Pubblicazioni

Systematic epigenome editing captures the context-dependent instructive function of chromatin modifications

2024 - NATURE GENETICS

Policarpi, Cristina; MunafÃ², Marzia; Tsagkris, Stylianos; Carlini, Valentina; Hackett, Jamie A

Characterizing the evolutionary dynamics of cancer proliferation in single-cell clones with SPRINTER

2024 - NATURE GENETICS

Lucas, Olivia; Ward, Sophia; Zaidi, Rija; Bunkum, Abigail; Frankell, Alexander M; Moore, David A; Hill, Mark S; Liu, Wing Kin; Marinelli, Daniele; Lim, Emilia L; Hessey, Sonya; Naceur-Lombardelli, Cristina; Rowan, Andrew; Purewal-Mann, Sukhveer Kaur; Zhai, Haoran; Dietzen, Michelle; Ding, Boyue; Royle, Gary; Aparicio, Samuel; Mcgranahan, Nicholas; Jamal-Hanjani, Mariam; Kanu, Nnennaya; Swanton, Charles; Zaccaria, Simone

Large-scale sequencing identifies multiple genes and rare variants associated with Crohnâs disease susceptibility

2022 - NATURE GENETICS

Sazonovs, A.; Stevens, C. R.; Venkataraman, G. R.; Yuan, K.; Avila, B.; Abreu, M. T.; Ahmad, T.; Allez, M.; Ananthakrishnan, A. N.; Atzmon, G.; Baras, A.; Barrett, J. C.; Barzilai, N.; Beaugerie, L.; Beecham, A.; Bernstein, C. N.; Bitton, A.; Bokemeyer, B.; Chan, A.; Chung, D.; Cleynen, I.; Cosnes, J.; Cutler, D. J.; Daly, A.; Damas, O. M.; Datta, L. W.; Dawany, N.; Devoto, M.; Dodge, S.; Ellinghaus, E.; Fachal, L.; Farkkila, M.; Faubion, W.; Ferreira, M.; Franchimont, D.; Gabriel, S. B.; Ge, T.; Georges, M.; Gettler, K.; Giri, M.; Glaser, B.; Goerg, S.; Goyette, P.; Graham, D.; Hamalainen, E.; Haritunians, T.; Heap, G. A.; Hiltunen, M.; Hoeppner, M.; Horowitz, J. E.; Irving, P.; Iyer, V.; Jalas, C.; Kelsen, J.; Khalili, H.; Kirschner, B. S.; Kontula, K.; Koskela, J. T.; Kugathasan, S.; Kupcinskas, J.; Lamb, C. A.; Laudes, M.; Levesque, C.; Levine, A. P.; Lewis, J. D.; Liefferinckx, C.; Loescher, B. -S.; Louis, E.; Mansfield, J.; May, S.; Mccauley, J. L.; Mengesha, E.; Mni, M.; Moayyedi, P.; Moran, C. J.; Newberry, R. D.; O'Charoen, S.; Okou, D. T.; Oldenburg, B.; Ostrer, H.; Palotie, A.; Paquette, J.; Pekow, J.; Peter, I.; Pierik, M. J.; Ponsioen, C. Y.; Pontikos, N.; Prescott, N.; Pulver, A. E.; Rahmouni, S.; Rice, D. L.; Saavalainen, P.; Sands, B.; Sartor, R. B.; Schiff, E. R.; Schreiber, S.; Schumm, L. P.; Segal, A. W.; Seksik, P.; Shawky, R.; Sheikh, S. Z.; Silverberg, M. S.; Simmons, A.; Skeiceviciene, J.; Sokol, H.; Solomonson, M.; Somineni, H.; Sun, D.; Targan, S.; Turner, D.; Uhlig, H. H.; van der Meulen, A. E.; Vermeire, S.; Verstockt, S.; Voskuil, M. D.; Winter, H. S.; Young, J.; Duerr, R. H.; Franke, A.; Brant, S. R.; Cho, J.; Weersma, R. K.; Parkes, M.; Xavier, R. J.; Rivas, M. A.; Rioux, J. D.; Mcgovern, D. P. B.; Huang, H.; Anderson, C. A.; Daly, M. J.

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

2021 - NATURE GENETICS

Harper, A. R.; Goel, A.; Grace, C.; Thomson, K. L.; Petersen, S. E.; Xu, X.; Waring, A.; Ormondroyd, E.; Kramer, C. M.; Ho, C. Y.; Neubauer, S.; Kolm, P.; Kwong, R.; Dolman, S. F.; Desvigne-Nickens, P.; Dimarco, J. P.; Geller, N.; Kim, D. -Y.; Zhang, C.; Weintraub, W.; Abraham, T.; Anderson, L.; Appelbaum, E.; Autore, C.; Berry, C.; Biagini, E.; Bradlow, W.; Bucciarelli-Ducci, C.; Chiribiri, A.; Choudhury, L.; Crean, A.; Dawson, D.; Desai, M. Y.; Elstein, E.; Flett, A.; Friedrich, M.; Heitner, S.; Helms, A.; Jacoby, D. L.; Kim, H.; Kim, B.; Larose, E.; Mahmod, M.; Mahrholdt, H.; Maron, M.; McCann, G.; Michels, M.; Mohiddin, S.; Nagueh, S.; Newby, D.; Olivotto, I.; Owens, A.; Pierre-Mongeon, F.; Prasad, S.; Rimoldi, O.; Salerno, M.; Schulz-Menger, J.; Sherrid, M.; Swoboda, P.; van Rossum, A.; Weinsaft, J.; White, J.; Williamson, E.; Tadros, R.; Ware, J. S.; Bezzina, C. R.; Farrall, M.; Watkins, H.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

