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Zeitschriftenartikel
O’Neill, Adam C. 
ORCID: https://orcid.org/0000-0002-0392-4001; Uzbas, Fatma ORCID: https://orcid.org/0000-0002-2523-7026; Antognolli, Giulia ORCID: https://orcid.org/0000-0001-8014-7771; Merino, Florencia ORCID: https://orcid.org/0000-0001-7247-2750; Draganova, Kalina ORCID: https://orcid.org/0000-0002-0287-0937; Jäck, Alex ORCID: https://orcid.org/0000-0001-5653-7737; Zhang, Sirui ORCID: https://orcid.org/0000-0002-1992-3345; Pedini, Giorgia; Schessner, Julia P. ORCID: https://orcid.org/0000-0003-3361-9830; Cramer, Kimberly; Schepers, Aloys; Metzger, Fabian; Esgleas, Miriam; Smialowski, Pawel ORCID: https://orcid.org/0000-0002-1020-3341; Guerrini, Renzo ORCID: https://orcid.org/0000-0002-7272-7079; Falk, Sven ORCID: https://orcid.org/0000-0003-4194-9274; Feederle, Regina ORCID: https://orcid.org/0000-0002-3981-367X; Freytag, Saskia; Wang, Zefeng ORCID: https://orcid.org/0000-0002-6605-3637; Bahlo, Melanie ORCID: https://orcid.org/0000-0001-5132-0774; Jungmann, Ralf ORCID: https://orcid.org/0000-0003-4607-3312; Bagni, Claudia ORCID: https://orcid.org/0000-0002-4419-210X; Borner, Georg H. H. ORCID: https://orcid.org/0000-0002-3166-3435; Robertson, Stephen P. ORCID: https://orcid.org/0000-0002-5181-7809; Hauck, Stefanie M. ORCID: https://orcid.org/0000-0002-1630-6827 und Götz, Magdalena ORCID: https://orcid.org/0000-0003-1551-9203
(2022):
Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.
In: Science, Bd. 376, 6599
ORCID: https://orcid.org/0000-0002-0392-4001; Uzbas, Fatma ORCID: https://orcid.org/0000-0002-2523-7026; Antognolli, Giulia ORCID: https://orcid.org/0000-0001-8014-7771; Merino, Florencia ORCID: https://orcid.org/0000-0001-7247-2750; Draganova, Kalina ORCID: https://orcid.org/0000-0002-0287-0937; Jäck, Alex ORCID: https://orcid.org/0000-0001-5653-7737; Zhang, Sirui ORCID: https://orcid.org/0000-0002-1992-3345; Pedini, Giorgia; Schessner, Julia P. ORCID: https://orcid.org/0000-0003-3361-9830; Cramer, Kimberly; Schepers, Aloys; Metzger, Fabian; Esgleas, Miriam; Smialowski, Pawel ORCID: https://orcid.org/0000-0002-1020-3341; Guerrini, Renzo ORCID: https://orcid.org/0000-0002-7272-7079; Falk, Sven ORCID: https://orcid.org/0000-0003-4194-9274; Feederle, Regina ORCID: https://orcid.org/0000-0002-3981-367X; Freytag, Saskia; Wang, Zefeng ORCID: https://orcid.org/0000-0002-6605-3637; Bahlo, Melanie ORCID: https://orcid.org/0000-0001-5132-0774; Jungmann, Ralf ORCID: https://orcid.org/0000-0003-4607-3312; Bagni, Claudia ORCID: https://orcid.org/0000-0002-4419-210X; Borner, Georg H. H. ORCID: https://orcid.org/0000-0002-3166-3435; Robertson, Stephen P. ORCID: https://orcid.org/0000-0002-5181-7809; Hauck, Stefanie M. ORCID: https://orcid.org/0000-0002-1630-6827 und Götz, Magdalena ORCID: https://orcid.org/0000-0003-1551-9203
(2022):
Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.
