Not logged inAnalysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR
Bosselmann, Christian M.; Leu, Costin; Bruenger, Tobias; Hoffmann, Lucas; Baldassari, Sara; Chipaux, Mathilde; Coras, Roland; Kobow, Katja; Hamer, Hajo; Delev, Daniel; Roessler, Karl; Bien, Christian G.; Kalbhenn, Thilo; Pieper, Tom; Hartlieb, Till; Becker, Kerstin; Ferguson, Lisa; Busch, Robyn M.; Baulac, Stephanie; Nuernberg, Peter; Najm, Imad; Bluemcke, Ingmar; Lal, Dennis .png)
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SavePolygenic risk scores for nicotine use and family history of smoking are associated with smoking behaviourFoo, Jerome C.; Voelker, Maja P.; Streit, Fabian; Frank, Josef; Zacharias, Norman; Zillich, Lea; Sirignano, Lea; Nuernberg, Peter; Wienker, Thomas F.; Wagner, Michael; Noethen, Markus M.; Nothnagel, Michael; Walter, Henrik; Lenz, Bernd; Spanagel, Rainer; Kiefer, Falk; Winterer, Georg; Rietschel, Marcella; Witt, Stephanie H. Share Save Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaAsif, Maria; Khayyat, Arwa Ishaq A.; Alawbathani, Salem; Abdullah, Uzma; Sanner, Anne; Georgomanolis, Theodoros; Haasters, Judith; Becker, Kerstin; Budde, Birgit; Becker, Christian; Thiele, Holger; Baig, Shahid M.; Isidoro-Garcia, Maria; Winter, Dominic; Pogoda, Hans -Martin; Muhammad, Sajjad; Hammerschmidt, Matthias; Kraft, Florian; Kurth, Ingo; Martin, Hilario Gomez; Wagner, Matias; Nuernberg, Peter; Hussain, Muhammad Sajid Share Save Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile EpilepsyKoko, Mahmoud; Elseed, Maha A.; Mohammed, Inaam N.; Hamed, Ahlam A.; Abd Allah, Amal S. I.; Yahia, Ashraf; Siddig, Rayan A.; Altmueller, Janine; Toliat, Mohammad Reza; Elmahdi, Esra O.; Amin, Mutaz; Ahmed, Elhami A.; Eltazi, Isra Z. M.; Elmugadam, Fatima A.; Abdelgadir, Wasma A.; Eltaraifee, Esraa; Ibrahim, Mohamed O. M.; Ali, Nabila M. H.; Malik, Hiba M.; Babai, Arwa M.; Bakhit, Yousuf H.; Nuernberg, Peter; Ibrahim, Muntaser E.; Salih, Mustafa A.; Schubert, Julian; Elsayed, Liena E. O.; Lerche, Holger Share Save Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumorsAbdel-Salam, Ghada M. H.; Hellmuth, Susanne; Gradhand, Elise; Kaeseberg, Stephan; Winter, Jennifer; Pabst, Ann-Sophie; Eid, Maha M.; Thiele, Holger; Nuernberg, Peter; Budde, Birgit S.; Toliat, Mohammad Reza; Brecht, Ines B.; Schroeder, Christopher; Gschwind, Axel; Ossowski, Stephan; Haeuser, Friederike; Rossmann, Heidi; Abdel-Hamid, Mohamed S.; Hegazy, Ibrahim; Mohamed, Ahmed G.; Schneider, Dominik T.; Bertoli-Avella, Aida; Bauer, Peter; Pearring, Jillian N.; Pfundt, Rolph; Hoischen, Alexander; Gilissen, Christian; Strand, Dennis; Zechner, Ulrich; Tashkandi, Soha A.; Faqeih, Eissa A.; Stemmann, Olaf; Strand, Susanne; Bolz, Hanno J. Share Save Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIbHonke, Jonas; Hoffmann, Lucas; Coras, Roland; Kobow, Katja; Leu, Costin; Pieper, Tom; Hartlieb, Till; Bien, Christian