2021 - NATURE GENETICS

van Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop1, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; BaÅak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria Pinter, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; DâAlfonso, Sandra; SorarÃ¹, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; ChiÃ², Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourcâh, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, StÃ©phanie; Meininger, Vincent; Salachas, FranÃ§ois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-GarcÃa, Ricardo; Dion, Patrick; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; DÃ¼rr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; NÃ¶then, Markus M.; Amouyel, Philippe; Consortium, Slalom; Consortium, Parals; Consortium, Slagen; Consortium, Slap; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; RÃ¶diger, Annekathrin; Gaur, Nayana; JÃ¶rk, Alexander; Barthel, Tabea; Theele, Erik; Ilse105, Benjamin; Stubendorff105, Beatrice; Witte105, Otto W.; Steinbach 105, Robert; HÃ¼bner107, Christian A.; Graff108, Caroline; Lev, Brylev; Fominykh, Vera; Demeshonok112, Vera; Ataulina109, Anastasia; Rogelj, Boris; Koritnik 116, BlaÅ¾; Zidar116, Janez; Ravnik-GlavaÄ117, Metka; GlavaÄ118, Damjan; SteviÄ119, Zorica; Drory44, Vivian; 120, ; Povedano61, Monica; Blair, Ian P.; Kiernan122, Matthew C.; Benyamin10, Beben; 123, ; Henderson124, Robert D.; 125, ; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; B, Dominic; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto20, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles; Breen, Gerome; Glass, Jonathan; Brown, Robert H.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J. N.; van Es, Michael A.; Jeroen Pasterkamp, R.; F, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink Vincenzo Silani, Jan H.; Ticozzi, Nicola; Ratti, Antonia; F, Isabella; Tiloca, Cinzia; Peverelli, Silvia; Gellera, Cinzia; Lauria Pinter, Giuseppe; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Corti, Stefania; Del Bo, Roberto; Cereda, Cristina; Ceroni, Mauro; Gagl

MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome

2020 - NATURE GENETICS

Fasciani, A.; D'Annunzio, S.; Poli, V.; Fagnocchi, L.; Beyes, S.; Michelatti, D.; Corazza, F.; Antonelli, L.; Gregoretti, F.; Oliva, G.; Belli, R.; Peroni, D.; Domenici, E.; Zambrano, S.; Intartaglia, D.; Settembre, C.; Conte, I.; Testi, C.; Vergyris, P.; Ruocco, G.; Zippo, A.

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

2020 - NATURE GENETICS

Orru, V.; Steri, M.; Sidore, C.; Marongiu, M.; Serra, V.; Olla, S.; Sole, G.; Lai, S.; Dei, M.; Mulas, A.; Virdis, F.; Piras, M. G.; Lobina, M.; Marongiu, M.; Pitzalis, M.; Deidda, F.; Loizedda, A.; Onano, S.; Zoledziewska, M.; Sawcer, S.; Devoto, M.; Gorospe, M.; Abecasis, G. R.; Floris, M.; Pala, M.; Schlessinger, D.; Fiorillo, E.; Cucca, F.

Genomic subtyping and therapeutic targeting of acute erythroleukemia

2019 - NATURE GENETICS

Iacobucci, I.; Wen, J.; Meggendorfer, M.; Choi, J. K.; Shi, L.; Pounds, S. B.; Carmichael, C. L.; Masih, K. E.; Morris, S. M.; Lindsley, R. C.; Janke, L. J.; Alexander, T. B.; Song, G.; Qu, C.; Li, Y.; Payne-Turner, D.; Tomizawa, D.; Kiyokawa, N.; Valentine, M.; Valentine, V.; Basso, G.; Locatelli, F.; Enemark, E. J.; Kham, S. K. Y.; Yeoh, A. E. J.; Ma, X.; Zhou, X.; Sioson, E.; Rusch, M.; Ries, R. E.; Stieglitz, E.; Hunger, S. P.; Wei, A. H.; To, L. B.; Lewis, I. D.; D'Andrea, R. J.; Kile, B. T.; Brown, A. L.; Scott, H. S.; Hahn, C. N.; Marlton, P.; Pei, D.; Cheng, C.; Loh, M. L.; Ebert, B. L.; Meshinchi, S.; Haferlach, T.; Mullighan, C. G.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