In: Science, Bd. 376, 6599
Marcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin, Chao; Hull, Brooke; Pei-Tseng, Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu, Huang; Longley, Colleen M.; Hsiao-Tua0n, Chao; Hyung-lok, Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; Dooren, Marieke F. van; Wilke, MartinaSlegtenhorst; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F. und Yamamoto, Shinya
(2022):
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
In: Cell Reports, Bd. 38, Nr. 11, 110517
Johannesen, Katrine M.; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E.; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D.; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A.; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes R.; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P. Y. Billie; Rho, Jong M.; Ho, Alice W.; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E.; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; Braakman, Hilde M. H.; Zwaag, Bert van der; Harder, Aster V. E.; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Ngoc, Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M. Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M.; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger und Moller, Rikke S.
(2022):
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
In: Brain, Bd. 145, Nr. 9: S. 2991-3009
Balestrini, Simona; Chiarello, Daniela; Gogou, Maria; Silvennoinen, Katri; Puvirajasinghe, Clinda; Jones, Wendy D.; Reif, Philipp; Klein, Karl Martin; Rosenow, Felix; Weber, Yvonne G.; Lerche, Holger; Schubert-Bast, Susanne; Borggraefe, Ingo; Coppola, Antonietta; Troisi, Serena; Moller, Rikke S.; Riva, Antonella; Striano, Pasquale; Zara, Federico; Hemingway, Cheryl; Marini, Carla; Rosati, Anna; Mei, Davide; Montomoli, Martino; Guerrini, Renzo; Cross, J. Helen und Sisodiya, Sanjay M.
(2021):
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 92, Nr. 10: S. 1044-1052
Kyrousi, Christina; O'Neill, Adam C.; Brazovskaja, Agnieska; He, Zhisong; Kielkowski, Pavel; Coquand, Laure; Di Giaimo, Rossella; D' Andrea, Pierpaolo; Belka, Alexander; Echeverry, Andrea Forero; Mei, Davide; Lenge, Matteo; Cruceanu, Cristiana; Buchsbaum, Isabel Y.; Khattak, Shahryar; Fabien, Guimiot; Binder, Elisabeth; Elmslie, Frances; Guerrini, Renzo; Baffet, Alexandre D.; Sieber, Stephan A.; Treutlein, Barbara; Robertson, Stephen P. und Cappello, Silvia
(2021):
Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity.
In: Nature Communications, Bd. 12, Nr. 1, 6298
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Disteimaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V.; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane
(2020):
Monogenic variants in dystonia: an exome-wide sequencing study.
In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918
Schulz, Herbert; Ruppert, Ann-Kathrin; Zara, Federico; Madia, Francesca; Iacomino, Michele; Vari, Maria S.; Balagura, Ganna; Minetti, Carlo; Striano, Pasquale; Blanche, Amedeo; Marini, Carla; Guerrini, Renzo; Weber, Yvonne G.; Becker, Felicitas; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J.; Kunz, Wolfram S.; Moller, Rikke S.; Oliver, Karen L.; Bellows, Susannah T.; Mullen, Saul A.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Caglayan, Hande; Ozbek, Ugur; Hoffmann, Per; Schramm, Sara; Tsortouktzidis, Despina; Becker, Albert J. und Sander, Thomas
(2019):
No evidence for a BRD2 promoter hypermethylation inblood leukocytes of Europeans with juvenile myoclonic epilepsy.
