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Research outputs

Comprehensive genomic characterization of early-stage bladder cancer [2025]

Prip, Frederik; ...; Simić, Tatjana ; ...; (broj koautora 31)

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease [2014]

Flanagan, Sarah E; ...; Milenkovic, Tatjana; ...; (broj, koautora 23)

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome [2016]

Braun, Daniela A; ...; Bogdanovic, Radovan M; ...; (broj, koautora 27)

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach [2011]

Giardine, Belinda; Borg, Joseph; Higgs, Douglas R; Peterson, Kenneth R; Philipsen, Sjaak; Maglott, Donna; Singleton, Belinda K; Anstee, David J; Basak, A Nazli; Clark, Barnaby;

Costa, Flavia C; Faustino, Paula; Fedosyuk, Halyna; Felice, Alex E; Francina, Alain; Galanello, Renzo; Gallivan, Monica V E; Georgitsi, Marianthi; Gibbons, Richard J; Giordano, Piero C; Harteveld, Cornelis L; Hoyer, James D; Jarvis, Martin; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussos N; Papadopoulos, Petros; Pavlović, Sonja ; Perseu, Lucia; Radmilović Milena ; Riemer, Cathy; Satta, Stefania; Schrijver, Iris; Stojiljković, Maja ; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Waye, John S; Wiemann, Claudia; Zukić, Branka ; Chui, David H K; Wajcman, Henri; Hardison, Ross C; Patrinos, George P;

Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease [2008]

Monti, Jan; Fischer, Judith; Paskas, Svetlana ; Heinig, Matthias; Schulz, Herbert; Goesele, Claudia; Heuser, Arnd; Fischer, Robert; Schmidt, Cosima; Schirdewan, Alexander;

Gross, Volkmar; Hummel, Oliver; Maatz, Henrike; Patone, Giannino; Saar, Kathrin; Vingron, Martin; Weldon, Steven M.; Lindpaintner, Klaus; Hammock, Bruce D.; Rohde, Klaus; Dietz, Rainer; Cook, Stuart A.; Schunck, Wolf-Hagen; Luft, Friedrich C.; Hubner, Norbert;

A call for global action for rare diseases in Africa [2020]

Baynam, Gareth S.; Groft, Stephen; van der Westhuizen, Francois H.; Gassman, Safiyya D.; du Plessis, Kelly; Coles, Emily P.; Selebatso, Eda; Selebatso, Moses; Gaobinelwe, Boikobo; Selebatso, Tebogo;

Joel, Dipesalema; Llera, Virginia A.; Vorster, Barend C.; Wuebbels, Barbara; Djoudalbaye, Benjamin; Austin, Christopher P.; Kumuthini, Judit; Forman, John; Kaufmann, Petra; Chipeta, James; Gavhed, Desiree; Larsson, Annika; Stojiljković, Maja ; Nordgren, Ann; Roldan, Emilio J. A.; Taruscio, Domenica; Wong-Rieger, Durhane; Nowak, Kristen; Bilkey, Gemma A.; Easteal, Simon; Bowdin, Sarah; Reichardt, Juergen K. V.; Beltran, Sergi; Kosaki, Kenjiro; van Karnebeek, Clara D. M.; Gong, Mengchun; Zhang, Shuyang; Mehrian-Shai, Ruty; Adams, David R.; Puri, Ratna D.; Zhang, Feng; Pachter, Nicholas; Muenke, Maximilian; Nellaker, Christoffer; Gahl, William A.; Cederroth, Helene; Broley, Stephanie; Schoonen, Maryke; Boycott, Kym M.; Posada, Manuel;

DNA methylation cooperates with genomic alterations during non-small cell lung cancer evolution. [2025]

Gimeno-Valiente, Francisco; Castignani, Carla; Larose Cadieux, Elizabeth; Mensah, Nana E; Liu, Xiaohong; Chen, Kezhong; Chervova, Olga; Karasaki, Takahiro; Weeden, Clare E; Richard, Corentin;

Lai, Siqi; Martínez-Ruiz, Carlos; Lim, Emilia L; Frankell, Alexander M; Watkins, Thomas B K; Stavrou, Georgia; Usaite, Ieva; Lu, Wei-Ting; Marinelli, Daniele; Saghafinia, Sadegh; Wilson, Gareth A; Dhami, Pawan; Vaikkinen, Heli; Steif, Jonathan; Veeriah, Selvaraju; Hynds, Robert E; Hirst, Martin; Hiley, Crispin; Feber, Andrew; Deniz, Özgen; Jamal-Hanjani, Mariam; McGranahan, Nicholas; Beck, Stephan; Demeulemeester, Jonas; Tanić, Miljana ; Swanton, Charles; Van Loo, Peter; Kanu, Nnennaya;

