Pretraga

Rezultati

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;

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia [2012]

Zimoń, Magdalena; Baets, Jonathan; Almeida-Souza, Leonardo; De, Vriendt Els; Nikodinovic, Jelena; Parman, Yesim; Battaloǧlu, Esra; Matur, Zeliha; Guergueltcheva, Velina; Tournev, Ivailo;

Auer-Grumbach, Michaela; De, Rijk Peter; Petersen, Britt-Sabina; Müller, Thomas; Fransen, Erik; Van, Damme Philip; Löscher, Wolfgang N; Barišić, Nina; Mitrovic, Zoran; Previtali, Stefano C; Topaloǧlu, Haluk; Bernert, Günther; Beleza-Meireles, Ana; Todorovic, Slobodanka; Savić Pavićević, Dušanka ; Ishpekova, Boryana; Lechner, Silvia; Peeters, Kristien; Ooms, Tinne; Hahn, Angelika F; Züchner, Stephan; Timmerman, Vincent; Van, Dijck Patrick; Milić Rašić, Vedrana ; Janecke, Andreas R; De, Jonghe Peter; Jordanova, Albena;

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021) [2022]

van, Rheenen Wouter; ...; Stevic, Zorica D; ...; (broj, koautora 281)

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;

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia [2002]

Boerkoel, Cornelius F; Takashima, H; John, J; Yan, J; Stankiewicz, P; Rosenbarker, L; Andre, Jean-Luc; Bogdanovic, Radovan M; Burguet, A; Cockfield, Sandra;

Cordeiro, Isabel; Frund, S; Illies, F; Joseph, MW; Kaitila, I; Lama, Guiliana; Loirat, Chantal; McLeod, DR; Milford, David V; Petty, EM; Rodrigo, F; Saraiva, Jorge M; Schmidt, Beate; Smith, Graham C; Spranger, J; Stein, Anja; Thiele, H; Tizard, Jane; Weksberg, R; Lupski, JR; Stockton, DW;

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology [2021]

Van, Rheenen Wouter; ...; Stevic, Zorica D; ...; (broj, koautora 281)

Deletion of Crhr2 reveals an anxiolytic role for corticotropin-releasing hormone receptor-2 [2000]

Kishimoto, Toshimitsu; Radulovic, Jelena ; Radulovic, Marko ; Lin, Chijen R.; Schrick, Christina; Hooshmand, Farideh; Hermanson, Ola; Rosenfeld, Michael G.; Spiess, Joachim

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

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

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.;

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies [2015]

Bulik-Sullivan, Brendan K; Loh, Po-Ru; Finucane, Hilary K; Ripke, Stephan; Yang, Jian; Patterson, Nick; Daly, Mark J; Price, Alkes L; Neale, Benjamin M