2017 - NATURE GENETICS

Phelan, Catherine M; Kuchenbaecker, Karoline B; Tyrer, Jonathan P; Kar, Siddhartha P; Lawrenson, Kate; Winham, Stacey J; Dennis, Joe; Pirie, Ailith; Riggan, Marjorie J; Chornokur, Ganna; Earp, Madalene A; Lyra, Paulo C; Lee, Janet M; Coetzee, Simon; Beesley, Jonathan; Mcguffog, Lesley; Soucy, Penny; Dicks, Ed; Lee, Andrew; Barrowdale, Daniel; Lecarpentier, Julie; Leslie, Goska; Aalfs, Cora M; Aben, Katja K. H; Adams, Marcia; Adlard, Julian; Andrulis, Irene L; Anton Culver, Hoda; Antonenkova, Natalia; Aravantinos, Gerasimos; Arnold, Norbert; Arun, Banu K; Arver, Brita; Azzollini, Jacopo; BalmaÃ±a, Judith; Banerjee, Susana N; Barjhoux, Laure; Barkardottir, Rosa B; Bean, Yukie; Beckmann, Matthias W; Beeghly Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Bernardini, Marcus Q; Birrer, Michael J; Bjorge, Line; Black, Amanda; Blankstein, Kenneth; Blok, Marinus J; Bodelon, Clara; Bogdanova, Natalia; Bojesen, Anders; Bonanni, Bernardo; Borg, Ãke; Bradbury, Angela R; Brenton, James D; Brewer, Carole; Brinton, Louise; Broberg, Per; Brooks Wilson, Angela; Bruinsma, Fiona; Brunet, Joan; Buecher, Bruno; Butzow, Ralf; Buys, Saundra S; Caldes, Trinidad; Caligo, Maria A; Campbell, Ian; Cannioto, Rikki; Carney, Michael E; Cescon, Terence; Chan, Salina B; Chang Claude, Jenny; Chanock, Stephen; Chen, Xiao Qing; Chiew, Yoke Eng; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B. M; Conner, Thomas; Cook, Linda S; Cook, Jackie; Cramer, Daniel W; Cunningham, Julie M; D'Aloisio, Aimee A; Daly, Mary B; Damiola, Francesca; Damirovna, Sakaeva Dina; Dansonka Mieszkowska, Agnieszka; Dao, Fanny; Davidson, Rosemarie; Defazio, Anna; Delnatte, Capucine; Doheny, Kimberly F; Diez, Orland; Ding, Yuan Chun; Doherty, Jennifer Anne; Domchek, Susan M; Dorfling, Cecilia M; DÃ¶rk, Thilo; Dossus, Laure; Duran, Mercedes; DÃ¼rst, Matthias; Dworniczak, Bernd; Eccles, Diana; Edwards, Todd; Eeles, Ros; Eilber, Ursula; Ejlertsen, Bent; Ekici, Arif B; Ellis, Steve; Elvira, Mingajeva; Eng, Kevin H; Engel, Christoph; Evans, D. Gareth; Fasching, Peter A; Ferguson, Sarah; Ferrer, Sandra Fert; Flanagan, James M; Fogarty, Zachary C; Fortner, RenÃ©e T; Fostira, Florentia; Foulkes, William D; Fountzilas, George; Fridley, Brooke L; Friebel, Tara M; Friedman, Eitan; Frost, Debra; Ganz, Patricia A; Garber, Judy; GarcÃa, MarÃa J; Garcia Barberan, Vanesa; Gehrig, Andrea; Gentry Maharaj, Aleksandra; Gerdes, Anne Marie; Giles, Graham G; Glasspool, Rosalind; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Goranova, Teodora; Gore, Martin; Greene, Mark H; Gronwald, Jacek; Gruber, Stephen; Hahnen, Eric; Haiman, Christopher A; HÃ¥kansson, Niclas; Hamann, Ute; Hansen, Thomas V. O; Harrington, Patricia A; Harris, Holly R; Hauke, Jan; Hein, Alexander; Henderson, Alex; Hildebrandt, Michelle A. T; Hillemanns, Peter; Hodgson, Shirley; HÃ¸gdall, Claus K; HÃ¸gdall, Estrid; Hogervorst, Frans B. L; Holland, Helene; Hooning, Maartje J; Hosking, Karen; Huang, Ruea Yea; Hulick, Peter J; Hung, Jillian; Hunter, David J; Huntsman, David G; Huzarski, Tomasz; Imyanitov, Evgeny N; Isaacs, Claudine; Iversen, Edwin S; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jernetz, Mats; Jensen, Allan; Jensen, Uffe Birk; John, Esther M; Johnatty, Sharon; Jones, Michael E; Kannisto, PÃ¤ivi; Karlan, Beth Y; Karnezis, Anthony; Kast, Karin; Kennedy, Catherine J; Khusnutdinova, Elza; Kiemeney, Lambertus A; Kiiski, Johanna I; Kim, Sung Won; Kjaer, Susanne K; KÃ¶bel, Martin; Kopperud, Reidun K; Kruse, Torben A; Kupryjanczyk, Jolanta; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; LarraÃ±aga, Nerea; Larson, Melissa C; Lazaro, Conxi; Le, Nhu D; Le Marchand, Loic; Lee, Jong Won; Lele, Shashikant B; Leminen, Arto; Leroux, Dominique; Lester, Jenny; Lesueur, Fabienne; Levine, Douglas A; Liang, Dong; Liebrich, Clemens; Lilyquist, Jenna; Lipworth, Loren; Lissowska, Jolanta; Lu, Karen H; LubinÅski, Jan; Luccarini, Craig; Lundvall, Lene; Mai, Phuong L

