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Research outputs

Identification of a new disease gene causing Lafora progressive myoclonus epilepsy.   [2003]

Chan, EM; Young, EJ; Ianzano, L; Munteanu-Oprea, I; Zhao, XC; Christopoulos, CC; Avanzini, G; Elia, M; Ackerley, CA; Jovic, Nebojsa J;
Bohlega, S; Andermann, E; Rouleau, GA; Delgado-Escueta, AV; Minassian, BA; Scherer, SW;

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects   [2018]

Loges, Niki T; ...; Cuturilo, Goran; ...; (broj, koautora 27)

Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language   [2000]

Rosser, Z.; Zerjal, T.; Hurles, M.; Adojaan, M.; Alavantić, Dragan  ; Amorim, A.; Amos, W.; Armenteros, M.; Arroyo, E.; Barbujani, G.;
Beckman, G.; Beckman, L.; Bertranpetit, J.; Bosch, E.; Bradley, D.; Brede, G.; Cooper, G.; Corte-Real, H.; de Knijff, P.; Decorte, R.; Dubrova, Y.; Evgrafov, O.; Gilissen, A.; Glišić, Sanja  ; Golge, M.; Hill, E.; Jeziorowska, A.; Kalaydjieva, L.; Kayser, M.; Kivisild, T.; Kravchenko, S.; Krumina, A.; Kucinskas, V.; Lavinha, J.; Livshits, L.; Malaspina, P.; Maria, S.; McElreavey, K.; Meitinger, T.; Mikelsaar, A.; Mitchell, R.; Nafa, K.; Nicholson, J.; Norby, S.; Pandya, A.; Parik, J.; Patsalis, P.; Pereira, L.; Peterlin, B.; Pielberg, G.; Prata, M.; Previdere, C.; Roewer, L.; Rootsi, S.; Rubinsztein, D.; Saillard, J.; Santos, F.; Stefanescu, G.; Sykes, B.; Tolun, A.; Villems, R.; Tyler-Smith, C.; Jobling, M.;

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores   [2015]

Vilhjálmsson, Bjarni J.; ...; Pejović-Milovančević, Milica  ; ...; Švrakić, Dragan M. ; ...; (broj koautora 386)

Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2   [2014]

Cottenie, Ellen; Kochanski, Andrzej; Jordanova, Albena; Bansagi, Boglarka; Zimon, Magdalena; Horga, Alejandro; Jaunmuktane, Zane; Saveri, Paola; Milić-Rašić, Vedrana  ; Baets, Jonathan;
Bartsakoulia, Marina; Ploski, Rafal; Teterycz, Pawel; Nikolić, Miloš  ; Quinlivan, Ros; Laura, Matilde; Sweeney, Mary G.; Taroni, Franco; Lunn, Michael P.; Moroni, Isabella; Gonzalez, Michael; Hanna, Michael G.; Bettencourt, Conceicao; Chabrol, Elodie; Franke, Andre; von Au, Katja; Schilhabel, Markus; Kabzińska, Dagmara; Hausmanowa-Petrusewicz, Irena; Brandner, Sebastian; Lim, Siew Choo; Song, Haiwei; Choi, Byung-Ok; Horvath, Rita; Chung, Ki-Wha; Zuchner, Stephan; Pareyson, Davide; Harms, Matthew; Reilly, Mary M.; Houlden, Henry;

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa   [2010]

Langmann, Thomas; Di, Gioia Silvio Alessandro; Rau, Isabella; Stöhr, Heidi; Maksimović, Nela  ; Corbo, Joseph C.; Renner, Agnes B.; Zrenner, Eberhart; Kumaramanickavel, Govindasamy; Karlstetter, Marcus;
Arsenijevic, Yvan; Weber, Bernhard H.F.; Gal, Andreas; Rivolta, Carlo;

Evidence that paternal expression of the epsilon-Sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia   [2002]

Muller, B; Hedrich, Katja; Kock, Norman; Dragasevic, Natasa T; Svetel, Marina V ; Garrels, J; Landt, O; Nitschke, M; Pramstaller, Peter P; Reik, W;
Schwinger, E; Sperner, J; Ozelius, LJ; Kostic, Vladimir S; Klein, Christine;

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome   [2019]

Capri, Yline; Flex, Elisabetta; Krumbach, Oliver H.F.; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei, Adariani Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette;
Pantaleoni, Francesca; Lepri, Francesca R.; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C.; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Čuturilo, Goran  ; Kazemein, Jasemi Neda S.; Dvorsky, Radovan; Monaghan, Kristin G.; Vincent, Lisa M.; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin;

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability   [2016]

Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka;
Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo Graovac, Maja ; van Karnebeek, Clara D.M.; Lupski, James R.; Ren, Dejian; Yoon, Grace;

Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q   [2002]

Kock, Norman; Culjkovic, Biljana; Maniak, S; Schilling, Klaus; Muller, B; Zuhlke, C; Ozelius, L; Klein, Christine; Pramstaller, Peter P; Kramer, PL

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