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection [2018]

Pardiñas, Antonio F.; Holmans, Peter; Pocklington, Andrew J.; Escott-Price, Valentina; Ripke, Stephan; Carrera, Noa; Legge, Sophie E.; Bishop, Sophie; Cameron, Darren; Hamshere, Marian L.;

Han, Jun; Hubbard, Leon; Lynham, Amy; Mantripragada, Kiran; Rees, Elliott; MacCabe, James H.; McCarroll, Steven A.; Baune, Bernhard T.; Breen, Gerome; Byrne, Enda M.; Dannlowski, Udo; Eley, Thalia C.; Hayward, Caroline; Martin, Nicholas G.; McIntosh, Andrew M.; Plomin, Robert; Porteous, David J.; Wray, Naomi R.; Caballero, Armando; Geschwind, Daniel H.; Huckins, Laura M.; Ruderfer, Douglas M.; Santiago, Enrique; Sklar, Pamela; Stahl, Eli A.; Won, Hyejung; Agerbo, Esben; Als, Thomas D.; Andreassen, Ole A.; Bækvad-Hansen, Marie; Mortensen, Preben Bo; Pedersen, Carsten Bøcker; Børglum, Anders D.; Bybjerg-Grauholm, Jonas; Đurović, Srđan; Durmishi, Naser; Pedersen, Marianne Giørtz; Golimbet, Vera; Grove, Jakob; Hougaard, David M.; Mattheisen, Manuel; Molden, Espen; Mors, Ole; Nordentoft, Merete; Pejović-Milovančević, Milica ; Sigurdsson, Engilbert; Silagadze, Teimuraz; Hansen, Christine Søholm; Stefansson, Kari; Stefansson, Hreinn; Steinberg, Stacy; Tosato, Sarah; Werge, Thomas; Collier, David A.; Rujescu, Dan; Kirov, George; Owen, Michael J.; O’Donovan, Michael C.; Walters, James T. R.;

Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes [2016]

McKay JD; ...; Bojesen SE; Le Marchand L; Field, JK; Lazarus, P; Haugen, A; Lam, S; Schabath, MB; Andrew, AS;

Shen, H; Hong, YC; Yuan, JM; Bertazzi, PA; Pesatori, AC; Ye, Y; Diao, N.; Su, L.; Zhang, R.; Brhane, Y.; Leighl, N.; Johansen, JS; Mellemgaard, A.; Saliba, W.; Haiman, CA; Wilkens, LR; Fernandez-Somoano, A.; Fernandez-Tardon, G.; van der Heijden, HFM; Kim, JH; Dai, J.; Hu, Z.; Davies, MPA; Marcus, MW; Brunnström, H; Manjer, J; Melander, O; Muller, DC; Overvad, K; Trichopoulou, A; Tumino, R; Doherty, JA; Barnett, MP; Chen, C.; Goodman, GE; Cox, A.; Taylor, F.; Woll, P.; Brüske, I.; Wichmann, HE; Manz, J.; Muley, TR; Risch, A.; Rosenberger, A.; Grankvist, K.; Johansson, M.; Shepherd, FA; Tsao, MS; Arnold, SM; Bolca, C.; Holcatova, I.; Janout, V.; Kontić, Milica ; Lissowska, J.; Mukeria, A.; Ognjanović, Simona ; Orlowski, TM; Scelo, G.; ...; (broj koautora 140);

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice [2013]

Keller, Annika; Westenberger, Ana; Sobrido, Maria J; García-Murias, Maria; Domingo, Aloysius; Sears, Renee L; Lemos, Roberta R; Ordoñez-Ugalde, Andres; Nicolas, Gael; da, Cunha José E Gomes;

Rushing, Elisabeth J; Hugelshofer, Michael; Wurnig, Moritz C; Kaech, Andres; Reimann, Regina; Lohmann, Katja; Dobričić, Valerija; Carracedo, Angel; Petrović, Igor ; Miyasaki, Janis M; Abakumova, Irina; Mäe, Maarja Andaloussi; Raschperger, Elisabeth; Zatz, Mayana; Zschiedrich, Katja; Klepper, Jörg; Spiteri, Elizabeth; Prieto, Jose M; Navas, Inmaculada; Preuss, Michael; Dering, Carmen; Janković, Milena; Paucar, Martin; Svenningsson, Per; Saliminejad, Kioomars; Khorshid, Hamid R K; Novaković, Ivana; Aguzzi, Adriano; Boss, Andreas; Le, Ber Isabelle; Defer, Gilles; Hannequin, Didier; Kostić, Vladimir ; Campion, Dominique; Geschwind, Daniel H; Coppola, Giovanni; Betsholtz, Christer; Klein, Christine; Oliveira, Joao R M;