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

2017 - NATURE GENETICS

Milne, Rl1; 2, ; Kuchenbaecker, Kb3; 4, ; Michailidou, K3; 5, ; Beesley, J6; Kar, S7; LindstrÃ¶m, S8; 9, ; Hui, S10; LemaÃ§on, A11; Soucy, P11; Dennis, J3; Jiang, X9; Rostamianfar, A10; Finucane, H9; 12, ; Bolla, Mk3; Mcguffog, L3; Wang, Q3; Aalfs, Cm13; Abctb, Investigators; Adams, M14; Adlard, J15; Agata, S16; Ahmed, S7; Ahsan, H17; AittomÃ¤ki, K18; Al-Ejeh, F19; Allen, J3; Ambrosone, Cb20; Amos, Ci21; Andrulis, Il22; 23, ; Anton-Culver, H24; Antonenkova, Nn25; Arndt, V26; Arnold, N27; Aronson, Kj28; Auber, B29; Auer, Pl30; 31, ; Ausems, Mgem32; Azzollini, J33; Bacot, F34; BalmaÃ±a, J35; Barile, M36; Barjhoux, L37; Barkardottir, Rb38; 39, ; Barrdahl, M40; Barnes, D3; Barrowdale, D3; Baynes, C7; Beckmann, Mw41; Benitez, J42; 43, 44; Bermisheva, M45; Bernstein, L46; Bignon, Yj47; Blazer, Kr48; Blok, Mj49; Blomqvist, C50; Blot, W51; 52, ; Bobolis, K53; Boeckx, B54; 55, ; Bogdanova, Nv25; 56, 57; Bojesen, A58; Bojesen, Se59; 60, 61; Bonanni, B36; BÃ¸rresen-Dale, Al62; Bozsik, A63; Bradbury, Ar64; Brand, Js65; Brauch, H66; 67, 68; Brenner, H26; 68, 69; Bressac-de Paillerets, B70; Brewer, C71; Brinton, L72; Broberg, P73; Brooks-Wilson, A74; 75, ; Brunet, J76; BrÃ¼ning, T77; Burwinkel, B78; 79, ; Buys, Ss80; Byun, J21; Cai, Q51; CaldÃ©s, T81; Caligo, Ma82; Campbell, I83; 84, ; Canzian, F85; Caron, O70; Carracedo, A86; 87, ; Carter, Bd88; Castelao, Je89; Castera, L90; Caux-Moncoutier, V91; Chan, Sb; Chang-Claude, J40; 92, ; Chanock, Sj72; Chen, X6; Cheng, Td93; Chiquette, J94; Christiansen, H56; Claes, Kbm95; Clarke, Cl96; Conner, T97; Conroy, Dm7; Cook, J98; Cordina-Duverger, E99; Cornelissen, S100; Coupier, I101; Cox, A102; Cox, Dg103; 104, ; Cross, Ss105; Cuk, K26; Cunningham, Jm106; Czene, K65; Daly, Mb107; Damiola, F37; Darabi, H65; Davidson, R108; De Leeneer, K95; Devilee, P109; 110, ; Dicks, E7; Diez, O111; Ding, Yc46; Ditsch, N112; Doheny, Kf14; Domchek, Sm64; Dorfling, Cm113; DÃ¶rk, T57; Dos-Santos-Silva, I114; Dubois, S11; DuguÃ©, Pa1; 2, ; Dumont, M11; Dunning, Am7; Durcan, L115; 116, ; Dwek, M117; Dworniczak, B118; Eccles, D116; Eeles, R119; Ehrencrona, H120; Eilber, U40; Ejlertsen, B121; Ekici, Ab122; Eliassen, Ah123; 124, Embrace; Engel, C125; 126, ; Eriksson, M65; Fachal, L7; Faivre, L127; 128, ; Fasching, Pa41; 129, ; Faust, U130; Figueroa, J72; 131, ; Flesch-Janys, D132; 133, ; Fletcher, O134; Flyger, H135; Foulkes, Wd136; Friedman, E137; 138, ; Fritschi, L139; Frost, D3; Gabrielson, M65; Gaddam, P140; Gammon, Md141; Ganz, Pa142; Gapstur, Sm88; Garber, J143; Garcia-Barberan, V81; GarcÃa-SÃ¡enz, Ja81; Gaudet, Mm88; Gauthier-Villars, M91; Gehrig, A144; GEMO Study, Collaborators; Georgoulias, V145; Gerdes, Am146; Giles, Gg1; 2, ; Glendon, G22; Godwin, Ak147; Goldberg, Ms148; 149, ; Goldgar, De150; GonzÃ¡lez-Neira, A42; Goodfellow, P151; Greene, Mh152; AlnÃ¦s, Gig62; Grip, M153; Gronwald, J154; Grundy, A155; Gschwantler-Kaulich, D156; GuÃ©nel, P99; Guo, Q157; Haeberle, L41; Hahnen, E158; 159, 160; Haiman, Ca161; HÃ¥kansson, N162; Hallberg, E163; Hamann, U164; Hamel, N34; Hankinson, S165; Hansen, Tvo166; Harrington, P7; Hart, Sn163; Hartikainen, Jm167; 168, 169; Healey, Cs7; Hebon, ; Hein, A41; Helbig, S57; Henderson, A170; Heyworth, J171; Hicks, B172; Hillemanns, P57; Hodgson, S173; Hogervorst, Fb174; Hollestelle, A175; Hooning, Mj175; Hoover, B72; Hopper, Jl2; Hu, C106; Huang, G164; Hulick, Pj176; 177, ; Humphreys, K65; Hunter, Dj9; 124, ; Imyanitov, En178; Isaacs, C179; Iwasaki, M180; Izatt, L181; Jakubowska, A154; James, P84; 182, ; Janavicius, R183; Janni, W184; Jensen, Ub185; John, Em186; 187, ; Johnson, N134; Jones, K172; Jones, M188; Jukkola-Vuorinen, A189; Kaaks, R40; Kabisch, M164; Kaczmarek, K154; Kang, D190; 191, 192; Kast, K193; Kconfab/aocs, Investigators; Keeman, R100; Kerin, Mj194; Kets, Cm195; Keupers, M196; Khan, S197; Khusnutdinova, E45; 198, ; Kiiski, Ji197; Kim, Sw156; Knight, Ja199; 200, ; Konstantopoulou, I201; Kosma, Vm167; 168, 169; Kristensen, Vn62; 202, 203;

Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes

2017 - NATURE GENETICS

De Rooij, J. D. E.; Branstetter, C.; Ma, J.; Li, Y.; Walsh, M. P.; Cheng, J.; Obulkasim, A.; Dang, J.; Easton, J.; Verboon, L. J.; Mulder, H. L.; Zimmermann, M.; Koss, C.; Gupta, P.; Edmonson, M.; Rusch, M.; Lim, J. Y. S.; Reinhardt, K.; Pigazzi, M.; Song, G.; Yeoh, A. E. J.; Shih, L. -Y.; Liang, D. -C.; Halene, S.; Krause, D. S.; Zhang, J.; Downing, J. R.; Locatelli, F.; Reinhardt, D.; Van Den Heuvel-Eibrink, M. M.; Zwaan, C. M.; Fornerod, M.; Gruber, T. A.

