Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N
European journal of human genetics : EJHG 27(3) 378-383 Mar 2019 [Refereed]
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH, University of Washington Center for Mendelian Genomics., DDD Study., Reis A, Sticht H, Zweier C
American journal of human genetics 103(2) 305-316 Aug 2018 [Refereed]
Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T
Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N
Journal of human genetics 63(12) 1223-1229 Dec 2018 [Refereed]
Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N
Clinical genetics 94(6) 538-547 Dec 2018 [Refereed]
Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N
Annals of neurology 84(6) 843-853 Dec 2018 [Refereed]
Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N
Annals of neurology 84(6) 814-828 Dec 2018 [Refereed]
Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M
Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M, Japan Early Onset Scoliosis Research Group., Watanabe K, Ikegawa S
Molecular genetics & genomic medicine 6(6) 966-974 Nov 2018 [Refereed]
Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI
Brain : a journal of neurology 141(11) 3098-3114 Nov 2018 [Refereed]
Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N
Genetics in medicine : official journal of the American College of Medical Genetics Nov 2018 [Refereed]
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, DDD Study,., Arboleda VA, Newbury-Ecob R
Genetics in medicine : official journal of the American College of Medical Genetics Sep 2018 [Refereed]
Takeguchi R, Haginoya K, Uchiyama Y, Fujita A, Nagura M, Takeshita E, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M
Brain & development 40(8) 728-732 Sep 2018 [Refereed]
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V, C4RCD Research Group., Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R
Brain : a journal of neurology 141(6) 1703-1718 Jun 2018 [Refereed]
Suzuki-Muromoto S, Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kato A, Oba H, Nakashima M, Saitsu H, Matsumoto N, Haginoya K
Journal of human genetics 63(6) 749-753 Jun 2018 [Refereed]
Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N
British journal of haematology 181(6) 843-847 Jun 2018 [Refereed]
Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I
American journal of human genetics 102(4) 557-573 Apr 2018 [Refereed]
Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N
Annals of neurology 83(4) 794-806 Apr 2018 [Refereed]
Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, Sekiguchi F, Miyatake S, Mizuguchi T, Nakashima M, Ogata K, Takeda S, Matsumoto N, Miyake N
Journal of human genetics 63(4) 425-430 Apr 2018 [Refereed]
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N
Human molecular genetics 27(8) 1421-1433 Apr 2018 [Refereed]
Doi H, Koyano S, Miyatake S, Nakajima S, Nakazawa Y, Kunii M, Tomita-Katsumoto A, Oda K, Yamaguchi Y, Fukai R, Ikeda S, Kato R, Ogata K, Kubota S, Hayashi N, Takahashi K, Tada M, Tanaka K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogi T, Aihara M, Takeuchi H, Matsumoto N, Tanaka F
Journal of human genetics 63(4) 417-423 Apr 2018 [Refereed]
Akamine S, Sagata N, Sakai Y, Kato TA, Nakahara T, Matsushita Y, Togao O, Hiwatashi A, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T, Sawa A, Kano S, Furue M, Kanba S, Shaw CA, Ohga S
Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H
Annals of clinical and translational neurology 5(3) 280-296 Mar 2018 [Refereed]
Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, Matsumoto N, Ohga S
European journal of medical genetics Mar 2018 [Refereed]
Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T
American journal of human genetics 102(3) 480-486 Mar 2018 [Refereed]
Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N
Journal of human genetics 63(3) 263-270 Mar 2018 [Refereed]
Mutoh H, Kato M, Akita T, Shibata T, Wakamoto H, Ikeda H, Kitaura H, Aoto K, Nakashima M, Wang T, Ohba C, Miyatake S, Miyake N, Kakita A, Miyake K, Fukuda A, Matsumoto N, Saitsu H
American journal of human genetics Jan 2018 [Refereed]
Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A
Iwashita H, Okudela K, Matsumura M, Yamanaka S, Sawazumi T, Enaka M, Udaka N, Miyake A, Hibiya T, Miyake N, Matsumoto N, Makiyama K, Yao M, Nagashima Y, Ohashi K
Pathology international 67(11) 585-589 Nov 2017 [Refereed]
Kurahashi N, Miyake N, Mizuno S, Koshimizu E, Kurahashi H, Yamada K, Natsume J, Aoki Y, Nakamura M, Taniai H, Maki Y, Abe-Hatano C, Matsumoto N, Maruyama K
Brain & development 39(8) 672-677 Sep 2017 [Refereed]
Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N
Clinical genetics 92(2) 180-187 Aug 2017 [Refereed]
Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S
Imagawa E, Higashimoto K, Sakai Y, Numakura C, Okamoto N, Matsunaga S, Ryo A, Sato Y, Sanefuji M, Ihara K, Takada Y, Nishimura G, Saitsu H, Mizuguchi T, Miyatake S, Nakashima M, Miyake N, Soejima H, Matsumoto N
