Takanori; Miyauchi, Akihiko; Ekhilevitch, Nina; Nakamura, Fumio; Kawashima, Takeshi; Goshima, Yoshio; Mohamed, Ahmad Rithauddin; Ch'ng, Gaik-Siew; Fujita, Atsushi; Azuma, Yoshiteru; Yasuda, Ken; Imamura, Shintaro; Nakashima, Mitsuko; Saitsu, Hirotomo; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Matsumoto, Naomichi Share Save RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathyHamanaka, Kohei; Miyatake, Satoko; Koshimizu, Eriko; Tsurusaki, Yoshinori; Mitsuhashi, Satomi; Iwama, Kazuhiro; Alkanaq, Ahmed N.; Fujita, Atsushi; Imagawa, Eri; Uchiyama, Yuri; Tawara, Nozomu; Ando, Yukio; Misumi, Yohei; Okubo, Mariko; Nakashima, Mitsuko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Iida, Aritoshi; Nishino, Ichizo; Matsumoto, Naomichi Share Save Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathyTakata, Atsushi; Nakashima, Mitsuko; Saitsu, Hirotomo; Mizuguchi, Takeshi; Mitsuhashi, Satomi; Takahashi, Yukitoshi; Okamoto, Nobuhiko; Osaka, Hitoshi; Nakamura, Kazuyuki; Tohyama, Jun; Haginoya, Kazuhiro; Takeshita, Saoko; Kuki, Ichiro; Okanishi, Tohru; Goto, Tomohide; Sasaki, Masayuki; Sakai, Yasunari; Miyake, Noriko; Miyatake, Satoko; Tsuchida, Naomi; Iwama, Kazuhiro; Minase, Gaku; Sekiguchi, Futoshi; Fujita, Atsushi; Imagawa, Eri; Koshimizu, Eriko; Uchiyama, Yuri; Hamanaka, Kohei; Ohba, Chihiro; Itai, Toshiyuki; Aoi, Hiromi; Saida, Ken; Sakaguchi, Tomohiro; Den, Kouhei; Takahashi, Rina; Ikeda, Hiroko; Yamaguchi, Tokito; Tsukamoto, Kazuki; Yoshitomi, Shinsaku; Oboshi, Taikan; Imai, Katsumi; Kimizu, Tomokazu; Kobayashi, Yu; Kubota, Masaya; Kashii, Hirofumi; Baba, Shimpei; Iai, Mizue; Kira, Ryutaro; Hara, Munetsugu; Ohta, Masayasu; Miyata, Yohane; Miyata, Rie; Takanashi, Jun-ichi; Matsui, Jun; Yokochi, Kenji; Shimono, Masayuki; Amamoto, Masano; Takayama, Rumiko; Hirabayashi, Shinichi; Aiba, Kaori; Matsumoto, Hiroshi; Nabatame, Shin; Shiihara, Takashi; Kato, Mitsuhiro; Matsumoto, Naomichi Share Save MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics considerationHamanaka, Kohei; Takata, Atsushi; Uchiyama, Yuri; Miyatake, Satoko; Miyake, Noriko; Mitsuhashi, Satomi; Iwama, Kazuhiro; Fujita, Atsushi; Imagawa, Eri; Alkanaq, Ahmed N.; Koshimizu, Eriko; Azuma, Yoshiki; Nakashima, Mitsuko; Mizuguchi, Takeshi; Saitsu, Hirotomo; Wada, Yuka; Minami, Sawako; Katoh-Fukui, Yuko; Masunaga, Yohei; Fukami, Maki; Hasegawa, Tomonobu; Ogata, Tsutomu; Matsumoto, Naomichi Share Save Biallelic COLGALT1 variants are associated with cerebral small vessel diseaseMiyatake, Satoko; Schneeberger, Sacha; Koyama, Norihisa; Yokochi, Kenji; Ohmura, Kayo; Shiina, Masaaki; Mori, Harushi; Koshimizu, Eriko; Imagawa, Eri; Uchiyama, Yuri; Mitsuhashi, Satomi; Frith, Martin C.; Fujita, Atsushi; Satoh, Mai; Taguri, Masataka; Tomono, Yasuko; Takahashi, Keita; Doi, Hiroshi; Takeuchi, Hideyuki; Nakashima, Mitsuko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Saitsu, Hirotomo; Tanaka, Fumiaki; Ogata, Kazuhiro; Hennet, Thierry; Matsumoto, Naomichi Share Save De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomaliesHamanaka, Kohei; Sugawara, Yuji; Shimoji, Takeyoshi; Nordtveit, Tone Irene; Kato, Mitsuhiro; Nakashima, Mitsuko; Saitsu, Hirotomo; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Aukrust, Ingvild; Houge, Gunnar; Mitsuhashi, Satomi; Takata, Atsushi; Iwama, Kazuhiro; Alkanaq, Ahmed; Fujita, Atsushi; Imagawa, Eri; Mizuguchi, Takeshi; Miyake, Noriko; Miyatake, Satoko; Matsumoto, Naomichi Share Save Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndromeImagawa, 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 Share Save Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital ScoliosisTakeda, Kazuki; Kou, Ikuyo; Kawakami, Noriaki; Iida, Aritoshi; Nakajima, Masahiro; Ogura, Yoji; Imagawa, Eri; Miyake, Noriko; Matsumoto, Naomichi; Yasuhiko, Yukuto; Sudo, Hideki; Kotani, Toshiaki; Nakamura, Masaya; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro Share Save Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathyMiyake, Noriko; Fukai, Ryoko; Ohba, Chihiro; Chihara, Takahiro; Miura, Masayuki; Shimizu, Hiroshi; Kakita, Akiyoshi; Imagawa, Eri; Shiina, Masaaki; Ogata, Kazuhiro; Okuno-Yuguchi, Jiu; Fueki, Noboru; Ogiso, Yoshifumi; Suzumura, Hiroshi; Watabe, Yoshiyuki; Imataka, George; Leong, Huey Yin; Fattal-Valevski, Aviva; Kramer, Uri; Miyatake, Satoko; Kato, Mitsuhiro; Okamoto, Nobuhiko; Sato, Yoshinori; Mitsuhashi, Satomi; Nishino, Ichizo; Kaneko, Naofumi; Nishiyama, Akira; Tamura, Tomohiko; Mizuguchi, Takeshi; Nakashima, Mitsuko; Tanaka, Fumiaki; Saitsu, Hirotomo; Matsumoto, Naomichi Share Save Homozygous p.V116*mutation in C12orf65 results in Leigh syndromeImagawa, Eri; Fattal-Valevski, Aviva; Eyal, Ori; Miyatake, Satoko; Saada, Ann; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi Share Save A hemizygous GYG2 mutation and Leigh syndrome: a possible link?Imagawa, Eri; Osaka, Hitoshi; Yamashita, Akio; Shiina, Masaaki; Takahashi, Eihiko; Sugie, Hideo; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Ogata, Kazuhiro; Matsumoto, Naomichi; Miyake, Noriko Share Save 
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