Department of Human Genetics

Updated on May 1, 2016

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2016

Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC Jr, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR Jr, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Ceña V, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, Ciarcia R, Ciechomska IA, Ciriolo MR, Cirone M, Claerhout S, Clague MJ, Clària J, Clarke PG, Clarke R, Clementi E, Cleyrat C, Cnop M, Coccia EM, Cocco T, Codogno P, Coers J, Cohen EE, Colecchia D, Coletto L, Coll NS, Colucci-Guyon E, Comincini S, Condello M, Cook KL, Coombs GH, Cooper CD, Cooper JM, Coppens I, Corasaniti MT, Corazzari M, Corbalan R, Corcelle-Termeau E, Cordero MD, Corral-Ramos C, Corti O, Cossarizza A, Costelli P, Costes S, Cotman SL, Coto-Montes A, Cottet S, Couve E, Covey LR, Cowart LA, Cox JS, Coxon FP, Coyne CB, Cragg MS, Craven RJ, Crepaldi T, Crespo JL, Criollo A, Crippa V, Cruz MT, Cuervo AM, Cuezva JM, Cui T, Cutillas PR, Czaja MJ, Czyzyk-Krzeska MF, Dagda RK, Dahmen U, Dai C, Dai W, Dai Y, Dalby KN, Dalla Valle L, Dalmasso G, D'Amelio M, Damme M, Darfeuille-Michaud A, Dargemont C, Darley-Usmar VM, Dasarathy S, Dasgupta B, Dash S, Dass CR, Davey HM, Davids LM, Dávila D, Davis RJ, Dawson TM, Dawson VL, Daza P, de Belleroche J, de Figueiredo P, de Figueiredo RC, de la Fuente J, De Martino L, De Matteis A, De Meyer GR, De Milito A, De Santi M, de Souza W, De Tata V, De Zio D, Debnath J, Dechant R, Decuypere JP, Deegan S, Dehay B, Del Bello B, Del Re DP, Delage-Mourroux R, Delbridge LM, Deldicque L, Delorme-Axford E, Deng Y, Dengjel J, Denizot M, Dent P, Der CJ, Deretic V, Derrien B, Deutsch E, Devarenne TP, Devenish RJ, Di Bartolomeo S, Di Daniele N, Di Domenico F, Di Nardo A, Di Paola S, Di Pietro A, Di Renzo L, DiAntonio A, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dickey CA, Dickson RC, Diederich M, Digard P, Dikic I, Dinesh-Kumar SP, Ding C, Ding WX, Ding Z, Dini L, Distler JH, Diwan A, Djavaheri-Mergny M, Dmytruk K, Dobson RC, Doetsch V, Dokladny K, Dokudovskaya S, Donadelli M, Dong XC, Dong X, Dong Z, Donohue TM Jr, Doran KS, D'Orazi G, Dorn GW 2nd, Dosenko V, Dridi S, Drucker L, Du J, Du LL, Du L, du Toit A, Dua P, Duan L, Duann P, Dubey VK, Duchen MR, Duchosal MA, Duez H, Dugail I, Dumit VI, Duncan MC, Dunlop EA, Dunn WA Jr, Dupont N, Dupuis L, Durán RV, Durcan TM, Duvezin-Caubet S, Duvvuri U, Eapen V, Ebrahimi-Fakhari D, Echard A, Eckhart L, Edelstein CL, Edinger AL, Eichinger L, Eisenberg T, Eisenberg-Lerner A, Eissa NT, El-Deiry WS, El-Khoury V, Elazar Z, Eldar-Finkelman H, Elliott CJ, Emanuele E, Emmenegger U, Engedal N, Engelbrecht AM, Engelender S, Enserink JM, Erdmann R, Erenpreisa J, Eri R, Eriksen JL, Erman A, Escalante R, Eskelinen EL, Espert L, Esteban-Martínez L, Evans TJ, Fabri M, Fabrias G, Fabrizi C, Facchiano A, Færgeman NJ, Faggioni A, Fairlie WD, Fan C, Fan D, Fan J, Fang S, Fanto M, Fanzani A, Farkas T, Faure M, Favier FB, Fearnhead H, Federici M, Fei E, Felizardo TC, Feng H, Feng Y, Feng Y, Ferguson TA, Fernández ÁF, Fernandez-Barrena MG, Fernandez-Checa JC, Fernández-López A, Fernandez-Zapico ME, Feron O, Ferraro E, Ferreira-Halder CV, Fesus L, Feuer R, Fiesel FC, Filippi-Chiela EC, Filomeni G, Fimia GM, Fingert JH, Finkbeiner S, Finkel T, Fiorito F, Fisher PB, Flajolet M, Flamigni F, Florey O, Florio S, Floto RA, Folini M, Follo C, Fon EA, Fornai F, Fortunato F, Fraldi A, Franco R, Francois A, François A, Frankel LB, Fraser ID, Frey N, Freyssenet DG, Frezza C, Friedman SL, Frigo DE, Fu D, Fuentes JM, Fueyo J, Fujitani Y, Fujiwara Y, Fujiya M, Fukuda M, Fulda S, Fusco C, Gabryel B, Gaestel M, Gailly P, Gajewska M, Galadari S, Galili G, Galindo I, Galindo MF, Galliciotti G, Galluzzi L, Galluzzi L, Galy V, Gammoh N, Gandy S, Ganesan AK, Ganesan S, Ganley IG, Gannagé M, Gao FB, Gao F, Gao JX, García Nannig L, García Véscovi E, Garcia-Macía M, Garcia-Ruiz C, Garg AD, Garg PK, Gargini R, Gassen NC, Gatica D, Gatti E, Gavard J, Gavathiotis E, Ge L, Ge P, Ge S, Gean PW, Gelmetti V, Genazzani AA, Geng J, Genschik P, Gerner L, Gestwicki JE, Gewirtz DA, Ghavami S, Ghigo E, Ghosh D, Giammarioli AM, Giampieri F, Giampietri C, Giatromanolaki A, Gibbings DJ, Gibellini L, Gibson SB, Ginet V, Giordano A, Giorgini F, Giovannetti E, Girardin SE, Gispert S, Giuliano S, Gladson CL, Glavic A, Gleave M, Godefroy N, Gogal RM Jr, Gokulan K, Goldman GH, Goletti D, Goligorsky MS, Gomes AV, Gomes LC, Gomez H, Gomez-Manzano C, Gómez-Sánchez R, Gonçalves DA, Goncu E, Gong Q, Gongora C, Gonzalez CB, Gonzalez-Alegre P, Gonzalez-Cabo P, González-Polo RA, Goping IS, Gorbea C, Gorbunov NV, Goring DR, Gorman AM, Gorski SM, Goruppi S, Goto-Yamada S, Gotor C, Gottlieb RA, Gozes I, Gozuacik D, Graba Y, Graef M, Granato GE, Grant GD, Grant S, Gravina GL, Green DR, Greenhough A, Greenwood MT, Grimaldi B, Gros F, Grose C, Groulx JF, Gruber F, Grumati P, Grune T, Guan JL, Guan KL, Guerra B, Guillen C, Gulshan K, Gunst J, Guo C, Guo L, Guo M, Guo W, Guo XG, Gust AA, Gustafsson ÅB, Gutierrez E, Gutierrez MG, Gwak HS, Haas A, Haber JE, Hadano S, Hagedorn M, Hahn DR, Halayko AJ, Hamacher-Brady A, Hamada K, Hamai A, Hamann A, Hamasaki M, Hamer I, Hamid Q, Hammond EM, Han F, Han W, Handa JT, Hanover JA, Hansen M, Harada M, Harhaji-Trajkovic L, Harper JW, Harrath AH, Harris AL, Harris J, Hasler U, Hasselblatt P, Hasui K, Hawley RG, Hawley TS, He C, He CY, He F, He G, He RR, He XH, He YW, He YY, Heath JK, Hébert MJ, Heinzen RA, Helgason GV, Hensel M, Henske EP, Her C, Herman PK, Hernández A, Hernandez C, Hernández-Tiedra S, Hetz C, Hiesinger PR, Higaki K, Hilfiker S, Hill BG, Hill JA, Hill WD, Hino K, Hofius D, Hofman P, Höglinger GU, Höhfeld J, Holz MK, Hong Y, Hood DA, Hoozemans JJ, Hoppe T, Hsu C, Hsu CY, Hsu LC, Hu D, Hu G, Hu HM, Hu H, Hu MC, Hu YC, Hu ZW, Hua F, Hua Y, Huang C, Huang HL, Huang KH, Huang KY, Huang S, Huang S, Huang WP, Huang YR, Huang Y, Huang Y, Huber TB, Huebbe P, Huh WK, Hulmi JJ, Hur GM, Hurley JH, Husak Z, Hussain SN, Hussain S, Hwang JJ, Hwang S, Hwang TI, Ichihara A, Imai Y, Imbriano C, Inomata M, Into T, Iovane V, Iovanna JL, Iozzo RV, Ip NY, Irazoqui JE, Iribarren P, Isaka Y, Isakovic AJ, Ischiropoulos H, Isenberg JS, Ishaq M, Ishida H, Ishii I, Ishmael JE, Isidoro C, Isobe KI, Isono E, Issazadeh-Navikas S, Itahana K, Itakura E, Ivanov AI, Iyer AK, Izquierdo JM, Izumi Y, Izzo V, Jäättelä M, Jaber N, Jackson DJ, Jackson WT, Jacob TG, Jacques TS, Jagannath C, Jain A, Jana NR, Jang BK, Jani A, Janji B, Jannig PR, Jansson PJ, Jean S, Jendrach M, Jeon JH, Jessen N, Jeung EB, Jia K, Jia L, Jiang H, Jiang H, Jiang L, Jiang T, Jiang X, Jiang X, Jiang X, Jiang Y, Jiang Y, Jiménez A, Jin C, Jin H, Jin L, Jin M, Jin S, Jinwal UK, Jo EK, Johansen T, Johnson DE, Johnson GV, Johnson JD, Jonasch E, Jones C, Joosten LA, Jordan J, Joseph AM, Joseph B, Joubert AM, Ju D, Ju J, Juan HF, Juenemann K, Juhász G, Jung HS, Jung JU, Jung YK, Jungbluth H, Justice MJ, Jutten B, Kaakoush NO, Kaarniranta K, Kaasik A, Kabuta T, Kaeffer B, Kågedal K, Kahana A, Kajimura S, Kakhlon O, Kalia M, Kalvakolanu DV, Kamada Y, Kambas K, Kaminskyy VO, Kampinga HH, Kandouz M, Kang C, Kang R, Kang TC, Kanki T, Kanneganti TD, Kanno H, Kanthasamy AG, Kantorow M, Kaparakis-Liaskos M, Kapuy O, Karantza V, Karim MR, Karmakar P, Kaser A, Kaushik S, Kawula T, Kaynar AM, Ke PY, Ke ZJ, Kehrl JH, Keller KE, Kemper JK, Kenworthy AK, Kepp O, Kern A, Kesari S, Kessel D, Ketteler R, Kettelhut ID, Khambu B, Khan MM, Khandelwal VK, Khare S, Kiang JG, Kiger AA, Kihara A, Kim AL, Kim CH, Kim DR, Kim DH, Kim EK, Kim HY, Kim HR, Kim JS, Kim JH, Kim JC, Kim JH, Kim KW, Kim MD, Kim MM, Kim PK, Kim SW, Kim SY, Kim YS, Kim Y, Kimchi A, Kimmelman AC, Kimura