A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing von Mizuguchi, Takeshi, Suzuki, Takeshi, Abe, Chihiro, Umemura, Ayako, Tokunaga, Katsushi, Kawai, Yosuke, Nakamura, Minoru, Nagasaki, Masao, Kinoshita, Kengo, Okamura, Yasunobu, Miyatake, Satoko, Miyake, Noriko, Matsumoto, Naomichi

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Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads von Mitsuhashi, Satomi, Frith, Martin C, Mizuguchi, Takeshi, Miyatake, Satoko, Toyota, Tomoko, Adachi, Hiroaki, Oma, Yoko, Kino, Yoshihiro, Mitsuhashi, Hiroaki, Matsumoto, Naomichi

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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice von Aoto, Kazushi, Kato, Mitsuhiro, Akita, Tenpei, Nakashima, Mitsuko, Mutoh, Hiroki, Akasaka, Noriyuki, Tohyama, Jun, Nomura, Yoshiko, Hoshino, Kyoko, Ago, Yasuhiko, Tanaka, Ryuta, Epstein, Orna, Ben-Haim, Revital, Heyman, Eli, Miyazaki, Takehiro, Belal, Hazrat, Takabayashi, Shuji, Ohba, Chihiro, Takata, Atsushi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo

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Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases von Mizuguchi, Takeshi, Toyota, Tomoko, Adachi, Hiroaki, Miyake, Noriko, Matsumoto, Naomichi, Miyatake, Satoko

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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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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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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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Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder von Ohori, Sachiko, Tsuburaya, Rie S, Kinoshita, Masako, Miyagi, Etsuko, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Frith, Martin C, Matsumoto, Naomichi

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De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy von Hamanaka, 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

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PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder von Mizuguchi, Takeshi, Nakashima, Mitsuko, Kato, Mitsuhiro, Yamada, Keitaro, Okanishi, Tohru, Ekhilevitch, Nina, Mandel, Hanna, Eran, Ayelet, Toyono, Miyuki, Sawaishi, Yukio, Motoi, Hirotaka, Shiina, Masaaki, Ogata, Kazuhiro, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

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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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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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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder von Takata, Atsushi, Miyake, Noriko, Tsurusaki, Yoshinori, Fukai, Ryoko, Miyatake, Satoko, Koshimizu, Eriko, Kushima, Itaru, Okada, Takashi, Morikawa, Mako, Uno, Yota, Ishizuka, Kanako, Nakamura, Kazuhiko, Tsujii, Masatsugu, Yoshikawa, Takeo, Toyota, Tomoko, Okamoto, Nobuhiko, Hiraki, Yoko, Hashimoto, Ryota, Yasuda, Yuka, Saitoh, Shinji, Ohashi, Kei, Sakai, Yasunari, Ohga, Shouichi, Hara, Toshiro, Kato, Mitsuhiro, Nakamura, Kazuyuki, Ito, Aiko, Seiwa, Chizuru, Shirahata, Emi, Osaka, Hitoshi, Matsumoto, Ayumi, Takeshita, Saoko, Tohyama, Jun, Saikusa, Tomoko, Matsuishi, Toyojiro, Nakamura, Takumi, Tsuboi, Takashi, Kato, Tadafumi, Suzuki, Toshifumi, Saitsu, Hirotomo, Nakashima, Mitsuko, Mizuguchi, Takeshi, Tanaka, Fumiaki, Mori, Norio, Ozaki, Norio, Matsumoto, Naomichi

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Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype von Kameyama, Shinichi, Mizuguchi, Takeshi, Doi, Hiroshi, Koyano, Shigeru, Okubo, Masaki, Tada, Mikiko, Shimizu, Hiroshi, Fukuda, Hiromi, Tsuchida, Naomi, Uchiyama, Yuri, Koshimizu, Eriko, Hamanaka, Kohei, Fujita, Atsushi, Misawa, Kazuharu, Miyatake, Satoko, Kanai, Kazuaki, Tanaka, Fumiaki, Matsumoto, Naomichi

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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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Recent progress in genetics of Marfan syndrome and Marfan-associated disorders von Mizuguchi, Takeshi, Matsumoto, Naomichi

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De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy von Nakashima, Mitsuko, Kato, Mitsuhiro, Aoto, Kazushi, Shiina, Masaaki, Belal, Hazrat, Mukaida, Souichi, Kumada, Satoko, Sato, Atsushi, Zerem, Ayelet, Lerman‐Sagie, Tally, Lev, Dorit, Leong, Huey Yin, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Ogata, Kazuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi

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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy von Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro, Mizuguchi, Takeshi, Hamada, Keisuke, Osaka, Hitoshi, Tohyama, Jun, Uruno, Katsuhisa, Kumada, Satoko, Nishiyama, Kiyomi, Nishimura, Akira, Okada, Ippei, Yoshimura, Yukiko, Hirai, Syu-ichi, Kumada, Tatsuro, Hayasaka, Kiyoshi, Fukuda, Atsuo, Ogata, Kazuhiro

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Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease von Tsuchida, Naomi, Kirino, Yohei, Soejima, Yutaro, Onodera, Masafumi, Arai, Katsuhiro, Tamura, Eiichiro, Ishikawa, Takashi, Kawai, Toshinao, Uchiyama, Toru, Nomura, Shigeru, Kobayashi, Daisuke, Taguri, Masataka, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Nakajima, Hideaki, Miyatake, Satoko, Matsumoto, Naomichi

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