G.; Woermann, Friedrich; Cloppenborg, Thomas; Kalbhenn, Thilo; Gaballa, Ahmed; Hamer, Hajo; Brandner, Sebastian; Roessler, Karl; Doerfler, Arnd; Rampp, Stefan; Lemke, Johannes R.; Baldassari, Sara; Baulac, Stephanie; Lal, Dennis; Nuernberg, Peter; Bluemcke, Ingmar Share Save ASSOCIATIONS OF SMOKING BEHAVIOR WITH POLYGENIC RISK SCORES FOR NICOTINE USE AND PARENTAL FAMILY HISTORY OF SMOKINGVoelker, Maja; Foo, Jerome C.; Streit, Fabian; Zillich, Lea; Sirignano, Lea; Nuernberg, Peter; Wienker, Thomas; Wagner, Michael; Noethen, Markus; Nothnagel, Michael; Walter, Henrik; Kiefer, Falk; Winterer, Georg; Rietschel, Marcella; Witt, Stephanie Share Save GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architectureStevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar Share Save The interleukin-11 receptor variant p.W307R results in craniosynostosis in humansAhmad, Ilyas; Lokau, Juliane; Kespohl, Birte; Malik, Naveed Altaf; Baig, Shahid Mahmood; Hartig, Roland; Behme, Daniel; Schwab, Roland; Altmueller, Janine; Jameel, Muhammad; Mucha, Soeren; Thiele, Holger; Tariq, Muhammad; Nuernberg, Peter; Erdmann, Jeanette; Garbers, Christoph Share Save The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continuedSchroeder, Simone; Yigit, Goekhan; Li, Yun; Altmueller, Janine; Buettel, Hans-Martin; Fiedler, Barbara; Kretzschmar, Christoph; Nuernberg, Peter; Seeger, Juergen; Serpieri, Valentina; Valente, Enza Maria; Wollnik, Bernd; Boltshauser, Eugen; Brockmann, Knut Share Save Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes (vol 145, pg 815, 2023)Hoffmann, Lucas; Coras, Roland; Kobow, Katja; Lopez-Rivera, Javier A. A.; Lal, Dennis; Leu, Costin; Najm, Imad; Nuernberg, Peter; Herms, Jochen; Harter, Patrick N. N.; Bien, Christian G. G.; Kalbhenn, Thilo; Mueller, Markus; Pieper, Tom; Hartlieb, Till; Kudernatsch, Manfred; Hamer, Hajo; Brandner, Sebastian; Roessler, Karl; Bluemcke, Ingmar; Jabari, Samir Share Save CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesisNuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra; Bauwens, Miriam; Rey, Alfredo Duenas; Kaeseberg, Stephan; Jaeger, Melanie; Willer, Jason R.; Winter, Jennifer; Truong, Hanh M.; Gruartmoner, Nuria; Van Heetvelde, Mattias; Wolf, Joachim; Merget, Robert; Grasshoff-Derr, Sabine; Van Dorpe, Jo; Hoorens, Anne; Stoehr, Heidi; Mansard, Luke; Roux, Anne-Francoise; Langmann, Thomas; Dannhausen, Katharina; Rosenkranz, David; Wissing, Karl M.; Van Lint, Michel; Rossmann, Heidi; Haeuser, Friederike; Nuernberg, Peter; Thiele, Holger; Zechner, Ulrich; Pearring, Jillian N.; De Baere, Elfride; Bolz, Hanno J. Share Save Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genesHoffmann, Lucas; Coras, Roland; Kobow, Katja; Lopez-Rivera, Javier A.; Lal, Dennis; Leu, Costin; Najm, Imad; Nuernberg, Peter; Herms, Jochen; Harter, Patrick N.; Bien, Christian G.; Kalbhenn, Thilo; Mueller, Markus; Pieper, Tom; Hartlieb, Till; Kudernatsch, Manfred; Hamer, Hajo; Brandner, Sebastian; Roessler, Karl; Bluemcke, Ingmar; Jabari, Samir Share