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

2016 - NATURE GENETICS

Dunning, Alison M; Michailidou, Kyriaki; Kuchenbaecker, Karoline B; Thompson, Deborah; French, Juliet D; Beesley, Jonathan; Healey, Catherine S; Kar, Siddhartha; Pooley, Karen A; Lopez Knowles, Elena; Dicks, Ed; Barrowdale, Daniel; Sinnott Armstrong, Nicholas A; Sallari, Richard C; Hillman, Kristine M; Kaufmann, Susanne; Sivakumaran, Haran; Marjaneh, Mahdi Moradi; Lee, Jason S; Hills, Margaret; Jarosz, Monika; Drury, Suzie; Canisius, Sander; Kbolla, Manjeet; Dennis, Joe; Wang, Qin; Lhopper, John; Southey, Melissa C; Broeks, Annegien; Schmidt, Marjanka K; Lophatananon, Artitaya; Muir, Kenneth; Beckmann, Matthias W; Fasching, Peter A; Dos Santos Silva, Isabel; Peto, Julian; Sawyer, Elinor J; Tomlinson, Ian; Burwinkel, Barbara; Marme, Frederik; GuÃ©nel, Pascal; Truong, ThÃ©rse; Bojesen, Stig E; Flyger, Henrik; Gonzlez Neira, Anna; Perez, Jose I. A.; Anton Culver, Hoda; Eunjung, Lee; Arndt, Volker; Brenner, Hermann; Meindl, Alfons; Schmutzler, Rita K; Brauch, Hiltrud; Hamann, Ute; Aittomki, Kristiina; Blomqvist, Carl; Ito, Hidemi; Matsuo, Keitaro; Bogdanova, Natasha; DÃ¶rk, Thilo; Lindblom, Annika; Margolin, Sara; Kosma, Veli Matti; Mannermaa, Arto; Tseng, Chiu Chen; Wu, Anna H; Lambrechts, Diether; Wildiers, Hans; Chang Claude, Jenny; Rudolph, Anja; Peterlongo, Paolo; Radice, Paolo; Eolson, Janet; Ggiles, Graham; Milne, Roger L; Haiman, Christopher A; Henderson, Brian E; Goldberg, Mark S; Teo, Soo H; Yip, Cheng Har; Nord, Silje; Borresen Dale, Anne Lise; Kristensen, Vessela; Long, Jirong; Zheng, Wei; Pylks, Katri; Winqvist, Robert; Andrulis, Irene L; Knight, Julia A; Devilee, Peter; Seynaeve, Caroline; Figueroa, Jonine; Sherman, Mark E; Czene, Kamila; Darabi, Hatef; Hollestelle, Antoinette; Van Den Ouweland, Ans M. W.; Humphreys, Keith; Gao, Yu Tang; Shu, Xiao Ou; Cox, Angela; Cross, Simon S; Blot, William; Cai, Qiuyin; Ghoussaini, Maya; Perkins, Barbara J; Shah, Mitul; Choi, Ji Yeob; Kang, Daehee; Lee, Soo Chin; Hartman, Mikael; Kabisch, Maria; Torres, Diana; Jakubowska, Anna; Lubinski, Jan; Brennan, Paul; Sangrajrang, Suleeporn; Ambrosone, Christine B; Toland, Amanda E; Shen, Chen Yang; Wu, Pei Ei; Orr, Nick; Swerdlow, Anthony; Mcguffog, Lesley; Healey, Sue; Lee, Andrew; Kapuscinski, Miroslav; John, Esther M; Terry, Mary Beth; Daly, Mary B; Goldgar, David E; Buys, Saundra S; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia M; Van Rensburg, Elizabeth J; Neuhausen, Susan L; Ejlertsen, Bent; Ohansen, Thomas V; Osorio, Ana; Benitez, Javier; Rando, Rachel; Weitzel, Jeffrey N; Bonanni, Bernardo; Peissel, Bernard; Manoukian, Siranoush; Papi, Laura; Ottini, Laura; Konstantopoulou, Irene; Apostolou, Paraskevi; Garber, Judy; Rashid, Muhammad Usman; Frost, Debra; Izatt, Louise; Ellis, Steve; Godwin, Andrew K; Arnold, Norbert; Niederacher, Dieter; Rhiem, Kerstin; Bogdanova Markov, Nadja; Sagne, Charlotte; Stoppa Lyonnet, Dominique; Damiola, Francesca; Sinilnikova, Olga M; Mazoyer, Sylvie; Isaacs, Claudine; Mclaes, Kathleen B; De Leeneer, Kim; De La Hoya, Miguel; Caldes, Trinidad; Nevanlinna, Heli; Khan, Sofia; Mensenkamp, Arjen R; Hooning, Maartje J; Rookus, Matti A; Kwong, Ava; Olah, Edith; Diez, Orland; Brunet, Joan; Pujana, Miquel Angel; Gronwald, Jacek; Huzarski, Tomasz; Barkardottir, Rosa B; Laframboise, Rachel; Soucy, Penny; Montagna, Marco; Agata, Simona; Teixeira, Manuel R; Kyung Park, Sue; Lindor, Noralane; Couch, Fergus J; Tischkowitz, Marc; Foretova, Lenka; Vijai, Joseph; Offit, Kenneth; Singer, Christian F; Rappaport, Christine; Mphelan, Catherine; Greene, Mark H; Mai, Phuong L; Rennert, Gad; Imyanitov, Evgeny N; Hulick, Peter J; Phillips, Kelly Anne; Piedmonte, Marion; Mulligan, Anna Marie; Glendon, Gord; Bojesen, Anders; Thomassen, Mads; Caligo, Maria A; Yoon, Sook Yee; Friedman, Eitan; Laitman, Yael; Borg, Ake; Von Wachenfeldt, Anna; Ehrencrona, Hans; Rantala, Johanna; Olopade, Olufunmilayo I; Ganz, Patricia A; Nussbaum, Robert L; Gayther, Simon A; Lnathan

High-density mapping of the MHC identifies a shared role for HLA-DRB1â01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