T, King JS, Kirkegaard K, Kirkin V, Kirshenbaum LA, Kishi S, Kitajima Y, Kitamoto K, Kitaoka Y, Kitazato K, Kley RA, Klimecki WT, Klinkenberg M, Klucken J, Knævelsrud H, Knecht E, Knuppertz L, Ko JL, Kobayashi S, Koch JC, Koechlin-Ramonatxo C, Koenig U, Koh YH, Köhler K, Kohlwein SD, Koike M, Komatsu M, Kominami E, Kong D, Kong HJ, Konstantakou EG, Kopp BT, Korcsmaros T, Korhonen L, Korolchuk VI, Koshkina NV, Kou Y, Koukourakis MI, Koumenis C, Kovács AL, Kovács T, Kovacs WJ, Koya D, Kraft C, Krainc D, Kramer H, Kravic-Stevovic T, Krek W, Kretz-Remy C, Krick R, Krishnamurthy M, Kriston-Vizi J, Kroemer G, Kruer MC, Kruger R, Ktistakis NT, Kuchitsu K, Kuhn C, Kumar AP, Kumar A, Kumar A, Kumar D, Kumar D, Kumar R, Kumar S, Kundu M, Kung HJ, Kuno A, Kuo SH, Kuret J, Kurz T, Kwok T, Kwon TK, Kwon YT, Kyrmizi I, La Spada AR, Lafont F, Lahm T, Lakkaraju A, Lam T, Lamark T, Lancel S, Landowski TH, Lane DJ, Lane JD, Lanzi C, Lapaquette P, Lapierre LR, Laporte J, Laukkarinen J, Laurie GW, Lavandero S, Lavie L, LaVoie MJ, Law BY, Law HK, Law KB, Layfield R, Lazo PA, Le Cam L, Le Roch KG, Le Stunff H, Leardkamolkarn V, Lecuit M, Lee BH, Lee CH, Lee EF, Lee GM, Lee HJ, Lee H, Lee JK, Lee J, Lee JH, Lee JH, Lee M, Lee MS, Lee PJ, Lee SW, Lee SJ, Lee SJ, Lee SY, Lee SH, Lee SS, Lee SJ, Lee S, Lee YR, Lee YJ, Lee YH, Leeuwenburgh C, Lefort S, Legouis R, Lei J, Lei QY, Leib DA, Leibowitz G, Lekli I, Lemaire SD, Lemasters JJ, Lemberg MK, Lemoine A, Leng S, Lenz G, Lenzi P, Lerman LO, Lettieri Barbato D, Leu JI, Leung HY, Levine B, Lewis PA, Lezoualc'h F, Li C, Li F, Li FJ, Li J, Li K, Li L, Li M, Li M, Li Q, Li R, Li S, Li W, Li W, Li X, Li Y, Lian J, Liang C, Liang Q, Liao Y, Liberal J, Liberski PP, Lie P, Lieberman AP, Lim HJ, Lim KL, Lim K, Lima RT, Lin CS, Lin CF, Lin F, Lin F, Lin FC, Lin K, Lin KH, Lin PH, Lin T, Lin WW, Lin YS, Lin Y, Linden R, Lindholm D, Lindqvist LM, Lingor P, Linkermann A, Liotta LA, Lipinski MM, Lira VA, Lisanti MP, Liton PB, Liu B, Liu C, Liu CF, Liu F, Liu HJ, Liu J, Liu JJ, Liu JL, Liu K, Liu L, Liu L, Liu Q, Liu RY, Liu S, Liu S, Liu W, Liu XD, Liu X, Liu XH, Liu X, Liu X, Liu X, Liu Y, Liu Y, Liu Z, Liu Z, Liuzzi JP, Lizard G, Ljujic M, Lodhi IJ, Logue SE, Lokeshwar BL, Long YC, Lonial S, Loos B, López-Otín C, López-Vicario C, Lorente M, Lorenzi PL, Lõrincz P, Los M, Lotze MT, Lovat PE, Lu B, Lu B, Lu J, Lu Q, Lu SM, Lu S, Lu Y, Luciano F, Luckhart S, Lucocq JM, Ludovico P, Lugea A, Lukacs NW, Lum JJ, Lund AH, Luo H, Luo J, Luo S, Luparello C, Lyons T, Ma J, Ma Y, Ma Y, Ma Z, Machado J, Machado-Santelli GM, Macian F, MacIntosh GC, MacKeigan JP, Macleod KF, MacMicking JD, MacMillan-Crow LA, Madeo F, Madesh M, Madrigal-Matute J, Maeda A, Maeda T, Maegawa G, Maellaro E, Maes H, Magariños M, Maiese K, Maiti TK, Maiuri L, Maiuri MC, Maki CG, Malli R, Malorni W, Maloyan A, Mami-Chouaib F, Man N, Mancias JD, Mandelkow EM, Mandell MA, Manfredi AA, Manié SN, Manzoni C, Mao K, Mao Z, Mao ZW, Marambaud P, Marconi AM, Marelja Z, Marfe G, Margeta M, Margittai E, Mari M, Mariani FV, Marin C, Marinelli S, Mariño G, Markovic I, Marquez R, Martelli AM, Martens S, Martin KR, Martin SJ, Martin S, Martin-Acebes MA, Martín-Sanz P, Martinand-Mari C, Martinet W, Martinez J, Martinez-Lopez N, Martinez-Outschoorn U, Martínez-Velázquez M, Martinez-Vicente M, Martins WK, Mashima H, Mastrianni JA, Matarese G, Matarrese P, Mateo R, Matoba S, Matsumoto N, Matsushita T, Matsuura A, Matsuzawa T, Mattson MP, Matus S, Maugeri N, Mauvezin C, Mayer A, Maysinger D, Mazzolini GD, McBrayer MK, McCall K, McCormick C, McInerney GM, McIver SC, McKenna S, McMahon JJ, McNeish IA, Mechta-Grigoriou F, Medema JP, Medina DL, Megyeri K, Mehrpour M, Mehta JL, Mei Y, Meier UC, Meijer AJ, Meléndez A, Melino G, Melino S, de Melo EJ, Mena MA, Meneghini MD, Menendez JA, Menezes R, Meng L, Meng LH, Meng S, Menghini R, Menko AS, Menna-Barreto RF, Menon MB, Meraz-Ríos MA, Merla G, Merlini L, Merlot AM, Meryk A, Meschini S, Meyer JN, Mi MT, Miao CY, Micale L, Michaeli S, Michiels C, Migliaccio AR, Mihailidou AS, Mijaljica D, Mikoshiba K, Milan E, Miller-Fleming L, Mills GB, Mills IG, Minakaki G, Minassian BA, Ming XF, Minibayeva F, Minina EA, Mintern JD, Minucci S, Miranda-Vizuete A, Mitchell CH, Miyamoto S, Miyazawa K, Mizushima N, Mnich K, Mograbi B, Mohseni S, Moita LF, Molinari M, Molinari M, Møller AB, Mollereau B, Mollinedo F, Mongillo M, Monick MM, Montagnaro S, Montell C, Moore DJ, Moore MN, Mora-Rodriguez R, Moreira PI, Morel E, Morelli MB, Moreno S, Morgan MJ, Moris A, Moriyasu Y, Morrison JL, Morrison LA, Morselli E, Moscat J, Moseley PL, Mostowy S, Motori E, Mottet D, Mottram JC, Moussa CE, Mpakou VE, Mukhtar H, Mulcahy Levy JM, Muller S, Muñoz-Moreno R, Muñoz-Pinedo C, Münz C, Murphy ME, Murray JT, Murthy A, Mysorekar IU, Nabi IR, Nabissi M, Nader GA, Nagahara Y, Nagai Y, Nagata K, Nagelkerke A, Nagy P, Naidu SR, Nair S, Nakano H, Nakatogawa H, Nanjundan M, Napolitano G, Naqvi NI, Nardacci R, Narendra DP, Narita M, Nascimbeni AC, Natarajan R, Navegantes LC, Nawrocki ST, Nazarko TY, Nazarko VY, Neill T, Neri LM, Netea MG, Netea-Maier RT, Neves BM, Ney PA, Nezis IP, Nguyen HT, Nguyen HP, Nicot AS, Nilsen H, Nilsson P, Nishimura M, Nishino I, Niso-Santano M, Niu H, Nixon RA, Njar VC, Noda T, Noegel AA, Nolte EM, Norberg E, Norga KK, Noureini SK, Notomi S, Notterpek L, Nowikovsky K, Nukina N, Nürnberger T, O'Donnell VB, O'Donovan T, O'Dwyer PJ, Oehme I, Oeste CL, Ogawa M, Ogretmen B, Ogura Y, Oh YJ, Ohmuraya M, Ohshima T, Ojha R, Okamoto K, Okazaki T, Oliver FJ, Ollinger K, Olsson S, Orban DP, Ordonez P, Orhon I, Orosz L, O'Rourke EJ, Orozco H, Ortega AL, Ortona E, Osellame LD, Oshima J, Oshima S, Osiewacz HD, Otomo T, Otsu K, Ou JJ, Outeiro TF, Ouyang DY, Ouyang H, Overholtzer M, Ozbun MA, Ozdinler PH, Ozpolat B, Pacelli C, Paganetti P, Page G, Pages G, Pagnini U, Pajak B, Pak SC, Pakos-Zebrucka K, Pakpour N, Palková Z, Palladino F, Pallauf K, Pallet N, Palmieri M, Paludan SR, Palumbo C, Palumbo S, Pampliega O, Pan H, Pan W, Panaretakis T, Pandey A, Pantazopoulou A, Papackova Z, Papademetrio DL, Papassideri I, Papini A, Parajuli N, Pardo J, Parekh VV, Parenti G, Park JI, Park J, Park OK, Parker R, Parlato R, Parys JB, Parzych KR, Pasquet JM, Pasquier B, Pasumarthi KB, Patschan D, Patterson C, Pattingre S, Pattison S, Pause A, Pavenstädt H, Pavone F, Pedrozo Z, Peña FJ, Peñalva MA, Pende M, Peng J, Penna F, Penninger JM, Pensalfini A, Pepe S, Pereira GJ, Pereira PC, Pérez-de la Cruz V, Pérez-Pérez ME, Pérez-Rodríguez D, Pérez-Sala D, Perier C, Perl A, Perlmutter DH, Perrotta I, Pervaiz S, Pesonen M, Pessin JE, Peters GJ, Petersen M, Petrache I, Petrof BJ, Petrovski G, Phang JM, Piacentini M, Pierdominici M, Pierre P, Pierrefite-Carle V, Pietrocola F, Pimentel-Muiños FX, Pinar M, Pineda B, Pinkas-Kramarski R, Pinti M, Pinton P, Piperdi B, Piret JM, Platanias LC, Platta HW, Plowey ED, Pöggeler S, Poirot M, Polčic P, Poletti A, Poon AH, Popelka H, Popova B, Poprawa I, Poulose SM, Poulton J, Powers SK, Powers T, Pozuelo-Rubio M, Prak K, Prange R, Prescott M, Priault M, Prince S, Proia RL, Proikas-Cezanne T, Prokisch H, Promponas VJ, Przyklenk K, Puertollano R, Pugazhenthi S, Puglielli L, Pujol A, Puyal J, Pyeon D, Qi X, Qian WB, Qin ZH, Qiu Y, Qu Z, Quadrilatero J, Quinn F, Raben N, Rabinowich H, Radogna F, Ragusa MJ, Rahmani M, Raina K, Ramanadham S, Ramesh R, Rami A, Randall-Demllo S, Randow F, Rao H, Rao VA, Rasmussen BB, Rasse TM, Ratovitski EA, Rautou PE, Ray SK, Razani B, Reed BH, Reggiori F, Rehm M, Reichert AS, Rein T, Reiner DJ, Reits E, Ren J, Ren X, Renna M, Reusch JE, 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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 12(1):1-222, 2016 Jan 2.

