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Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis Goto, Yusuke; Niihori, Tetsuya; Mizuno, Seiji; Okamoto, Nobuhiko; Ogata, Tsutomu; Kurosawa, Kenji; Ohashi, Hirofumi; Matsubara, Yoichi; Abe, Taiki; Kikuchi, Atsuo; Aoki, Yoko Share Save
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome Le May, Nicolas; Courraud, Jeremie; Boujelbene, Imene; Obringer, Cathy; Ogi, Tomoo; Lehmann, Alan R.; Laffargue, Fanny; Lehalle, Daphne; Mizuno, Seiji; Mohammed, Shehla; Ormieres, Clothilde; Willems, Marjolaine; Laugel, Vincent; Calmels, Nadege Share Save
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm Sugimoto, Takeshi; Inagaki, Hidehito; Mariya, Tasuku; Kawamura, Rie; Taniguchi-Ikeda, Mariko; Mizuno, Seiji; Muramatsu, Yukako; Tsuge, Ikuya; Ohashi, Hirofumi; Saito, Nakamichi; Hasegawa, Yuiko; Ochi, Nobuhiko; Yamaguchi, Masatoshi; Murotsuki, Jun; Kurahashi, Hiroki Share Save
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome Otsuji, Shiomi; Nishio, Yosuke; Tsujita, Maki; Rio, Marlene; Huber, Celine; Anton-Plagaro, Carlos; Mizuno, Seiji; Kawano, Yoshihiko; Miyatake, Satoko; Simon, Marleen; van Binsbergen, Ellen; van Jaarsveld, Richard H.; Matsumoto, Naomichi; Cormier-Daire, Valerie; Cullen, Peter J.; Saitoh, Shinji; Kato, Kohji Share Save
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases Narita, Kotaro; Muramatsu, Hideki; Narumi, Satoshi; Nakamura, Yuji; Okuno, Yusuke; Suzuki, Kyogo; Hamada, Motoharu; Yamaguchi, Naoya; Suzuki, Atsushi; Nishio, Yosuke; Shiraki, Anna; Yamamori, Ayako; Tsumura, Yusuke; Sawamura, Fumi; Kawaguchi, Masahiro; Wakamatsu, Manabu; Kataoka, Shinsuke; Kato, Kohji; Asada, Hideyuki; Kubota, Tetsuo; Muramatsu, Yukako; Kidokoro, Hiroyuki; Natsume, Jun; Mizuno, Seiji; Nakata, Tomohiko; Inagaki, Hidehito; Ishihara, Naoko; Yonekawa, Takahiro; Okumura, Akihisa; Ogi, Tomoo; Kojima, Seiji; Kaname, Tadashi; Hasegawa, Tomonobu; Saitoh, Shinji; Takahashi, Yoshiyuki Share Save
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 Faundes, Victor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T.; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valerie; Lederer, Damien; Banka, Siddharth Share Save
Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital Nishida, Yoshihiro; Ikuta, Kunihiro; Natsume, Atsushi; Ishihara, Naoko; Morikawa, Maki; Kidokoro, Hiroyuki; Muramatsu, Yukako; Nonobe, Norie; Ishizuka, Kanako; Takeichi, Takuya; Kanbe, Miki; Mizuno, Seiji; Imagama, Shiro; Ozaki, Norio Share Save
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants Zarate, Yuri A.; Uehara, Tomoko; Abe, Kota; Oginuma, Masayuki; Harako, Sora; Ishitani, Shizuka; Lehesjoki, Anna-Elina; Bierhals, Tatjana; Kloth, Katja; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Anderson, Katherine; Viskochil, David; Edgar-Zarate, Courtney L.; Sacoto, Maria J. Guillen; Schnur, Rhonda E.; Morrow, Michelle M.; Sanchez-Valle, Amarilis; Pappas, John; Rabin, Rachel; Muona, Mikko; Anttonen, Anna-Kaisa; Platzer, Konrad; Luppe, Johannes; Gburek-Augustat, Janina; Kaname, Tadashi; Okamoto, Nobuhiko; Mizuno, Seiji; Kaido, Yusaku; Ohkuma, Yoshiaki; Hirose, Yutaka; Ishitani, Tohru; Kosaki, Kenjiro Share Save
Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome Oka, Yasuyoshi; Hamada, Motoharu; Nakazawa, Yuka; Muramatsu, Hideki; Okuno, Yusuke; Higasa, Koichiro; Shimada, Mayuko; Takeshima, Honoka; Hanada, Katsuhiro; Hirano, Taichi; Kawakita, Toshiro; Sakaguchi, Hirotoshi; Ichimura, Takuya; Ozono, Shuichi; Yuge, Kotaro; Watanabe, Yoriko; Kotani, Yuko; Yamane, Mutsumi; Kasugai, Yumiko; Tanaka, Miyako; Suganami, Takayoshi; Nakada, Shinichiro; Mitsutake, Norisato; Hara, Yuichiro; Kato, Kohji; Mizuno, Seiji; Miyake, Noriko; Kawai, Yosuke; Tokunaga, Katsushi; Nagasaki, Masao; Kito, Seiji; Isoyama, Keiichi; Onodera, Masafumi; Kaneko, Hideo; Matsumoto, Naomichi; Matsuda, Fumihiko; Matsuo, Keitaro; Takahashi, Yoshiyuki; Mashimo, Tomoji; Kojima, Seiji; Ogi, Tomoo Share Save
Mowat-Wilson syndrome: growth charts Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; Accorsi, Patrizia; Adam, Margaret P.; Avela, Kristina; Badura-Stronka, Magdalena; Bayat, Allan; Clayton-Smith, Jill; Cocco, Isabella; Cordelli, Duccio Maria; Cuturilo, Goran; Di Pisa, Veronica; Garcia, Juliette Dupont; Gastaldi, Roberto; Giordano, Lucio; Guala, Andrea; Hoei-Hansen, Christina; Inaba, Mie; Iodice, Alessandro; Nielsen, Jens Erik Klint; Kuburovic, Vladimir; Lazalde-Medina, Brissia; Malbora, Baris; Mizuno, Seiji; Moldovan, Oana; Moller, Rikke S.; Muschke, Petra; Otelli, Valeria; Pantaleoni, Chiara; Piscopo, Carmelo; Poch-Olive, Maria Luisa; Prpic, Igor; Reina, Purificacion Marin; Raviglione, Federico; Ricci, Emilia; Scarano, Emanuela; Simonte, Graziella; Smigiel, Robert; Tanteles, George; Tarani, Luigi; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Writzl, Karin; Callewaert, Bert; Savasta, Salvatore; Street, Maria Elisabeth; Iughetti, Lorenzo; Bernasconi, Sergio; Rossi, Paolo Giorgi; Garavelli, Livia Share Save
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications Kato, Takema; Inagaki, Hidehito; Miyai, Syunsuke; Suzuki, Fumihiko; Naru, Yuki; Shinkai, Yasuko; Kato, Asuka; Kanyama, Kazuo; Mizuno, Seiji; Muramatsu, Yukako; Yamamoto, Toshiyuki; Shinya, Mitsuhisa; Tazaki, Yukiko; Hiwatashi, Sayuri; Ikeda, Toshiro; Ozaki, Mamoru; Kurahashi, Hiroki Share Save
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment Fiordaliso, Sarah K.; Iwata-Otsubo, Aiko; Ritter, Alyssa L.; Quesnel-Vallieres, Mathieu; Fujiki, Katsunori; Nishi, Eriko; Hancarova, Miroslava; Miyake, Noriko; Morton, Jenny E. V.; Lee, Sangmoon; Hackmann, Karl; Bando, Masashige; Masuda, Koji; Nakato, Ryuichiro; Arakawa, Michiko; Bhoj, Elizabeth; Li, Dong; Hakonarson, Hakon; Takeda, Ryojun; Harr, Margaret; Keena, Beth; Zackai, Elaine H.; Okamoto, Nobuhiko; Mizuno, Seiji; Ko, Jung Min; Valachova, Alica; Prchalova, Darina; Vlckova, Marketa; Pippucci, Tommaso; Seiler, Christoph; Choi, Murim; Matsumoto, Naomichi; Di Donato, Nataliya; Barash, Yoseph; Sedlacek, Zdenek; Shirahige, Katsuhiko; Izumi, Kosuke Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies Nixon, Kevin C. J.; Rousseau, Justine; Stone, Max H.; Sarikahya, Mohammed; Ehresmann, Sophie; Mizuno, Seiji; Matsumoto, Naomichi; Miyake, Noriko; Baralle, Diana; McKee, Shane; Izumi, Kosuke; Ritter, Alyssa L.; Heide, Solveig; Heron, Delphine; Depienne, Christel; Titheradge, Hannah; Kramer, Jamie M.; Campeau, Philippe M. Share Save
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