2015 - NATURE GENETICS

Goyette, Philippe; Boucher, Gabrielle; Mallon, Dermot; Ellinghaus, Eva; Jostins, Luke; Huang, Hailiang; Ripke, Stephan; Gusareva, Elena S.; Annese, Vito; Hauser, Stephen L.; Oksenberg, Jorge R.; Thomsen, Ingo; Leslie, Stephen; Daly, Mark J.; Van Steen, Kristel; Duerr, Richard H.; Barrett, Jeffrey C.; Mcgovern, Dermot P. B.; Schumm, L. Philip; Traherne, James A.; Carrington, Mary N.; Kosmoliaptsis, Vasilis; Karlsen, Tom H.; Franke, Andre; Rioux, John D.; Abraham, Clara; Achkar, Jean Paul; Ahmad, Tariq; Amininejad, Leila; Ananthakrishnan, Ashwin N.; Andersen, Vibeke; Anderson, Carl A.; Andrews, Jane M.; Aumais, Guy; Baidoo, Leonard; Baldassano, Robert N.; Balschun, Tobias; Bampton, Peter A.; Barclay, Murray; Bayless, Theodore M.; Bethge, Johannes; Bis, Joshua C.; Bitton, Alain; Brand, Stephan; Brant, Steven R.; Buning, Carsten; Chew, Angela; Cho, Judy H.; Cleynen, Isabelle; Cohain, Ariella; Croft, Anthony; D'Amato, Mauro; Danese, Silvio; De Jong, Dirk; De Vos, Martine; Denapiene, Goda; Denson, Lee A.; Devaney, Kathy L.; Dewit, Olivier; D'Inca, Renata; Dubinsky, Marla; Edwards, Cathryn; Ellinghaus, David; Essers, Jonah; Ferguson, Lynnette R.; Festen, Eleonora A.; Fleshner, Philip; Florin, Tim; Franchimont, Denis; Fransen, Karin; Gearry, Richard; Georges, Michel; Gieger, Christian; Glas, Jurgen; Green, Todd; Griffiths, Anne M.; Guthery, Stephen L.; Hakonarson, Hakon; Halfvarson, Jonas; Hanigan, Katherine; Haritunians, Talin; Hart, Ailsa; Hawkey, Chris; Hayward, Nicholas K.; Hedl, Matija; Henderson, Paul; Hu, Xinli; Hui, Ken Y.; Imielinski, Marcin; Ippoliti, Andrew; Jonaitis, Laimas; Kennedy, Nicholas A.; Khan, Mohammed Azam; Kiudelis, Gediminas; Kugathasan, Subra; Kupcinskas, Limas; Latiano, Anna; Laukens, Debby; Lawrance, Ian C.; Lee, James C.; Lees, Charlie W.; Leja, Marcis; Van Limbergen, Johan; Lionetti, Paolo; Liu, Jimmy Z.; Louis, Edouard; Mahy, Gillian; Mansfield, John; Massey, Dunecan; Mathew, Christopher G.; Milgrom, Raquel; Mitrovic, Mitja; Montgomery, Grant; Mowat, Craig; Newman, Wwilliam; Ng, Aylwin; Ng, Siew C.; Evelyn Ng, Sok Meng; Nikolaus, Susanna; Ning, Kaida; Nothen, Markus; Oikonomou, Ioannis; Palmieri, Orazio; Parkes, Miles; Phillips, Anne; Ponsioen, Cyriel Y.; Potocnik, Uros; Prescott, Natalie J.; Proctor, Deborah D.; Radford Smith, Graham; Rahier, Jean Francois; Raychaudhur, Soumya; Regueiro, Miguel; Rieder, Florian; Roberts, Rebecca; Russell, Richard K.; Sanderson, Jeremy D.; Sans, Miquel; Satsangi, Jack; Schadt, Eric E.; Schreiber, Stefan; Schumm, L. Philip; Scott, Regan; Seielstad, Mark; Sharma, Yashoda; Silverberg, Mark S.; Simms, Lisa A.; Skieceviciene, Jurgita; Spain, Sarah L.; Steinhart, A. Hillary; Stempak, Joanne M.; Stronati, Laura; Sventoraityte, Jurgita; Targan, Stephan R.; Taylor, Kirstin M.; Ter Velde, Anje; Theatre, Emilie; Torkvist, Leif; Tremelling, Mark; Van Der Meulen, Andrea; Van Sommeren, Suzanne; Vasiliauskas, Eric; Vermeire, Severine; Verspaget, Hein W.; Walters, Thomas; Wwang, Kai; Wwang, Ming Hsi; Wweersma, Rinse K.; Wei, Zhi; Whiteman, David; Wijmenga, Cisca; Wilson, David C.; Winkelmann, Juliane; Xavier, Ramnik J.; Zeissig, Sebastian; Zhang, Bin; Zhang, Clarence K.; Zhang, Hu; Zhang, Wwei; Zhao, Hongyu; Zhao, Zhen Z.

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

2015 - NATURE GENETICS

Ottolini, Christian S.; Newnham, Louise J.; Capalbo, Antonio; Natesan, Senthilkumar A.; Joshi, Hrishikesh A.; Cimadomo, Danilo; Griffin, Darren K.; Sage, Karen; Summers, Michael C.; Thornhill, Alan R.; Housworth, Elizabeth; Herbert, Alex D.; Rienzi, Laura; Ubaldi, Filippo M.; Handyside, Alan H.; Hoffmann, Eva R.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