In: Epilepsia, Bd. 60, Nr. 5, E31-E36
Zagaglia, Sara; Selch, Christina; Nisevic, Jelena Radic; Mei, Davide; Michalak, Zuzanna; Hernandez-Hernandez, Laura; Krithika, S.; Vezyroglou, Katharina; Varadkar, Sophia M.; Pepler, Alexander; Biskup, Saskia; Leao, Miguel; Gärtner, Jutta; Merkenschlager, Andreas; Jaksch, Michaela; Moller, Rikke S.; Gardella, Elena; Schlott Kristiansen, Britta; Kjaersgaard Hansen, Lars; Vari, Maria Stella; Helbig, Katherine L.; Desai, Sonal; Smith-Hicks, Constance L.; Hino-Fukuyo, Naomi; Talvik, Tiina; Laugesaar, Rael; Ilves, Pilvi; Ounap, Katrin; Körber, Ingrid; Hartlieb, Till; Kudernatsch, Manfred; Winkler, Peter; Schimmel, Mareike; Hasse, Anette; Knuf, Markus; Heinemeyer, Jan; Makowski, Christine; Ghedia, Sondhya; Subramanian, Gopinath M.; Striano, Pasquale; Thomas, Rhys H.; Micallef, Caroline; Thom, Maria; Werring, David J.; Kluger, Gerhard Josef; Cross, J. Helen; Guerrini, Renzo; Balestrini, Simona und Sisodiya, Sanjay M.
(2018):
Neurologic phenotypes associated with COL4A1/2 mutations Expanding the spectrum of disease.
In: Neurology, Bd. 91, Nr. 22, E2078-E2088
[PDF, 1MB]
O'Neill, Adam C.; Kyrousi, Christina; Klaus, Johannes; Leventer, Richard J.; Kirk, Edwin P.; Fry, Andrew; Pilz, Daniela T.; Morgan, Tim; Jenkins, Zandra A.; Drukker, Micha; Berkovic, Samuel F.; Scheffer, Ingrid E.; Guerrini, Renzo; Markie, David M.; Götz, Magdalena; Cappello, Silvia und Robertson, Stephen P.
(2018):
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
In: Cell Reports, Bd. 25, Nr. 10: S. 2729-2741
[PDF, 6MB]
Møller, Rikke S.; Wuttke, Thomas V.; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M.; Brilstra, Eva H.; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L.; Lesca, Gaetan; Bellescize, Julitta de; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nils; Jacobs, Julia; Swinkels, Marielle; Betzler, Cornelia; Syrbe, Steffen; Nikanorova, Marina; Myers, Candace T.; Larsen, Line H. G.; Vejzovic, Sabina; Pendziwiat, Manuela; Spiczak, Sarah von; Hopkins, Sarah; Dubbs, Holly; Mang, Yuan; Mukhin, Konstantin; Holthausen, Hans; Gassen, Koen L. van; Dahl, Hans A.; Tommerup, Niels; Mefford, Heather C.; Rubboli, Guido; Guerrini, Renzo; Lemke, Johannes R.; Lerche, Holger; Muhle, Hiltrud und Maljevic, Snezana
(2017):
Mutations in GABRB3. From febrile seizures to epileptic encephalopathies.
In: Neurology, Bd. 88, Nr. 5: S. 483-492
[PDF, 805kB]
Johannesen, Katrine; Marini, Carla; Pfeffer, Siona; Møller, Rikke S.; Dorn, Thomas; Niturad, Christina; Gardella, Elena; Weber, Yvonne; Søndergård, Marianne; Hjalgrim, Helle; Nikanorova, Mariana; Becker, Felicitas; Larsen, Line H. G.; Dahl, Hans A.; Maier, Oliver; Mei, Davide; Biskup, Saskia; Klein, Karl M.; Reif, Philipp S.; Rosenow, Felix; Elias, Abdallah F.; Hudson, Cindy; Helbig, Katherine L.; Schubert-Bast, Susanne; Scordo, Maria R.; Craiu, Dana; Djémié, Tania; Hoffman-Zacharska, Dorota; Caglayan, Hande; Helbig, Ingo; Serratosa, Jose; Striano, Pasquale; Jonghe, Peter de; Weckhuysen, Sarah; Suls, Arvid; Muru, Kai; Talvik, Inga; Talvik, Tiina; Muhle, Hiltrud; Borggraefe, Ingo; Rost, Imma; Guerrini, Renzo; Lerche, Holger; Lemke, Johannes R.; Rubboli, Guido und Maljevic, Snezana
(2016):
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
In: Neurology, Bd. 87, Nr. 11: S. 1140-1151