Haginoya K*, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T,  Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake M, Saitsu H, Matsumoto N, Kure S. FDG-PET study of patients with Leigh syndrome. J Neurol Sci 362: 309-313, 2016.

Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H. Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. Birth Defects Res A Clin Mol Teratol 106(4):304-307, 2016 Apr. doi: 10.1002/bdra.23488.

Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Hitoshi Osaka H, Matsumoto N. De novo DNM1 mutations in two cases of epileptic encephalopathy. Epilepsia 57(1):e18-e23, 2016 Jan. doi: 10.1111/epi.13257.

Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima N, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N*, Matsumoto N* (*: co-correspondence). Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing. Hum Genet 135(1):61-68, 2016 Jan. doi: 10.1007/s00439-015-1611-0.

Yamashita S, *Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. Epilepsia 57(4):e81-86, 2016 Apr. doi: 10.1111/epi.13338.

Kodera H#, Ohba C# (# denotes equal contribution), Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, *Saitsu H, *Matsumoto N (: co-correspondence). De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia 57(4):566-573, 2016 Apr. doi: 10.1111/epi.13344. Epub 2016 Feb 25.

Makrythanasis P#, Kato M# (# denotes equal contribution), Zaki MS4, Saitsu H, Nakamura K, Santoni FA Miyatake S, Nakashima M,  Issa MY, Guipponi M, Letourneau A, Logan C, Roberts R, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, *Antonarakis SE, *Murakami Y (*co-correspondence). Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia. Am J Hum Genet 98: 615-626, 2016. doi: 10.1016/j.ajhg.2016.02.007

Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N*.Ultratra-sensitve droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. Sci Rep 6:22985, 2016 Mar. doi: 10.1038/srep22985.

Wang Z#, Iida A#, Miyake N# (# denotes equal contribution), Nishiguchi KM, Fujita K, Alswaid A, Albalwi MA, Kim O-H, Cho T-J, Isidor B, Rustad C, Merckoll E, Westvik J, Stattin E-L, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S*. Axial spondylometaphyseal dysplasia is caused by C21orf2 Mutations. Plos One 11(3): e0150555, 2016. doi: 10.1371/journal.pone.0150555.

Nishri D#, Goldberg-Stern H# (#: equal contribution), Noyman I, Blumkin L, Kivity S, Saitsu H, Nakashima M, Matsumoto N, Leshinsky-Silver E, Lerman- Sagie T, Lev D*. RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. Eur J Paediatr Neurol 20(3):412-417, 2016 May. doi: 10.1016/j.ejpn.2016.02.012.

2015

Miyake N#, Tsukaguchi Y#, (# denotes equal contribution) Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Imamura S, Yamashita M, Fijita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Imamoto N, Ryo A, Ogata K, Iijima K, *Matsumoto N (*: corresponding). Biallelic mutations in NUP107 encoding a nuclear pore complex subunit cause early childhood onset steroid-Resistance nephrotic syndrome. Am J Hum Genet 97(4):555-566, 2015 Oct. doi: 10.1016/j.ajhg.2015.08.013.

Nakashima M, Saitsu H, Tohyama J, Kato M, Shiina M, Takei N, Kitaura H,  Shirozu H, Masuda H, Watanabe K,  Ohba C, Tsurusaki Y, Miyake N, Takebayashi H, Ogata K, Kameyama S, Kakita A, *Matsumoto N. Somatic Mutations in the MTOR Gene Cause Focal Cortical Dysplasia Type IIb. Ann Neurol 78(3):375-386, 2015 Sep. doi: 10.1002/ana.24444.

Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R,  Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awadu M,  Miyake N, Kosho T*. Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS). Am J Med Genet Part A 167(3):592-601, 2015 Mar. doi: 10.1002/ajmg.a.36942.

Hara M, Ohba C, Yamashita Y, Saitsu H, Matsumoto N, *Matsuishi T. De novo SHANK3 mutation causes a female patient with Rett syndrome like phenotype. Am J Med Genet Part A 167(7):1593-1596, 2015 Jul. doi: 10.1002/ajmg.a.36775.

*Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H. A Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in the SGCE gene. Pediatr Int 57(2):324-326, 2015 Apr. doi: 10.1111/ped.12613.

Okubo M#, Fujita A# (# denotes equal contribution), Saito Y, Komaki H, Ishiyama A, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Matsumoto N, Sasaki M. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.  Am J Med Genet Part A 167(5):1100-1106, 2015 May. doi: 10.1002/ajmg.a.36881

Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H*, Matsumoto N* (*: co-corresponding). Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet 60(2):97-101, 2015 Feb. doi: 10.1038/jhg.2014.103.

*Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S,  Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H. A Japanese girl with a severe form of vanishing white matter disease resembling Cree leukoencephalopathy. Brain Dev 37(6):638-642, 2015 Jun. doi: 10.1016/j.braindev.2014.10.002.

Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, *Matsumoto N. Detecting copy number variations in whole exome sequencing data using the eXome Hidden Markov Model: an “exome-first” approach. J Hum Genet 60(4):175-182, 2015 Apr. doi: 10.1038/jhg.2014.124.

*Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet. 60(4):167-173, 2015 Apr. doi: 10.1038/jhg.2015.5.

Ohba C, Takahashi N, Kato M, Osaka H, Takashi Shiihara T, Tohyama J, Nabatame S, Azuma J, MD, Fujii Y, MD, Hara M, Tsurusawa R, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, *Saitsu H, *Matsumoto N (*: co-correspondence). GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, hyperkinetic and stereotyped movement disorders. Epilepsia 56(6):841-848, 2015 Jun. doi: 10.1111/epi.12987.

*Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. J Neurol. 262(5):1278-1284, 2015 May. doi: 10.1007/s00415-015-7705-8.

Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F*. A Japanese case of cerebellar ataxia, spastic paraparesis, and deep sensory impairment associated with a novel homozygous TTC19 mutation. J Hum Genet. 60(4):187-191, 2015 Apr. doi: 10.1038/jhg.2015.7.

Fukai R, Hiraki Y, Tsurusaki Y, Nakashima M, Saitsu H, *Miyake N, *Matsumoto N (*: co-corrresponding). A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. J Hum Genet 60(5):277-279, 2015 May. doi: 10.1038/jhg.2015.13.

Matsumoto N. A message for 2015. J Hum Genet 60(3): 109-111, 2015 Mar. doi: 10.1038/jhg.2015.9.

Tatematsu T, Kimura M, Nakashima M, Machida J, Yamaguchi S, Shibata A, Goto H, Nakayama A, Higashi Y, Miyachi H, Shimozato K, Matsumoto N, *Tokita Y. An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family. Plos One 10(6):e0128227, 2015 Jun 1. doi: 10.1371/journal.pone.0128227.

Endo Y, *Noguchi S, Hara Y, Hayashi YK, Motomura K, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I. Dominant mutations in ORAI1 cause tubular-aggregate- myopathy with hypocalcemia by constitutive activation of store-operated Ca2+ channel. Hum Mol Genet 24(3): 637-648, 2015 Feb 1. doi: 10.1093/hmg/ddu477.

Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, *Ishikawa K. A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: A broadened spectrum of SCA34. JAMA Neurol. 72(7):797-805, 2015 Jul 1. doi: 10.1001/jamaneurol.2015.0610.

Liu X, Kawashima M, Miyagawa T, Otowa T, Latt KZ, Thiri M, Nishida H, Sugiyama T, Tsurusaki Y, Matsumoto N, Mabuchi A, Tokunaga K*, Sasaki T* (*: co-correspondence). Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals. Hum Genome Var 2: 15024, 2015. doi:10.1038/hgv.2015.24

Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S#*, Jin DK#*. (*: co-correspondence) (# denotes equal contribution). Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. Hum Mut 36(2):191-195, 2015 Feb. doi: 10.1002/humu.22731.

Yahikozawa H, #Yoshida K, Sato S, Hanyu N, Doi H, 4, Miyatake S, Matsumoto N. Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7) (#: correspondence). Hum Genome Var 2:15012, 2015. doi:10.1038/hgv.2015.12.

Imagawa E#, Fukai R#, Behnam M#, Goyal M# (#: equally contributed), Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, *Miyake N, *Matsumoto N (*: co-correspondence). Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. Hum Genome Var 2, 15034, 2015. doi:10.1038/hgv.2015.34

*Takahashi S, Yamamoto S, Okayama A, Araki A, Saitsu H, Matsumoto N, Azuma H. Electroclinical features of epileptic encephalopathy caused by SCN8A mutation. Pediat Int 57(4):758-762, 2015. doi: 10.1111/ped.12622.

Kubo N, Toh H, Shirane K, Shirakawa T, Kobayashi H, Sato T, Sone H, Sato Y, Tomizawa S, Tsurusaki Y, Shibata H, Saitsu H, Suzuki Y, Matsumoto N, Suyama M, Kono T, Ohbo K, Sasak H*. DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal testis. BMC Genomics 16(1):624, 2015 Aug. doi: 10.1186/s12864-015-1833-5

Afifi H, Fukai R, Miyake N, Gamal E, Din A, Eid M, Eid O, Thomas M, El-Badry T, Tosson A, Abdel-Salam G*, Matsumoto N. De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. Am J Med Genet Part A 167(10): 2418-2424, 2015 Sep. doi: 10.1002/ajmg.a.37185.

Ogura Y, Miyake N, Kou I, Iida A, Nakajima M, Takeda K, Fujibayashi S, Shiina M, Okada E, Toyama Y, Iwanami A, Ishii K, Ogata K, Asahara H, Matsumoto N, Nakamura M, Matsumoto M, Ikegawa S*. Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. PLoS One. 10(11):e0142126, 2015. Nov. doi: 10.1371/journal.pone.0142126.

*Saitsu H#, *Akita T# (# denotes co-first authors, *: co-correspondence), Tohyama J, Goldberg-Stern H, Kobayashi Y, Cohen R, Kato M, Ohba C, Miyatake S, Tsurusaki Y, Nakashima M, Miyake N, Fukuda A, Matsumoto N. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. Sci Rep. 5:15199, 2015 Oct. doi: 10.1038/srep15199.


2014

Miyatake S, *Matsumoto N (*: correspondence). Clinical exome sequencing in neurology practice. (News & View) Nat Rev Neurol 10(12):676-678, 2014. doi: 10.1038/nrneurol.2014.213.

Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and *Matsumoto N. De novo SOX11 mutations cause Coffin-Siris syndrome. Nat Commun 5:4011, 2014. doi: 10.1038/ncomms5011.

Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, *Matsumoto N. Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. Am J Med Genet Part A 164(1):231-236, 2014. doi: 10.1002/ajmg.a.36228.

*Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich JA. Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. Brain Dev 36(3):259-263, 2014. doi: 10.1016/j.braindev.2013.03.006

*Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes. Clin Genet 85: 396-398, 2014

*Miyake N, Kosho T, Matsumoto N. Ehlers–Danlos syndrome associated with glycosaminoglycan abnormalities. J. Halper (ed.), Progress in heritable soft connective Tissue diseases, Advances in Experimental Medicine and Biology 802. Pp145-159, 2014 DOI 10.1007/978-94-007-7893-1_10. Springer Netherland, Houten, Netherland

Ichinose Y, Miwa M, Onohara A, Obi K, Shindo K, Saitsu H, Matsumoto N, *Takiyama Y. Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN). Neurol Clin Pract 4(2):175-177, 2014

Nakamura K, Jinnou H, Yokochi K, Okanishi T, Enoki H, Ohki S, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake M, Matsumoto N, Saitsu H*. A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. Brain Dev36(3): 272-273, 2014. doi: 10.1016/j.braindev.2013.03.007

Kutuk MS, Balta B, Kodera H, *Matsumoto N, *Saitsu H, Doganay S, Canpolat M, Dolanbay M, Unal E, Dundar M. Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage? Childs Nerv Syst 30(3):419-424, 2014. doi: 10.1007/s00381-013-2338-7.