2015 - NATURE GENETICS

Kuchenbaecker, Karoline B; Ramus, Susan J.; Tyrer, Jonathan; Lee, Andrew; Shen, Howard C.; Beesley, Jonathan; Lawrenson, Kate; Mcguffog, Lesley; Healey, Sue; Lee, Janet M.; Spindler, Tassja J.; Lin, Yvonne G.; Pejovic, Tanja; Bean, Yukie; Li, Qiyuan; Coetzee, Simon; Hazelett, Dennis; Miron, Alexander; Southey, Melissa; Terry, Mary Beth; Goldgar, David E.; Buys, Saundra S.; Janavicius, Ramunas; Dorfling, Cecilia M.; Van Rensburg, Elizabeth J.; Neuhausen, Susan L.; Ding, Yuan Chun; Hansen, Thomas V. O.; JÃ¸nson, Lars; Gerdes, Anne Marie; Ejlertsen, Bent; Barrowdale, Daniel; Dennis, Joe; Benitez, Javier; Osorio, Ana; Garcia, Maria Jose; Komenaka, Ian; Weitzel, Jeffrey N.; Ganschow, Pamela; Peterlongo, Paolo; Bernard, Loris; Viel, Alessandra; Bonanni, Bernardo; Peissel, Bernard; Manoukian, Siranoush; Radice, Paolo; Papi, Laura; Ottini, Laura; Fostira, Florentia; Konstantopoulou, Irene; Garber, Judy; Frost, Debra; Perkins, Jo; Platte, Radka; Ellis, Steve; Godwin, Andrew K.; Schmutzler, Rita Katharina; Meindl, Alfons; Engel, Christoph; Sutter, Christian; Sinilnikova, Olga M.; Damiola, Francesca; Mazoyer, Sylvie; Stoppa Lyonnet, Dominique; Claes, Kathleen; De Leeneer, Kim; Kirk, Judy; Rodriguez, Gustavo C.; Piedmonte, Marion; O'Malley, David M.; De La Hoya, Miguel; Caldes, Trinidad; AittomÃ¤ki, Kristiina; Nevanlinna, Heli; Margriet, J. CollÃ©e; Rookus, Matti A.; Oosterwijk, Jan C.; Tihomirova, Laima; Tung, Nadine; Hamann, Ute; Isaccs, Claudine; Tischkowitz, Marc; Imyanitov, Evgeny N.; Caligo, Maria A.; Campbell, Ian G.; Hogervorst, Frans B. L.; Olah, Edith; Diez, Orland; Blanco, Ignacio; Brunet, Joan; Lazaro, Conxi; Pujana, Miquel Angel; Jakubowska, Anna; Gronwald, Jacek; Lubinski, Jan; Sukiennicki, Grzegorz; Barkardottir, Rosa B.; Plante, Marie; Simard, Jacques; Soucy, Penny; Montagna, Marco; Tognazzo, Silvia; Teixeira, Manuel R.; Pankratz, Vernon S.; Wang, Xianshu; Lindor, Noralane; Szabo, Csilla I.; Kauff, Noah; Vijai, Joseph; Aghajanian, Carol A.; Pfeiler, Georg; Berger, Andreas; Singer, Christian F.; Tea, Muy Kheng; Phelan, Catherine M.; Greene, Mark H.; Mai, Phuong L.; Rennert, Gad; Mulligan, Anna Marie; Tchatchou, Sandrine; Andrulis, Irene L.; Glendon, Gord; Toland, Amanda Ewart; Jensen, Uffe Birk; Kruse, Torben A.; Thomassen, Mads; Bojesen, Anders; Zidan, Jamal; Friedman, Eitan; Laitman, Yael; Soller, Maria; Liljegren, Annelie; Arver, Brita; Einbeigi, Zakaria; Stenmark Askmalm, Marie; Olopade, Olufunmilayo I.; Nussbaum, Robert L.; Rebbeck, Timothy R.; Nathanson, Katherine L.; Domchek, Susan M.; Lu, Karen H.; Karlan, Beth Y.; Walsh, Christine; Lester, Jenny; Hein, Alexander; Ekici, Arif B.; Beckmann, Matthias W.; Fasching, Peter A.; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Lambrechts, Sandrina; Dicks, Ed; Doherty, Jennifer A.; Wicklund, Kristine G.; Rossing, Mary Anne; Rudolph, Anja; Chang Claude, Jenny; Wang Gohrke, Shan; Eilber, Ursula; Moysich, Kirsten B.; Odunsi, Kunle; Sucheston, Lara; Lele, Shashi; Wilkens, Lynne R.; Goodman, Marc T.; Thompson, Pamela J.; Shvetsov, Yurii B.; Runnebaum, Ingo B.; DÃ¼rst, Matthias; Hillemanns, Peter; DÃ¶rk, Thilo; Antonenkova, Natalia; Bogdanova, Natalia; Leminen, Arto; Pelttari, Liisa M.; Butzow, Ralf; Modugno, Francesmary; Kelley, Joseph L.; Edwards, Robert P.; Ness, Roberta B.; Du Bois, Andreas; Heitz, Florian; Schwaab, Ira; Harter, Philipp; Matsuo, Keitaro; Hosono, Satoyo; Orsulic, Sandra; Jensen, Allan; Kjaer, Susanne Kruger; Hogdall, Estrid; Hasmad, Hanis Nazihah; Noor Azmi, Mat Adenan; Teo, Soo Hwang; Woo, Yin Ling; Fridley, Brooke L.; Goode, Ellen L.; Cunningham, Julie M.; Vierkant, Robert A.; Bruinsma, Fiona; Giles, Graham G.; Liang, Dong; Hildebrandt, Michelle A. T.; Wu, Xifeng; Levine, Douglas A.; Bisogna, Maria; Berchuck, Andrew; Iversen, Edwin S.; Schildkraut, Joellen M.; Concannon, Patrick; Weber, Rachel Palmieri; Cramer, Daniel W.; Terry, Kathryn L.; Poole, Elizabeth M.; Tworoger, Shelley S.; Bandera, Elisa V.;