Save Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephalySchnabel, Franziska; Schuler, Elisabeth; Al-Maawali, Almundher; Chaurasia, Ankur; Syrbe, Steffen; Al-Kindi, Adila; Bhavani, Gandham SriLakshmi; Shukla, Anju; Altmueller, Janine; Nuernberg, Peter; Banka, Siddharth; Girisha, Katta M.; Li, Yun; Wollnik, Bernd; Yigit, Goekhan Share Save Genomic ALK alterations in primary and relapsed neuroblastomaRosswog, Carolina; Fassunke, Jana; Ernst, Angela; Schoemig-Markiefka, Birgid; Merkelbach-Bruse, Sabine; Bartenhagen, Christoph; Cartolano, Maria; Ackermann, Sandra; Theissen, Jessica; Blattner-Johnson, Mirjam; Jones, Barbara; Schramm, Kathrin; Altmueller, Janine; Nuernberg, Peter; Ortmann, Monika; Berthold, Frank; Peifer, Martin; Buettner, Reinhard; Westermann, Frank; Schulte, Johannes H.; Simon, Thorsten; Hero, Barbara; Fischer, Matthias Share Save Share Save The genomic landscape across 474 surgically accessible epileptogenic human brain lesionsLopez-Rivera, Javier A.; Leu, Costin; Macnee, Marie; Khoury, Jean; Hoffmann, Lucas; Coras, Roland; Kobow, Katja; Bhattarai, Nisha; Perez-Palma, Eduardo; Hamer, Hajo; Brandner, Sebastian; Roessler, Karl; Bien, Christian G.; Kalbhenn, Thilo; Pieper, Tom; Hartlieb, Till; Butler, Elizabeth; Genovese, Giulio; Becker, Kerstin; Altmueller, Janine; Niestroj, Lisa-Marie; Ferguson, Lisa; Busch, Robyn M.; Nuernberg, Peter; Najm, Imad; Bluemcke, Ingmar; Lal, Dennis Share Save Reliable assessment of telomere maintenance mechanisms in neuroblastomaMeeser, Alina; Bartenhagen, Christoph; Werr, Lisa; Hellmann, Anna-Maria; Kahlert, Yvonne; Hemstedt, Nadine; Nuernberg, Peter; Altmueller, Janine; Ackermann, Sandra; Hero, Barbara; Simon, Thorsten; Peifer, Martin; Fischer, Matthias; Rosswog, Carolina Share Save WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyBoegershausen, Nina; Krawczyk, Hannah E.; Jamra, Rami A.; Lin, Sheng-Jia; Yigit, Goekhan; Huening, Irina; Polo, Anna M.; Vona, Barbara; Huang, Kevin; Schmidt, Julia; Altmueller, Janine; Luppe, Johannes; Platzer, Konrad; Doergeloh, Beate B.; Busche, Andreas; Biskup, Saskia; Mendes, Marisa, I; Smith, Desiree E. C.; Salomons, Gajja S.; Zibat, Arne; Bueltmann, Eva; Nuernberg, Peter; Spielmann, Malte; Lemke, Johannes R.; Li, Yun; Zenker, Martin; Varshney, Gaurav K.; Hillen, Hauke S.; Kratz, Christian P.; Wollnik, Bernd Share Save De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayAsif, Maria; Kaygusuz, Emrah; Shinawi, Marwan; Nickelsen, Anna; Hsieh, Tzung-Chien; Wagle, Prerana; Budde, Birgit S.; Hochscherf, Jennifer; Abdullah, Uzma; Honing, Stefan; Nienberg, Christian; Lindenblatt, Dirk; Noegel, Angelika A.; Altmuller, Janine; Thiele, Holger; Motameny, Susanne; Fleischer, Nicole; Segal, Idan; Pais, Lynn; Tinschert, Sigrid; Samra, Nadra Nasser; Savatt, Juliann M.; Rudy, Natasha L.; De Luca, Chiara; Fortugno, Paola; White, Susan M.; Krawitz, Peter; Hurst, Anna C. E.; Niefind, Karsten; Jose, Joachim; Brancati, Francesco; Nurnberg, Peter; Hussain, Muhammad Sajid Share Save 
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