Imagawa E,  Osaka H, Yamashita A, Shiina M, Takahashi EHideo Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, *Matsumoto N, *Miyake N.A hemizygous GYG2 mutation causes Leigh syndrome. Hum Genet 133 (2):225-234, 2014

Fukai R, Hiraki Y, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, *Matsumoto N, *Miyake N (*: co-corresponding). A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay. Am J Med Genet Part A 164(4):1021-1028, 2014. doi: 10.1002/ajmg.a.36377.

Tsurusaki Y, Yonezawa R, Furuya M, Nishimura G, Pooh RK, Nakashima M, Saitsu H, Miyake N, Saito S, *Matsumoto N. Whole exome sequencing revealed causative biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. Clin Genet 85(6):592-594, 2014. doi: 10.1111/cge.12215.

Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, *Matsumoto N, *Saitsu (*: co-correspondence).  PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. Epilepsia 55(2):e13-7, 2014 Feb. doi: 10.1111/epi.12508.

Fujita A, Ochi N, Fujimaki H, Nakashima M, Tsurusaki Y, Saitsu H, *Matsumoto N, *Miyake N (*: co-correspondence). A novel WTX mutation in a female patient who has osteopathia striata with cranial sclerosis and hepatoblastoma. Am J Med Genet Part A 164A(4):998-1002, 2014. doi: 10.1002/ajmg.a.36369

Ohba C, Okamoto N, Murakami Y, Kawato K, Suzuki Y, Ikeda T, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, *Matsumoto N, *Saitsu H (*: co-correspondence). PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. Neurogenet 59(5):292-295, 2014. doi: 10.1038/jhg.2014.18.

*Nakayama T, Saitsu H, Endo W, Kikuchi A, Uematsu M, Haginoya K, Hino-Fukuyo N, Kobayashi T, Iwasaki M, Tominaga T, Kure S, Matsumoto N. RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy. Brain Dev 36(6):532-536, 2014 Jun. doi: 10.1016/j.braindev.2013.07.009.

Suzuki T, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Takeda S, *Matsumoto N. Precise detection of chromosomal translocation or inversion breakpoints by whole genome sequencing. J Hum Genet 59(12):649-654, 2014 Dec. doi: 10.1038/jhg.2014.88.

Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, *Matsumoto N. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet 85(6):548-554, 2014 Jun. doi: 10.1111/cge.12225.

Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. Plos One 9(9):e108721, 2014. doi: 10.1371/journal.pone.0108721.

*Okamoto N, Yamagata T, Yada Y, Ichihashi K, Matsumoto N, Momoi MY, Mizuguchi T. Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy. Brain Dev;36(6):523-527, 2014 Jun. doi: 10.1016/j.braindev.2013.07.002.

*Kato M#, *Saitsu H#, *Murakami Y (*: co-first authors, #: co-corespondence), Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. Neurology 82(18):1587-1596, 2014. doi: 10.1212/WNL.0000000000000389.

Leventer RJ, Jansen FE, Mandelstam SA, Ho A, Mohamed I, Sarnat HB, Kato M, Fukasawa T, Saitsu H, Matsumoto N, Itoh M, Kalnins RM, Chow CW, Harvey AS, Jackson GD, Crino PB, Berkovic SF, Scheffer IE. Is Focal Cortical Dysplasia sporadic?  Family evidence for genetic susceptibility. Epilepsia; 55(3):e22-26, 2014. doi: 10.1111/epi.12533.

Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima N, Tsurusaki Y, Miyake N, Ogata K, *Matsumoto N, *Saitsu H (*: co-correspondence). Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies, Neurology 82(24):2230-2237, 2014. doi: 10.1212/WNL.0000000000000535.

Ohba C, MD, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, MD, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki T, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence). Early Onset Epileptic Encephalopathy Caused by de novo SCN8A Mutations. Epilepsia ;55(7):994-1000, 2014. doi: 10.1111/epi.12668.

Imagawa E, Kayserili H, Nakashima M, Tsurusaki Y, Saitsu H, Nishimura G, Ikegawa S, *Matsumoto N*, *Miyake N (*: co-correspondence). Severe manifestations of Hand-Foot-Genital syndrome associated with a novel HOXA13 mutation. Am J Med Genet Part A 164A(9):2398-2402, 2014. doi: 10.1002/ajmg.a.36648.

*Ohba C, *Nabatame S, (* denotes equal contribution) Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F,  Ozono K, Saitsu H#, Matsumoto N# (#: co-corresponding). De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. J Hum Genet 59(5):292-295, 2014. doi: 10.1038/jhg.2014.18.

*Matsumoto N. A message from the new Editor-in-Chief. J Hum Genet. 2014 59(1):1. doi: 10.1038/jhg.2013.127.

#Miyatake S, #Koshimizu E (# denotes equal contribution), Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, *Matsumoto N. Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. Neuromuscul Disord 24(7):642-647, 2014. doi: 10.1016/j.nmd.2014.04.002.

Ohashi T, Akasaka N, Kobayashi Y, Magara S, Kawashima H, Matsumoto N, Saitsu H, *Tohyama J.  Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies arising from a novel SCN1A mutation. Epileptic Disord 16(2):208-212, 2014 Jun. doi: 10.1684/epd.2014.0649.

Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N*. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Neurogenet 15(3):193-200, 2014. doi: 10.1007/s10048-014-0408-y.

Ozawa T, *Koide R, Nakata Y, Saitsu H, Matsumoto N, Takahashi K, Nakano I, Orimo S. A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). Am J Med Genet Part A 164(9):2388-2390, 2014. doi: 10.1002/ajmg.a.36635.

Yasuda Y, *Hashimoto R (* denotes a corresponding author), Fukai R, Okamoto N, Hiraki Y, Yamamori H, Fujimoto M, Ohi K, Taniike M, Mohri I, Nakashima M, Tsurusaki T, Saitsu H, Matsumoto N, Miyake N, Takeda M. The NPHP1 duplication in autism spectrum disorder with normal intellectual ability: a case series. Ann Gen Psychiatry. 13:22, 2014. doi: 10.1186/s12991-014-0022-2

*Miyake N (*: corresponding author), Tsurusaki Y, Matsumoto N. Numerous BAF complex genes are mutated in Coffin-Siris syndrome. Am J Med Genet Part C 166(3):257-261, 2014. doi: 10.1002/ajmg.c.31406.

*Nakashima M (*: corresponding author), Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss. J Hum Genet 59(8):471-474, 2014. doi: 10.1038/jhg.2014.51.

Ben-Omran T, Lakhani S, Almureikhi M, Ali R, Takahashi A, Miyake N, Matsumoto N, Ikegawa S, Superti-Furga A, *Unger S. Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder. Am J Med Genet Part A 164(9):2147-2152, 2014. doi: 10.1002/ajmg.a.36632.

*Yoshida K (*: correspondence), Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing (correspondence). J Hum Genet 59(10):589-590, 2014. doi: 10.1038/jhg.2014.75.

Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitsu H, Arai H, *Matsumoto N. The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome. J Hum Genet  59(12):691-693, 2014 Dec. doi: 10.1038/jhg.2014.95.

*Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, *Matsumoto N. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. J Hum Genet 59(12):687-690, 2014 Dec.j. doi: 10.1038/jhg.2014.91.

Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, *Yoshida K. Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. Sci Rep 4:7132, 2014 Nov 24. doi: 10.1038/srep07132.



2013

Yamashita S, Miyake N, Matsumoto N, Osaka H, Iai M, Aida N, Tanaka Y. Neuropathology of Leukoencephalopathy with Brainstem and Spinal Cord Involvement and High Lactate caused by a homozygous mutation of DARS2. Brain Dev 35(4):312-316, 2013. doi: 10.1016/j.braindev.2012.05.007.

Tsurusaki Y, *Kosho T (# denotes equal contribution), Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H,1 Miyake N, *Matsumoto N (*: co-correspondence). Exome sequencing identifies an OFD1 mutation in a family of X-linked lethal congenital malformation syndrome: delineation of male Oral-facial-digital syndrome type 1. Clin Genet 83 (2): 135-144, 2013. doi: 10.1038/jhg.2012.117.

Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori F, Yamazaki A, Subo Y, Nishiyama K, Miyatake S,  Tsurusaki Y, Doi H, Miyake N, Matsumoto N, *Saitsu H. Phenotype spectrum of COL4A1 mutations:  porencephaly to schizencephaly. Ann Neurol 73(1): 48-57, 2013. doi: 10.1002/ana.23736.

Miyatake S, Murakami A, Okamoto N, Miyake N, Saitsu H, *Matsumoto N. A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. Am J Med Genet Part A 161A(5): 1073-1077, 2013. doi: 10.1002/ajmg.a.35661.

*Nonoda Y, Saito Y, Nagai S, Sasaki M, Iwasaki T, Matsumoto N, Ishii M, Saitsu H. Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. Brain Dev 35(3): 280-283, 2013. doi: 10.1016/j.braindev.2012.05.002.

Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, *Miyake N. The diagnostic utility of exome sequencing in Joubert syndrome related disorders. J Hum Genet 58(2): 113-115, 2013. doi: 10.1038/jhg.2012.117.

Higashiyama Y, *Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N. A novel homozygous SCARB2 mutation causes late-onset progressive myoclonus epilepsy without renal failure. Mov disord 28(4): 552-553, 2013. doi: 10.1002/mds.25296.

*Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, *Matsumoto N (*: co-corresponding). KDM6A point mutations cause Kabuki syndrome. Hum Mut 34(1): 108-110, 2013. doi: 10.1002/humu.22229.

Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like. Am J Med Genet Part A 161A: 1543-1546, 2013.

Kimura-Ohba S, Kagitani-Shimono K, Hashimoto N, Nabatame S, Okinaga T, Murakami A, Miyake N, Matsumoto N, Osaka H, Hojo K, Tomita R, Taniike M, *Ozono K. A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia. Am J Med Genet Part A 161A(1): 203-207, 2013. doi: 10.1002/ajmg.a.35686.

*Miyake N#, Yano S# (# denotes equal contribution), Sakai C, Hatakeyama H, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Saitsu H, Ogata K, Goto Y, *Matsumoto N. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mut 34(3): 446-452, 2013. doi: 10.1002/humu.22257.

*Saitsu H#, Nishimura T#, Muramatsu K# (# denotes equal contribution), Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, *Mizushima, *Matsumoto N (*: co-corresponding). De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 45(4): 445-449, 2013. doi: 10.1038/ng.2562.

Kurotaki D, Osato N, Nishiyama A, Yamamoto M, Sato H, Nakabayashi J, Ban T, Miyake N, Matsumoto N, Nakazawa M, Ozato K, *Tamura T. Essential role of the IRF8-KLF4 transcription factor cascade in the monocyte differentiation program. Blood 121 (10): 1839-1849, 2013. doi: 10.1182/blood-2012-06-437863.

Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Mitsuko Nakashima1, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, *Matsumoto N. Pathogenic mutations in two families with congenital cataract identified by whole-exome sequencing. Mol Vis 19: 384-389, 2013

Vergano SS, Santen G, Wieczorek D, Wollnik B, Matsumoto N, Deardorff MA: Coffin-Siris Syndrome (April 2013) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2013. Available at http://www.genetests.org. (http://www.ncbi.nlm.nih.gov/books/NBK131811/)

Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N. A case of Toriello–Carey syndrome with severe congenital tracheal stenosis. Am J Med Genet Part A 161(9):2291-2293, 2013. doi: 10.1002/ajmg.a.35861.

Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Stražišar BG, Hirabayashi S, Chitayat D, Reid DM, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, *Matsumoto N, *Saitsu H (* denotes co-corresponding). Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 81(11):992-998, 2013

Koshimizu E#, Miyatake S# (# denotes equal contribution), Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder. Plos One 8(9): e74167. doi: 10.1371/journal.pone.0074167

Fukai R, Ochi N, Murakamia A, Nakashima M, Tsurusakia Y, Saitsu H, *Matsumoto N, *Miyake N. Co-occurrence of 22q11 deletion syndrome and HDR Syndrome. Am J Med Genet Part A 161(10):2576-2581, 2013. doi: 10.1002/ajmg.a.36083.

*Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, *Matsumoto N (*: co-corresponding). Clinical consequences of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet Part A 161(6):1221-1237, 2013.

Iida A, Nobuhiko Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N,* Ikegawa S. Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. J Hum Genet 58(6):391-394, 2013. doi: 10.1038/jhg.2013.25.

Nakajima M,# Mizumoto S,# Miyake N,# (# denotes equal contribution) Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis R, Chitayat D, Howard A, Ferraz-Leal G, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Superti-Furga A, Ohashi H, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S*. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet 92(6):927-934, 2013. doi:10.1038/ng.2562

Nishiguchi KM, Tearle RG, Liu Y, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma T, Beckmann JS, Ikegawa I, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc Natl Acad Sci USA 110(40): 16139-16144, 2013.

Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H. Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy. Epilepsia 54(7):1262-1269, 2013. doi: 10.1111/epi.12203

Ravenscroft G#, Miyatake S# (# denotes the first authors with equal contribution), Lehtokari V-L, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH,  Allcock RJN, Nishino I, Wallgren-Pettersson C, *Matsumoto N§, *Laing NG§ (§ denotes equal contribution as the last author). Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 93(1):6-18, 2013. doi: 10.1016/j.ajhg.2013.05.004.

*Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Yoko Hiraki, Kitanaka S, Matsubara Y, Makita T, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, *Matsumoto N, Niikawa N. MLL2 and KDM6A mutations and their clinical consequences in Kabuki syndrome. Am J Med Genet Part A 161(9):2234-2243, 2013. doi: 10.1002/ajmg.a.36072.

Sun S-L, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, So T, Ryo Funayama R, Kondo M, Saitsu H, Matsumoto N, Nakayama K, Ishii N*. Y-Chromosome-linked B- and NK-cell deficiency in mice. J Immunol 190 (12): 6209-6220, 2013. doi: 10.4049/jimmunol.1300303.

*Doi H, Ohba C, Tsurusaki Y, Miyake N, Saitsu H, Miyatake S, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N. Diagnostic utility of exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia: identification of a novel homozygous SPG7 mutation. Intern Med 52(14): 1629-1633, 2013

Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, *Matsumoto N,*Miyake N. A Unique Case of de novo 5q33.3q34 Triplication with Uniparental Isodisomy of 5q34qter. Am J Med Genet Part A 161(8):1904-1909, 2013. doi: 10.1002/ajmg.a.36026.

#Nakamura K, #Kodera H, #Akita T (# denotes equal contribution), Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama T, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima N, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, *Matsumoto N, *Saitsu H (* denotes co-correspondence) De novo mutations in GNAO1 encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet; 93(3):496-505, 2013. doi: 10.1016/j.ajhg.2013.07.014.

Kodera H#, Nakamura K# (# denotes equal contribution), Osaka H, Maegaki Y,Haginoya K, Mizumoto S, Kato M, Okamoto N,  Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Mitsuko Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, *Matsumoto N, *Saitsu H (*: co-corresponding). De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mut 34(12): 1708-1714, 2013. doi: 10.1002/humu.22446.

Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence). Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood. Neurogenet 14 (3-4): 225-232, 2013. doi: 10.1007/s10048-013-0375-8.

Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar M, Hashem A, Manton N, Muntoni F,  North KN, Sandaradura S , Nishino I, Hayashi YK, Sewry CA, Thompson EM, Brownstein CA, Yu TW, Allcock RJN, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH. Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am J Hum Genet 93(6):1108-1117, 2013. doi: 10.1016/j.ajhg.2013.10.020.

Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusakia Y, Saitsu H, Kawashima H, *Matsumoto N, *Miyake N (*: co-correspondence). A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia syndrome. J Hum Genet 58(12):822-824, 2013. doi: 10.1038/jhg.2013.104.

*Kato M, Yamagata T,Kubota M, Arai H,Yamashita S,Nakagawa T,Fujii T,Sugai K,Imai K, Uster T, Chitayat D, Weise S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kadera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, *Saitsu H. Clinical spectrum of early-onset epileptic encephalopathies caused by KCNQ2 mutations. Epilepsia 54(7): 1282-1287, 2013

2012

Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, *Miyake N, *Matsumoto N (*: co-corresponding). Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 44(4):376-378, 2012

*Saitsu H, Kato M, Matsumoto N. Haploinsufficiency of STXBP1 and Ohtahara syndrome. Jasper’s basic mechanism of the epilepsies, 4th edition, edited by Noebels J, Avoli M, Rogawski M, Olsen RW, and Delgado-Escueta AV. Oxford University Press Page 824-834, 2012.

Yoneda Y, Haginoya K, Arai H, Tsurusaki Y, Doi H, Miyake N, Osaka H, Kato M, Matsumoto N, *Saitsu H. De novo and inherited mutations in the gene encoding a type IV collagen α2 chain (COL4A2) cause porencephaly. Am J Hum Genet 90 (1):86-90, 2012

Sakai H, Suzuki S, Mizuguchi T, Imoto K, Doi H, Kikuchi M, Tsurusaki T, Saitsu H, Miyake N, Masuda M, *Matsumoto N. Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing. Hum Genet 131: 591-599, 2012

Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki T, Doi H, Miyake N, Ryoo N-K, Kim JH, Yu KS,*Matsumoto N. A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. J Hum Genet 57(3): 197-201, 2012

Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, *Matsumoto N. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like syndrome. J Hum Genet 50(3): 207-211, 2012

*Saitsu H, Osaka H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Matsumoto N. A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. Brain Dev 34(5): 364-367, 2012

Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, *Matsumoto N. Homozygous c.14576G>A Variant of RNF213  Predicts Early-Onset and Severe Form of Moyamoya Disease. Neurology 78: 803-810, 2012

*Hamdan FF#, Saitsu H# (# denotes equal contribution), Masuko K, Gauthier J, Dobrzeniecka S, Spiegelman D, Lacaille JC, Décarie JC, Matsumoto N, Rouleau GA, Michaud JL. Mutations in SPTAN1 in intellectual disability and pontocerebellar atrophy. Eur J Hum Genet 20 (7): 796-800, 2012.

*Saitsu H#, Kato M# (# denotes equal contribution), Shimono M, Senju A, Tanabe S, Kimura T, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. Clin Genet 81(4): 399-402, 2012

Motobayashi M, Nishimura-Tadaki A, Inaba Y, *Kosho T, Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K. Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature. Am J Med Genet Part A 158 (4): 861-868, 2012

*Osaka H, Takagi A , Tsuyusaki Y, Wada T, Iai M, Yamashita S, Shimbo H, Saitsu H, Salomons GS, Jakobs C, Aida N, Shinka T, Kuhara T, Matsumoto N. Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. Mol Genet Metab 106(1): 43-47, 2012

*Writzl K, Primec ZR, Stražišar BG, Osredkar D, Pečarič-Meglič N, Kranjc BS, Nishiyama K, Matsumoto N, Saitsu H. Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. Epilepsia 53(6): e106-110, 2012

*Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Whole exome sequenwcing identifies KCNQ2 mutations in Ohtahara syndrome. Ann Neurol 72(2): 298-300, 2012

*Terao Y, Saitsu H, Segawa M, Kondo Y, Sakamoto K, Matsumoto N, Tsuji S, Nomura Y. Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III. J Neurol Sci 320(1-2): 102-105, 2012

*Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. CASK aberrations in males with Ohtahara syndrome and cerebellar hypoplasia. Epilepsia 53(8): 1441-1449, 2012

Miyake N#, Elcioglu NH# (# denotes equal contribution), Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho T-J, Kim O-H, Nagai T, Ohashi H, Nishimura G, Matsumoto N,  Ikegawa S. PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet49(8): 533-538, 2012

Miyatake S, Miyake N, Doi H, Ogata K, Kawai M, *Matsumoto N. A novel SACS mutation in a Japanese family with atypical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Intern Med 51: 2221-2226, 2012


2011

Okada I#, Hamanoue H#, (# denotes equal contribution) Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Kiyomi Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K-i, Tsurusaki Y, Doi H, Miyake N, Furukawa T, *Matsumoto N, *Saitsu H. SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet 88(1): 30-41, 2011

*Tohyama J, Kato M, N, Kawasaki S, Kawara H, Matsui T, Akasaka N, Ohashi T, Kobayashi Y, Matsumoto N. Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient. Am J Med Genet 155(1): 130-131, 2011

Furuichi T, Dai J, Cho T-J, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim O-H, Nishimura G, *Ikegawa S. CANT1 is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet 48(1): 32-37, 2011

*Saitsu H, Hoshino H, Kato M, Nishiyama N, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N. Paternal mosaicism of a STXBP1 mutation in Ohtahara syndrome. Clin Genet 80 (5):484-488, 2011.

*Yano S, Bagheri A, Watanabe Y, Moseley K, Nishimura A, Matsumoto N, Baskin B, Ray PN. Familial Simpson-Golabi-Behmel syndrome: Studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. Clin Genet 80 (5): 466-471, 2011.

Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H, Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, *Matsumoto N. Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure. J Hum Genet 56(2) 156?160, 2011

Hiraki Y, Nishimura A, Hayashidani M, Terada Y, Nishimura G, Okamoto N, Nishina S, Tsurusaki Y, Doi H, Saitsu H, Miyake N, *Matsumoto N. A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty. Am J Med Genet 152(2): 409-414, 2011

*Tonoki H, Harada N, Shimokawa O, Yosozumi A, Monzaki K, Satoh K, Mika Kosaki R, Sato A, Matsumoto N, Iizuka S. Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses on three patients with chromosomal defects at 6p25. Am J Med Genet Part A 155 (12): 2925-2932, 2011

Tadaki H, Saitsu H, Nishimura-Tadaki A, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Miyake N, Doi H, Tsurusaki Y, Sakai H, Yokota S, *Matsumoto N. De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis. J Hum Genet 56 (5): 343-347, 2011.

*Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N. A novel homozygous mutation of DARS2 may cause a severe LBSL variant. Clin Genet 80(3): 293-296, 2011.

Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, *Matsumoto N. Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. Int J Immunogenet 38 (4): 287-293, 2011

Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, *Matsumoto N, *Miyake N. Rapid detection of a mutation causing X-linked leukodystrophy by exome sequencing. J Med Genet 48 (9): 606-609, 2011.

*Narumi Y, Shiihara T, Yoshihasi H, Sakazume S, van der Knaape MS, Nishimura-Tadaki A,  Matsumoto N, Fukushima Y. Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) in an infant with Down syndrome. Clin Dysmorphol 20 (3): 166-167, 2011

Dai J, Kim O-K, Cho T-J, Miyake N, Song H-R, Karasugi T, Sakazume S, Ikema M, Matsui Y, Nagai T, Matsumoto N, Ohashi H, Kamatani N, Nishimura G, Furuichi T, Takahashi A, *Ikegawa S. A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia. J Hum Genet 56(5): 398-400, 2011.

*Saitsu H, Matsumoto N. Genetic commentary: De novo mutations in epilepsy. Dev Med Child Neurol 53 (9):806-807, 2011.

Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, *Kosho T. Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients. Am J Med Genet 155A(8): 1949-1958, 2011

*Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama N, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N. Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). Am J Med Genet 158A (1):199-205, 2011

*Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, *Matsumoto N. Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 90 (1):86-90, 2012.

Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing of two patients in a family with atypical X-linked leukodystrophy. Clin Genet 80 (2): 161-166, 2011

Hannibal MC#, Buckingham KJ#, Ng SB#, (# denotes equal contribution) Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura KI, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, *Bamshad MJ. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet 155A (7): 1511-1516, 2011.

*Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Sugahara K, Matsumoto N. A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “Dermatan sulfate-deficient adducted thumb?clubfoot syndrome”. Which name is appropriate, “Adducted thumb?clubfoot syndrome” or “Ehlers?Danlos syndrome”? Hum Mut 32(12):1507-1509, 2011

Doi H, Yoshida K, T Yasuda, Fukuda M, Fukuda Y, Morita H, Ikeda S-i, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, *Matsumoto N. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation. Am J Hum Genet 89(2):320-327, 2011.

*Abdel-Salam GMH, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, *Matsumoto N. A homozygous Mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet Part A 155 (11): 2885-2896, 2011.


2010

Ng S, Bigham A, Buckingham K, Hannibal M, McMillin M, Gildersleeve H, Beck A, Tabor H, Cooper G, Mefford H, Lee C, Turner E, Smith J, Rieder M, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson D, *Bamshad M, *Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42(9): 790-793, 2010.

Shiihara T, Maruyama K-i, Yamada Y, Nishimura A, Matsumoto N, Kato M, Sakazume S. A case of Baraitser-Winter syndrome with unusual brain MRI findings of pachygyria, subcortical band heterotopia and periventricular heterotopias. Brain Dev 32(6), 502-505, 2010.

Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N. Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet 86(6):881-889, 2010.

Saitsu H, Kato M, Okada I, Orii KE, Kondo N, Wada T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Osaka H, Hayasaka K, Matsumoto N. STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern. Epilepsia 51(12): 2397-2405, 2010

Sakai H#, Yoshida K# (#denotes equal contribution), Shimizu Y, Morita H, Ikeda S-i, Matsumoto N. Analysis of an insertion mutation in a cohort of 93 patients with spinocerebellar ataxia type 31 (SCA31) from Nagano, Japan. Neurogenet 11(4): 409-415, 2010

Osaka H, Yamamoto R, Hamanoue H, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K. Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-Like Disease. Ann Neurol 68(2): 250-254, 2010

Nishimura A, Hiraki Y, Shimoda H, Tadaki H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation. Am J Med Genet 152A(5):1322-1325, 2010

Komoike Y, Fujii K, Nishimura A, Hiraki Y, Michiko, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi M, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T. Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. Genesis 48(4): 233-243, 2010.

Doi H, Koyano S, Miyatake S, Matsumoto N, Kameda T, Tomita A, Miyaji Y, Suzuki Y, Sawaishi Y, Kuroiwa Y. Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: Clinical features and (99m)Tc-ECD brain perfusion SPECT findings. J Neurol Sci 290 (1-2): 172-176, 2010.

Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki T, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Loss of decorin dermatan sulfate impairing collagen bundle formation in a new type of Ehlers-Danlos syndrome. Hum Mut 31(8): 966-974, 2010

Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyamab M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N. A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-related Manifestations. Am J Med Genet 152A (6): 1333-1346, 2010.

Kimura S, Saitsu H, Blanka A, Schaumann BA, Shiota K, Matsumoto N, and Ishibashi M. Rudimentary Claws and Pigmented Nail-like Structures on the Distal Tips of the Digits of Wnt7a Mutant Mice: Wnt7a Suppresses Nail-like Structure Development in Mice. Birth Defects Res A Clin Mol Teratol 88(6):487-496, 2010

Kanazawa K, Kumada S, Mitsuhiro K, Saitsu H, Kurihara E, Matsumoto N. Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene. Mov Disord 25(13):2265-2267, 2010

Yamada-Okabe T, Imamura K, Kawaguchi N, Sakai H, Yamashita M, Matsumoto N. Functional characterization of the zebrafish WHSC1-related gene, a homologue of human NSD2. Biochem Biophys Res Commun 402(2): 335-339, 2010.


2009

Matsumoto N. Gene analysis of Marfan syndrome. Proceedings of VIII annual international symposium on advances in understanding aortic diseases. 23-27, 2009

Yoshida K, Shimizu Y, Morita H, Okano T, Sakai H, Ohata T, Matsumoto N, Katsuya Nakamura K, Tazawa K-i, Ohara S, Tabata K, Inoue A, Sato S, Shimojima Y, Hattori T, Ushiyama M, Ikeda S-i. Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano area of Japan. Cerebellum 8:46-51, 2009.

Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Fumiki H, Matsumoto N. A locus for Ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet 149A(3): 336-342, 2009.

Kuniba H, Yoshiura KI, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. J Hum Genet 54(5): 304-309, 2009

Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N. Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split foot malformation and hearing loss. Am J Med Genet 149A(6):1224-1230, 2009.

Kasuga K, Shimohata T, Nishimura A, Shiga A, Mizuguchi T, Tokunaga J, Ohno T, Miyashita A, Kuwano R, Matsumoto N, Onodera O, Nishizawa M, *Ikeuchi T. Identification of Independent APP Locus Duplication in Japanese Patients with Early-Onset Alzheimer's Disease. J Neurol Neurosurg Psychiatry 80(9): 1050-1052, 2009.

Hamanoue H, Rahayuningsih SE, Hirahara Y, Itoh J, Yokoyama U, Mizuguchi T, Saitsu H, Hirahara F, Matsumoto N. Gene screening of 104 patients with congenital heart disease revealed a fresh GATA4 mutation in atrial septal defect. Cardiol Young 19: 482-485, 2009.


2008

Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S-i, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 40(6): 782-788, 2008

Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science 321 (5890): 839-843, 2008

Sato D, Kawara H, Shimokawa O, Harada N, Tonoki H, Takahashi N, Imai Y, Kimura H, Matsumoto N, Ariga T, Niikawa N, Yoshiura K. A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region. Am J Med Genet: 146A (1): 124-127, 2008

Yamada-Okabe T, Matsumoto N. Decreased serum dependence in the growth of NIH3T3 cells from the overexpression of human nuclear receptor-binding SET-domain-containing protein (NSD1) or fission yeast su(var)3-9, enhancer-of-zeste, trithorax 2 (SET2). Cell Biochemistry and Function 26:146-150, 2008

Hiraki Y, Okamoto N, Ida T, Nakata Y, Kamada M, Kanemura Y, Yamasaki M, Fujita H, Nishimura G, Kato M, Harada N, Matsumoto N. Two New Cases of Pure 1q Terminal Deletion Presenting With Brain Malformations. Am J Med Genet A 146A: 1241-1247, 2008

Paez M, Yamamoto T, Hayashi K-i, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R.  Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits. Am J Med Genet A 146A: 1158-1165, 2008

Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y. De novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment. Clin Dysmorphol 17(1):31-34, 2008.

Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N. Craniosynostosis in a patient with a de novo 15q15-q22 deletion. Am J Med Genet 146A(11): 1462-1465, 2008

Mochizuki J, Saitsu H, Mizuguchi M, Visser R, Miyake N, Unno N, Matsumoto N. Alu-related 5q35 microdeletions in Sotos syndrome. Clin Genet 74:384-391, 2008.

Ozeki Y, Mizuguchi T, Hirabayashi N, Ogawa M, Ohmura N, Moriuchi M, Harada N, Matsumoto N, Kunugi H. A Case of Schizophrenia with Chromosomal Microdeletion of 17p11.2 Containing a Myelin-Related Gene PMP22. The Open Psychiatry Journal 2:1-4, 2008

Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura K-i, Niikawa N. Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. J Med Genet 45(7):479-80, 2008

Nishimura A, Takano T, Mizuguchi T, Saitsu H, Takeuch Y, Matsumoto N. CDKL5 disruption by t(X;18) in a girl with West syndrome. Clin Genet 74:288-290, 2008

Yamamoto T, Dowa Y, Ueda H, Kawataki M, Asou T, Sasaki Y, Harada N, Matsumoto N, Matsuoka R, Kurosawa K. Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1. Am J Med Genet A 160A: 1575-1580, 2008

Kuniba H, Sato D, Yoshiura KI, Ohashi H, Kurosawa K, Miyake N, Kondoh T, Matsumoto T, Nagai T, Okamoto N, Fukushima Y, Naritomi K, Matsumoto N, Niikawa N. No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome. Am J Med Genet A 146A(11):1893-1896, 2008.

Mizuguchi T, Hashimoto R, Itokawa M, Sano A, Shimokawan O, Yoshimura Y, Harada N, Miyake N, Nishimura A, Saitsu H, Sosonkina N, Niikawa N, Kunugi H, Matsumoto N. Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia. J Hum Genet 53:914-919, 2008.

Watanabe Y, Sakai H, Nishimura A, Miyake N, Saitsu H, Mizuguchi T, Matsumoto N. Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. Am J Med Genet A 146A: 3070-3074, 2008.

Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K-I, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y. Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncampaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36. Am J Med Genet A 146A: 2891-2897, 2008

Visser R, Matsumoto N. NSD1 and Sotos syndrome: 1032-1037, Inborn Errors of Development 2nd Edition. Edited by Epstein C, Erickson R, and Wynshaw-Boris A. Oxford University Press, Inc. 2008.


2007

Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi M, Matsumoto N. Angelman syndrome caused by an identical familial 1487-kb deletion. Am J Med Genet 143A(1): 98-101, 2007.

Mizuguch T, Matsumoto N. Recent advance in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 52(1): 1-12, 2007.

Yamasaki-Ishizaki Y, Kayashima T, Christophe M, Soejima H, Ohta T, Masuzaki H, Kinoshita A, Urano T, Yoshiura K, Matsumoto N, Ishimaru T, Mukai T, Niikawa N, Kishino T. Role of DNA methylation and histone H3 Lysine 27 methylation in tissue-specific imprinting of mouse Grb10.  Mol Cell Biol  27(2):732-742, 2007.

Nakashima M, Takamura N, Namba H, Saenko V, Meirmanov S, Matsumoto N, Hayashi T, Maeda S, Sekine I. RET oncogene amplification in thyroid cancer: correlations with radiation-associated and high-grade malignancy. Hum Pathol 38(4): 621-628, 2007.

Sato D, Shimokawa O, Harada N, Olsen5 OE, Hou J-W, Muhlbauer W, Blinkenberg  E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Ariga T, Niikawa N, Yoshiura K. Congenital Arhinia: Molecular-genetic Analysis of Five Patients. Am J Med Genet 143A(6):546-552, 2007.

Nishimura A, Sakai H, Ikegawa S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. Am J Med Genet 143A(7):694-698, 2007.

Sosonkina N, Miyake N, Harada H, Starenki D, Ohta T, Fukushima Y, T Kosho, Niikawa N, Matsumoto N. Less frequent NSD1-intragenic deletions in Japanese Sotos syndrome: Analysis of 30 patients by NSD1-exon array CGH, quantitative fluorescent duplex PCR, and fluorescence in situ hybridization. Acta Medica Nagasakiensia 52:29-34, 2007.

Togashi Y, Sakoda H, Nishimura A, Matsumoto N, Hiraoka H, Matsuzawa Y. A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. Internal Medicine 2007;46(24):1995-2000, 2007

2006

Kurotaki N, Matsumoto N. Sotos syndrome.  Genomic disorders: The genomic basis of disease: 237-246, 2006. Edited by Lupski JR and Stankiewicz PT. The Humana Press Inc, Totowa, NJ, USA

Kanemoto N, Kanemoto K, Nishimura G, Kamoda T, Visser R, Shimokawa O, Matsumoto N. Nevo syndrome : a variant of Sotos syndrome? Am J Med Genet 140A(1): 70-73, 2006

Yamomoto T, Ueda H, Kawataki M, Yamanaka M, Asou T, Kondoh Y, Harada N, Matsumoto N, Kurosawa K. A large interstitial deletion of 17p11.2-13.1 including the Smith-Magenis region in a patient with congenital multiple anomalies. Am J Med Genet 140A(1):88?91, 2006.

Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou J-H, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki T, Nomura M, Yoshiura K-I, Kishino T, Ohta T, Niikawa N, Matsumoto N. No causative genomic aberrations by BAC array CGH in Kabuki make-up syndrome. Am J Med Genet 140A(3): 291-293, 2006.

Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K-I, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet 140A (3): 205-211, 2006.

Kawara H, Yamamoto T, Harada N, Yoshiura K,  Niikawa N,  Nishimura A,  Mizuguchi M,  Matsumoto N. Narrowing Candidate Region for Monosomy 9p Syndrome to a 4.7-Mb Segment at 9p22.2-p23. Am J Med Genet 140A (4): 373-377, 2006.

Visser R,  Hasegawa T, Niikawa N, Matsumoto N. Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype. J Hum Genet 51(1):15-20, 2006.

Ohata T, Yoshida K,  Sakai H, Hamanoue H, Mizuguchi T, Shimizu Y, Okano T, Takada F, Fukushima Y, Ikeda S, Matsumoto N. The prevalent ?16C>T change at the 5’ UTR of the puratropin-1 gene in autosomal dominant cerebellar ataxia in Nagano. J Hum Genet 51(5): 461-466, 2006.

Miura S, Miura K, Masuzaki H, Miyake N, Yoshiura K-i, Sosonkina N, Harada N, Shimokawa O, Nakayama D, Yoshimura S, Matsumoto N, Niikawa N, Ishimaru T Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid. J Hum Genet 51(5): 412-417, 2006.

Hamanoue H, Umezu N, Okuda M, Harada H, Sakai H, Mizuguchi T, Ishikawa H, Takahashi T, Miura K, Hirahara F, Matsumoto N Complete Hydatidiform Mole and Normal Live Birth after Intracytoplasmic Sperm Injection. J Hum Genet 51(5): 477-479, 2006.

Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Alain Verloes A, Okamoto N, Hennekam RCM, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y. Germline KRAS and BRAF mutations in cardio-facio-cutaneous (CFC) syndrome. Nat Genet 38(3): 294-296, 2006.

Sato H, Miyamoto T, Yogev L, Namiki M, Koh E, Hayashi H, Sasaki Y, Ishikawa M, Lamb DJ, Matsumoto N, Birk OS, Niikawa N, Sengoku K. Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest. J Hum Genet 51(6): 533-540, 2006.

Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan related phenotypes. Am J Med Genet 140A: 1719-1725, 2006.

Shimokawa O, Harada N, Miyake N, Satoh K, Mizuguchi M, Niikawa N, Matsumoto N. Array Comparative Genomic hybridization analysis in first-trimester spontaneous abortions with ‘normal’ karyotypes. Am J Med Genet 140A(18): 1931-1935, 2006.

Hiraki Y, Fujita H, Yamamori S, Ohashi H, Eguchi M, Harada N, Mizuguchi T, Matsumoto N. Mild craniosynostosis with 1p36.3 trisomy and 1p36.3 deletion syndrome caused by familial translocation t(Y;1). Am J Med Genet 140A(16): 1773-1777, 2006.

Yamamoto T, Sameshima K, Sekido KI, Aida N, Matsumoto N, Naritomi K, Kurosawa K. Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome. Am J Med Genet 140A(12): 1302-1304, 2006.

Miura S, Miura K, Yamamoto T, Yamanaka M, Saito K, Hirabuki T, Kurosawa K,  Harada N, Ishizaki-Yamasaki Y, Matsumoto M, Hirahara F, Yoshiura K, Masuzaki M, Niikawa N. Origin and mechanisms of formation of fetus-in-fetu: Two cases with genotype and methylation analyses. Am J Med Genet 140A(16): 1737-1743, 2006.

Dowa Y, Yamamoto T, Abe Y, Kobayashi M, Hoshino R, Tanaka K, Aida N, Take H, Kato K, Tanaka Y, Ariyama J, Harada N, Matsumoto N, Kurosawa K. Congenital neuroblastoma in a patient with partial trisomy of 2p. J Pediatr Hematol Oncol 28(6): 379-382, 2006.

Horikoshi H, Kato Z, Masuno M, Asano T, Nagase T, Yamagishi Y, Kozawa R, Arai T, Aoki M, Teramoto T, Omoya K, Matsumoto N, Kurotaki N, Shimokawa O, Kurosawa K, Kondo N. Neuroradiologic findings in sotos syndrome. J Child Neurol 21(7):614-618, 2006.

2005

Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N. Identification of a 3.0-kb major recombination hotspot in Sotos syndrome patients with a common 1.9-Mb microdeletion. Am J Hum Genet 76(1):52-67, 2005

Miyake N, Harada N, Okamoto N, Sonoda T, Naritomi K, Chinen Y, Kaname T, Tonoki H, Kondoh T, Kurosawa K, Visser R, Kinoshita A, Yoshiura K-I, Niikawa N, Matsumoto N. Four Novel NIPBL Mutations in Japanese Patients With Cornelia de Lange Syndrome. Am J Med Genet 135A(1):103-105, 2005

Shimokawa O, Miyake N, Yoshimura T, Sosonkina N, Harada N, Mizuguchi T, Kondoh S, Kishino K, Ohta T, Visser R, Takashima T, Kinoshita A, Yoshiura K, Niikawa N, Matsumoto N. Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet 136A(1):49-51, 2005

Jin Z-B, Liu X-Q, Uchida A, Vervoort R, Morishita K, Hayakawa M, Murakami A, Matsumoto N, Niikawa N, Nao-I N. Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family. Mol Vis 11:535-541, 2005

Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S. NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory. Genet Med 7(8): 524-533, 2005

Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Curr Opin Cardiol 20(3): 194-200, 2005.

Kosaki R, Kosaki K, Matsushima K, Mitsui N, Matsumoto N, Ohashi H. Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication. Congenit Anom 45(2):62-64, 2005.

Visser R,  Shimokawa O,  Harada N,  Niikawa N,  Matsumoto N. Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilized DNA regions. J Med Genet 42 (11): e66, 2005

Yamasaki Y, Kayashima T, Soejima H, Kinoshita A, Yoshiura KI, Matsumoto N, Ohta T, Urano T, Masuzaki H, Ishimaru T, Mukai T, Niikawa N, Kishino T. Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air. Hum Mol Genet 14(17): 2511-2520, 2005

Machida H, Tsukamoto K, Wen CY, Shikuwa S, Isomoto H, Mizuta Y, Takeshima F, Murase K, Matsumoto N, Murata I, Kohno S, Wen CY. Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene. World J Gastroenterol 11(31): 4833-4837, 2005.

Okamoto N, Hatsukawa Y, Shiraishi J, Harada N, Matsumoto N. Chromosome 1q deletion and congenital glaucoma. Pediatr Int 47(4): 477-479, 2005.

Takahira S, Kondoh T, Sumi M, Tagawa M, Obatake M, Kinoshita E, Shimokawa O, Harada N, Miyake N, Matsumoto N, Moriuchi H. Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: A new variant of Dubowitz syndrome? Am J Med Genet 138A (3):297-299, 2005.

2004

Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K-i, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N.  Heterozygous TGFBR2 mutations in Marfan syndrome.  Nat Genet 36(8): 855-860, 2004

Miyoshi Y, Taniike M, Mohri I, Mushiake S, Nakajima S, Matsumoto N, Ozono K. Hormonal and genetical assessment of a Japanese girl with Weaver syndrome. Clin Pediatr Endcrinol 13(1):17-23, 2004

Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Niikawa N, Matsumoto N.  Subtelomere-specific Microarray-based Comparative Genomic Hybridization: A Rapid Detection System for Cryptic Rearrangements in Idiopathic Mental Retardation.  J Med Genet 41: 130-136, 2004

Yamada T, Mitsuya K, Kayashima T, Yamasaki K, Ohta T, Yoshiura K, Matsumoto N, Yamada H, Minakami H, Oshimura M, Niikawa N, Kishino T. Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32.  Genomics 83(3):402-412, 2004

Iwakoshi M, Okamoto N,  Harada N,  Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.  9q34.3 deletion syndrome in three unrelated children.  Am J Med Genet 126A(3): 278-283, 2004

Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N.  A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.  Am J Med Genet 127A(1):54-57, 2004

Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K,  Kishino T, Ohta T, Niikawa N, Matsumoto N.  Molecular Dissection of Inverted Duplication 8p23.  Am J Med Genet 128A(2):133-137, 2004

Miyake N, Harada N, Shimokawa S, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V,  Yoshiura K-i, Ohta T, Kishino T, Niikawa N, Matsumoto N..  On the Reported 8p22-p23.1 Duplication in Kabuki Make-up Syndrome (KMS) and its Absence in Patients With Typical KMS.  Am J Med Genet 128A(2):170-172, 2004

Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura KI.  LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.  J Hum Genet 49:80-86, 2004

Miyake N,  Tonoki H,  Gallego M,  Harada N,  Shimokawa S, Yoshiura K, Ohta T,  Kishino T,  Niikawa N, Matsumoto N. Phenotype?genotype correlation in two patients with 12q proximal deletion. J Hum Genet 49(5):282-284, 2004

Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N.  A novel GATA4 mutation completely segregated with atrial septal defect in a large Japnese family. J Med Genet 41(7): E97, 2004

Kurosawa K, Harada N, Saitoh S, Sosonkina N, Niikawa N, Matsumoto N. Unmasking 15q12 Deletion Using Microarray-based Comparative Genomic Hybridization in a Mentally Retarded Boy With r(Y). Am J Med Genet 130A(3): 322-324, 2004

Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N.  A 1-Mb critical region in 6 patients with 9q34.3 terminal deletion syndrome. J Hum Genet 49(8):440-444, 2004

Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita K, Yoshiura K.-i., Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N.  The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.  J Hum Genet 49(7): 360-365, 2004

2003

Yamada K, Andrews C, Chan W-M, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, OKeefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Lisa Morris, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Blaine L Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkaemper P, Gottlob I, Kowal L, Battu R, Traboulsi BI, Franceschini P, Newlin A, Demer JL, Engle EC.  Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).  Nat Genet 35 (4): 318-321, 2003

Visser R, Matsumoto N.  Genetics of Sotos syndrome (Invited review).   Curr Opin Pediatr 15(6):598-606, 2003

Matsumoto N, Niikawa N.  Kabuki Make-up Syndrome: A Review.  Am J Med Genet 117C(1):57-65, 2003

Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai N, Ozaki T, Touyama T, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng J-F, Yoshiura K-i, Ohta T, Kishino T, Niikawa N, Matsumoto N.  Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion.  Hum Mut 22(5):378-387, 2003

Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N.  Identification of 8 novel NSD1 mutations in Sotos syndrome.  J Med Genet 40: e126, 2003

Sugawara H, Harada N, Ida  T, Ishida T, Ledbetter DH, Yoshiura K,  Ohta T,  Kishino T, Niikawa N,  Matsumoto N. Complex low copy repeats associated with a common polymorphic inversion at human chromosome 8p23.  Genomics 82(2):238-44, 2003

Ida T, Miharu N, Hayashitani M, Shimokawa O, Harada N, Samura O, Kubota T, Niikawa N, Matsumoto N.  Functional Disomy for Xq22-q23 in a Girl with Complex Rearrangements of Chromosomes 3 and X.  Am J Med Genet 120A:557?561, 2003

Kayashima T, Yamasaki K, Joh K, Yamada T, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Mukai T, Niikawa N, Kishino T.  Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.  Genomics. 81(6):644-647, 2003

Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K-i, Ohta T, Kishino T, Niikawa N, Matsumoto N.  Inv dup del(4)(:p14->p16.3::p16.3->qter) With Manifestations of Partial Duplication 4p and Wolf-Hirschhorn Syndrome.  Am J Med Genet 120A(1): 123-126, 2003