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

2015 - NATURE GENETICS

Liu, Jimmy Z; van Sommeren, Suzanne; Huang, Hailiang; Ng, Siew C; Alberts, Rudi; Takahashi, Atsushi; Ripke, Stephan; Lee, James C; Jostins, Luke; Shah, Tejas; Abedian, Shifteh; Cheon, Jae Hee; Cho, Judy; Daryani, Naser E; Franke, Lude; Fuyuno, Yuta; Hart, Ailsa; Juyal, Ramesh C; Juyal, Garima; Kim, Won Ho; Morris, Andrew P; Poustchi, Hossein; Newman, William G; Midha, Vandana; Orchard, Timothy R; Vahedi, Homayon; Sood, Ajit; Sung, Joseph J. Y; Malekzadeh, Reza; Westra, Harm Jan; Yamazaki, Keiko; Yang, Suk Kyun; Barrett, Jeffrey C; Franke, Andre; Alizadeh, Behrooz Z; Parkes, Miles; B. K, Thelma; Daly, Mark J; Kubo, Michiaki; Anderson, Carl A; Weersma, Rinse K; Abedian, S; Abraham, C; Achkar, Jp; Ahmad, T; Alberts, R; Alizadeh, B; Amininejad, L; Anathakrishnan, An; Andersen, V; Anderson, Ca; Andrews, Jm; Annese, V; Aumais, G; Baidoo, L; Baldassano, Rn; Balschun, T; Bampton, Pa; Barclay, M; Barrett, Jc; Bayless, Tm; Bethge, J; Bewshea, C; Bis, Jc; Bitton, A; B. K., T; Boucher, G; Brain, O; Brand, S; Brant, Sr; BÃ¼ning, C; Cheon, Jh; Chew, A; Cho, Jh; Cleynen, I; Cohain, A; Cooney, R; Croft, A; Daly, Mj; D'Amato, M; Danese, S; Daryani, Ne; De Jong, D; de Lange, Km; De Vos, M; Denapiene, G; Denson, La; Devaney, Kl; Dewit, O; D'Inca, R; Drummond, He; Dubinsky, M; Duerr, Rh; Edwards, C; Ellinghaus, D; Esaki, M; Essers, J; Ferguson, Lr; Festen, Ea; Fleshner, P; Florin, T; Franchimont, D; Franke, A; Fransen, K; Fuyano, Y; Gearry, R; Georges, M; Gieger, C; Glas, J; Goyette, P; Green, T; Griffiths, Am; Guthery, Sl; Hakonarson, H; Halfvarson, J; Hanigan, K; Haritunians, T; Hart, A; Hawkey, C; Hayward, Nk; Hedl, M; Henderson, P; Hold, Gl; Hu, X; Huang, H; Hui, Ky; Imielinski, M; Ippoliti, A; Jazayeri, O; Jonaitis, L; Jostins, L; Juyal, G; Juyal, Rc; Kalla, R; Karlsen, Th; Kawaguchi, T; Kennedy, Na; Khan, Ma; Kim, Wh; Kitazono, T; Kiudelis, G; Kubo, M; Kugathasan, S; Kupcinskas, L; Lamb, Ca; Latiano, A; Laukens, D; Lawrance, Ic; Lee, Jc; Lees, Cw; Leja, M; Lewis, N; Van Limbergen, J; Lionetti, P; Liu, Jz; Louis, E; Luo, Y; Mahy, G; Malekzadeh, Mm; Malekzadeh, R; Mansfield, J; Marriott, S; Massey, D; Mathew, Cg; Matsui, T; McGovern, Dp; Midha, V; Milgrom, R; Mirzaei, S; Mitrovic, M; Montgomery, Gw; Motoya, S; Mowat, C; Newman, Wg; Ng, A; Ng, Sc; Ng, Sm; Nikolaus, S; Nimmo, Er; Ning, K; NÃ¶then, M; Oikonomou, I; Orchard, Tr; Palmieri, O; Parkes, M; Phillips, A; Ponsioen, Cy; Potocnik, U; Poustchi, H; Prescott, Nj; Proctor, Dd; Radford Smith, G; Rahier, Jf; Raychaudhuri, S; Regueiro, M; Rieder, F; Rioux, Jd; Ripke, S; Roberts, R; Russell, Rk; Sanderson, Jd; Sans, M; Satsangi, J; Schadt, Ee; Schreiber, S; Schumm, Lp; Scott, R; Seielstad, M; Shah, T; Sharma, Y; Silverberg, Ms; Simmons, A; Simms, La; Singh, A; Skieceviciene, J; Sood, A; Spain, Sl; Steinhart, Ah; Stempak, Jm; Stronati, Laura; Sung, Jj; Suzuki, Y; Sventoraityte, J; Takahashi, A; Takazoe, M; Tanaka, H; Taylor, Km; ter Velde, A; Theatre, E; Torkvist, L; Tremelling, M; Uhlig, Hh; Vahedi, H; van der Meulen, A; van Sommeren, S; Vasiliauskas, E; Ventham, Nt; Vermeire, S; Verspaget, Hw; Walters, T; Wang, K; Wang, Mh; Weersma, Rk; Wei, Z; Whiteman, D; Wijmenga, C; Wilson, Dc; Winkelmann, J; Xavier, Rj; Yamada, T; Yamazaki, K; Zeissig, S; Zhang, B; Zhang, Ck; Zhang, H; Zhang, W; Zhao, H; Zhao, Zz

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

2015 - NATURE GENETICS

KortÃ¼m, F; Caputo, Viviana; Bauer, Ck; Stella, L; Ciolfi, Andrea; Alawi, M; Bocchinfuso, G; Flex, Elisabetta; Dentici, MARIA LISA; Grammatico, Paola; Korenke, Gc; Leuzzi, Vincenzo; Mowat, D; Nair, Ld; Nguyen, THI THU VAN; Thierry, P; White, Sm; Dallapiccola, B; Pizzuti, Antonio; Campeau, Pm; Tartaglia, M; Kutsche, K.; Paolacci, Stefano