Saenko V, Rogounovitch T, Shimizu-Yoshida Y, Abrosimov A, Lushnikov E, Roumiantsev P, Matsumoto N, Nakashima M, Meirmanov S, Ohtsuru A, Namba H, Tsyb A, Yamashita S. Novel tumorigenic rearrangement, ?rfp/ret, in a papillary thyroid carcinoma from externally irradiated patient.  Mutat Res 527(1-2):81-91, 2003 (A section of fundamental and molecular mechanisms of mutagenesis)

Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara T, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N.  Preferential paternal origin of microdeletion caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.  Am J Hum Genet 2(5):1331-1337, 2003

Kayashima T, Yamasaki K, Yamada T, Sakai H, Miwa N, Ohta T, Yoshiura KI, Matsumoto N, Nakane Y, Kanetake H, Ishino F, Niikawa N, Kishino T.  The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain.  Hum Genet 112(3):220-226, 2003

Nagai T, Matsumoto N, Ogata T,  Kurotaki N, Imaizumi K, Kurosawa K, Harada N,  Kondoh T,  Ohashi H, Tsukahara M,  Makita Y, Sugimoto T, Sonoda T,  Yokoyama T,  Uetake K,  Sakazume S,  Fukushima Y,   Niikawa N,  Naritomi  K.  Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.  J Med Genet 40(4): 285-289, 2003

Hoglund P, Kurotaki N, Kytola S, Miyake N, Somer M, Matsumoto M.  Familial Sotos syndrome is caused by a novel one base pair deletion of the NSD1 gene.  J Med Genet 40 (1):51-54, 2003

Sonoda T, Kouno K, Sawada K, Takagi J, Nunoi H, Harada N, Matsumoto N.  A dup(22)(q11.22-q11.23) without coloboma and cleft lip or palate.  Pediatr Int 45(1):97-99, 2003

Broman KW, Matsumoto N, Giglio S, Martin CL, Roseberry JA, Zuffardi O, Ledbetter DH, Weber JL. Common long human inversion polymorphism on chromosome 8p. In: Goldstein DR (ed) Science and Statistics: A Festschrift for Terry Speed. IMS Lecture Notes-Monograph Series 40: 237-245, 2003.

2002

Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T.  Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet 47 (2):  77-79, 2002

Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yosiura K-i.  A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.  J Hum Genet 47 (3): 136-139, 2002.

Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins MLZ, Morris L, Monte MD, Magli A, de Berardinis T. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.  BMC genetics 3 (1):3 2002

Harada N, Nagai T, Shimokawa O, Niikawa N, Matsumoto N.  A 4q21-q22 deletion in a girl with severe growth retardation.  Clin Genet 61(3):226-8, 2002.

Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H-A, Kinoshita A, Mizuguchi T, Yoshiura K-I, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N.  Haploinsufficiency of the NSD1 gene causes Sotos syndrome.  Nat Genet 30 (4): 365-366, 2002

Harada N,  Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K-I, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N. Duplication of 8p23.2: a benign cytogenetic variant? Am J Med Genet 111 (3): 285-288, 2002

Sugawara H, Egashira M, Harada N, Jakobs TC, Yoshiura K, Kishino T, Ohta T, D'Urso M, Rinaldi MM, Ventruto V, Niikawa N, Matsumoto N.  Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia.  J Med Genet 39 (7): e34, 2002

Nagai T, Shimokawa O, Harada N, Sakazume S, Ohashi H, Matsumoto N, Obata K, Yoshino A, Murakami N, Murai T, Sakuta R, Niikawa N.  Postnatal Overgrowth by 15q-trisomy and IUGR by 15q-monosomy due to Familial Translocation t(13;15): Dosage Effect of IGF1R?  Am J Med Genet 113(2):173-177, 2002.

Yamada T, Kayashima T, Yamasaki K, Ohta T, Yoshiura K, Matsumoto N, Fujimoto S, Niikawa N, Kishino T.  The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.  Gene 288(1-2):57-63, 2002.

Harada N, Shimokawa O, Nagai T, Kato R, Kondoh T, Niikawa N, Matsumoto N. A 4-Mb critical region for IUGR at 15q26.  Clin Genet 62(4):340-342, 2002

Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N.  A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy.  J Hum Genet 47 (10): 556-559, 2002.

Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K.-i.  Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.  J Hum Genet 47 (8): 395-399, 2002

Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T.  Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.  Am J Med Genet 111(1):38-42, 2002

Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yosiura K-i.  A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-b1 (TGF-b1) and its signaling pathway.  J Hum Genet 47 (9): 478-483, 2002


2001

Simonic I, Nyholt DR, Gericke GS, Gordon D, Matsumoto N, Ledbetter DH, Ott J, Weber JL: Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners.  Am J Med Genet 105(2):163-167, 2001

Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB: Mutation Analysis of the DCX Gene and Genotype/Phenotype Correlation in Subcortical Band Heterotopia  Eur J Hum Genet 9 (1): 5-12, 2001.

Giglio S, Broman SW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire V, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O: Olfactory receptor (OR) gene clusters, genomic inversion polymorphisms and common chromosome rearrangements.  Am J Hum Genet 68(4):874-883, 2001.

Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, Das S: Incomplete penetrance with normal  MRI in a woman with germline mutation of the DCX gene.  Neurology 57 (2): 327-330, 2001.

Kondoh T, Yamamoto T, Kono Y, Matsumoto T, Sugawara H, Matsumoto N, Moriuchi H: Condition of microcephaly, growth retardation, join contracures, atopic dermatitis, and mental retardation in two Japanese sisters: A new autosomal recessive MCR/MR syndrome?  Am J Med Genet 102 (1):63-67, 2001.

Kato R, Kishibayashi J, Shimokawa O, Harada N, Niikawa N, Matsumoto N.  Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q.  Am J Med Genet 104 (4): 319-322, 2001

Kurotaki N, Harada N, Yoshiura K-I, Kishino T, Sugano S, Niikawa N, Matsumoto N: Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.  Gene 279 (2): 197-204, 2001


2000-1995


Kondo-Saitoh A, Matsumoto N, Sasaki T, Egashira M, Saitoh A, Yamada K, Niikawa N, Amemiya T: Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.  Eur J Ophthalmol 10 (1): 167-172, 2000

Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Dobyns WB: Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.  Mol Med Today 6(7):277-284, 2000.

Matsumoto N, David DE,  Johnson EW,  Konecki D,  Burmester JK,  Ledbetter DH, Weber JL: Breakpoint Sequences of an 1;8 translocation in a family with Gilles de la Tourette Syndrome. Eur J Hum Genet  8(11): 875-883, 2000.

Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WD, Ledbetter DH: The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.  Hum Mol Genet 9(20):3019-3028, 2000

Kondo S, Tomita H-A, Kishino T, Yoshiura K-I, Yamada K, Soeda E, Matsumoto N, Ohta T, Fujii T, Niikawa N: A 1.5-Mb PAC/BAC contig spanning the Prader-Willi syndrome critical region (PWCR).  Acta Med Nagasaki: 45 (1-2): 43-46, 2000.

Ikeda K, Naka S, Egashira M, Matsumoto N, Niikawa N, Iwata N, Yoshimura A: Construction of rice chromosome specific DNA libraries using chromosome microdissection technique and its application for mapping.  J Fac Agr Kyushu Univ 45(1): 73-82, 2000.

Matsumoto N, Pilz DT, Ledbetter DH: Genomic  Structure, Chromosome Mapping, and Expression Pattern of the human DCAMKL1 gene, a homologue of DCX. Genomics 56(2): 179-183, 1999

Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ: Defferences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.  Neurology 53 (2): 270-277, 1999

Matsumoto N, Ledbetter DH: Molecular cloning and characterization of the human NUDC gene.  Hum Genet  104(6): 498-504, 1999

Pilz DT, Kuc J, Matsumoto N, Bordurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH: Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.  Hum Mol Genet 8 (9):1757-1760, 1999

Matsumoto N, Pilz DT, Fantes JA, Kittikamron K, Ledbetter DH: Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. J Med Genet 35(10):829-832, 1998.

Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME: LIS1 and XLIS (DCX) mutations cause most human classical lissencephaly, but different patterns of malformation.  Hum Mol Genet 7(13): 2029-2037, 1998.

Matsumoto N, Ohashi H, Kato R, Fujimoto M, Tsujita T, Sasaki T, Nakano M, Miyoshi O, Fukushima Y, Niikawa N: Molecular Mapping of a Translocation Breakpoint at 14q13 in a Patient with Mirror-Image Polydactyly of Hands and Feet.  Hum Genet 99(4):450-453, 1997

Kato R, Matsumoto N, Niikawa N: Assignment of the human connexin43 gene, GJA1, to chromosome 6q22.3.  Jpn J Hum Genet 42(1): 213-216, 1997.

Matsumoto N, Ohashi H, Tsukahara M, Kim K-C, Soeda E, Niikawa N: Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2.  Am J Hum Genet 60(4):997-999, 1997.

Matsumoto N, Soeda E, Ohashi H, Fujimoto M, Kato R, Tsujita T, Tomita H, Kondo S, Fukushima Y, Niikawa N: A 1.2-Megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2;14) in a mirror-image polydactyly patient. Genomics 45(1):11-16, 1997.

Fujimoto M, Matsumoto N, Tsujita T, Tomita H, Kondo S, Miyake N, Nakano M, Niikawa N: Characterization of the promoter region, first 10 exons and 9 intron-exon boundaries of the DNA-dependent protein kinase catalytic subunit gene, DNA-PKcs (XRCC7).  DNA Res 4(2): 151-154, 1997.

Kato R, Matsumoto N, Nakano M, Fujimoto M, Soeda E, Nakamura Y, Niikawa N: FISH mapping of a translocation breakpoint at 6q21 (or 6q22) in a patient with heterotaxi.  Jpn J Hum Genet 42(4): 525-532, 1997.

Watanabe Y, Matsumoto N, Ohta T, Tsujita T, Jinno Y, Komatsu K, Niikawa N: Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation. .  Jpn J Hum Genet 41(1):149-158, 1996.

Soejima H, Fujimoto M, Tsukamoto K, Matsumoto N, Yoshiura K, Fukushima Y, Jinno Y, Niikawa N: Three novel PAX3 mutations observed in patients with Waardenburg syndrome type I. Hum Mutat 9(2):177-180, 1997

Matsumoto N, Fujimoto M, Kato R, Niikawa N: Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization.  Genomics 36(1): 220-221, 1996.

Sasaki T, Matsumoto N, Jinno Y, Niikawa N, Sakai H, Kanetake H, Saito Y: Assignment of the human b-microseminoprotein gene (MSMB) to chromosome 10q11.2.   Cytogenet Cell Genet 72(2-3):177-178, 1996.

Coelho K-E FA, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N: Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting.   Am J Med Genet 63(3):468-471, 1996.

Watanabe Y, Matsumoto N, Ohta T, Tsujita T, Jinno Y, Komatsu K, Niikawa N: Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation. .  Jpn J Hum Genet 41(1):149-158, 1996.

Kobayashi T, Kawaguchi T, Kishino T, Matsumoto N, Niikawa N, Mori M, Levan G, Hino O: Isolation of microdissection clones from rat chromosome 10.  Mamm Genome 6(3): 216-218, 1995.

Matsumoto N, Saitoh N, Harada N, Tanaka K, Niikawa N: DNA-based prenatal carrier detection for group A xeroderma pigmentosum in a chorionic villus sample.  Prenat Diag 15(7):675-677, 1995.

Nonomura K, Matsumoto N, Yoshimura J, Niikawa N, Iwata N: Chromosome 4-specific DNA library of rice by microdissection technique.  Rice Genet Newslet 11: 180-182, 1995.

Matsumoto N, Mikawa M, Niikawa N: Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21)(p11).  Am J Med Genet 59(4):521-522, 1995.