BALESTRINI, SIMONA
BALESTRINI, SIMONA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
An interconnected data infrastructure to support large-scale rare disease research
2024-01-01 Johansson, Lennart; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; De Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan Farid, Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; Van De Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; Van Der Velde, K Joeri; Veal, Colin; Van Der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Serg; Swertz Morris, A; Brookes, Anthony; Riess, Olaf; Haack, Tobias; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich Julia, M; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Kellner, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 'T Hoen, Peter; Vissers Lisenka, Elm; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; De Voer Richarda, M; Kamsteeg, Erik-Jan; Van De Warrenburg, Bart; Van Os, Nienke; Te Paske, Iris; Janssen, Erik; De Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes Anthony, J; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan Farid, Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo Chiara, Marini; Manera Jordi, Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut Ivo, Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo', Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou Rabah, Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková Radka, Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali', Elisa; Magrinelli, Francesca; Sisodiya Sanjay, M; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; De Vries, Geert; De Winter, Jonathan; Beijer, Danique; De Jonghe, Peter; Van De Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer Anna, Katharina; Peters, Sophia; Oliveira, Carla; Garcia-Pelaez, Jose; Barbosa-Matos, Rita; José Celina, São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz Morris, A; Johansson, Lennart; Van Der Velde Joeri, K; Van Der Vries, Gerben; Neerincx Pieter, B; Ruvolo, David; Abbott Kristin, M; Frederikse Wilhemina, S Kerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; Van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; De Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De La Paz Manuel, Posada; Sánchez Eva, Bermejo; Martín Estrella, López; Delgado Beatriz, Martínez; De La Rosa, F Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio Francesca, Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar Maria, Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava Clara, Franco; Masó Laura, Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio Andrés, Nascimento; De Benito Daniel, Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery Patrick, F; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Başak Ayşe, Nazlı; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, ; Gijs, W E; Bijlsma, ; Emilia, K; Hoffer, ; Mariette, J V; Ruivenkamp, ; Claudia, A L; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabell; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
2024-01-01 Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; De Boer, Elke; Schuermans, Nika; Van De Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; De Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; Null, Null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 'T Hoen, Peter A. C.; Steyaert, Wouter; De Voer, Richarda; Kamsteeg, Erik-Jan; Van De Warrenburg, Bart; Van Os, Nienke; Paske, Iris Te; Janssen, Erik; De Boer, Elke; Steehouwer, Marloes; Neveling, Kornelia; Van Der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; De Vries, Geert; De Winter, Jonathan; De Jonghe, Peter; Van De Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Van Der Velde, Joeri K.; Van Der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; Van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; De Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García De La Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia De Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; De Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De La Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; Van Der Veken, Lars; Van Heurck, Roxane; Van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
2024-01-01 Null, Null; Chen, Siwei; Abou-Khalil, Bassel W.; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Anderson, Joe; Andrade, Danielle M.; Annesi, Grazia; Arslan, Mutluay; Auce, Pauls; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Banks, Eric; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bass, Nick; Baum, Larry W.; Baumgartner, Tobias H.; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blackwood, Douglas; Blatt, Ilan; Borggräfe, Ingo; Bosselmann, Christian; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J.; Busch, Robyn M.; Caglayan, S. Hande; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S.; Cheung, Ching-Lung; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O.; Cole, Andrew J.; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; Jonghe, Peter De; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Vito, Lidia Di; Dickerson, Faith; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Ellis, Colin A.; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N.; Silva, Izabela Ferreira Da; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C.; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A.; Freri, Elena; Fu, Jack M.; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A.; Goldberg, Ethan; Goldman, Alica; Goldstein, David B.; Granata, Tiziana; Grant, Riley; Greenberg, David A.; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Häusler, Martin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R.; Johnstone, Mandy; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M.; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D.; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurlemann, Gerhard; Kuzniecky, Ruben I.; Kwan, Patrick; Vega-Talbott, Maite La; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H.; Lowther, Chelsea; Lubbers, Laura; Lui, Colin H. T.; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G.; Matthews, Abigail G.; May, Patrick; Mayer, Thomas; Mcardle, Wendy; Mccarroll, Steven M.; Mcgoldrick, Patricia; Mcgraw, Christopher M.; Mcintosh, Andrew; Mcquillan, Andrew; Meador, Kimford J.; Mei, Davide; Michel, Véronique; Millichap, John J.; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neaves, Samuel; Neubauer, Bernd A.; Newton, Charles R. J. C.; Noebels, Jeffrey L.; Northstone, Kate; Novod, Sam; O'Brien, Terence J.; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B.; Petrovski, Slavé; Pickrell, William O.; Pinsky, Rebecca; Pinto, Dalila; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H. W.; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R.; Rees, Mark I.; Regan, Brigid M.; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M.; Riva, Antonella; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Schachter, Steven; Schaller, André; Schankin, Christoph J.; Scheffer, Ingrid E.; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Sham, Pak C.; Shiedley, Beth R.; Siena, S. Anthony; Sills, Graeme J.; Sisodiya, Sanjay M.; Smoller, Jordan W.; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R.; Sperling, Michael R.; Stamberger, Hannah; Steinhoff, Bernhard J.; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E.; Taneja, Randip S.; Tanteles, George A.; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; Van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; Von Brauchitsch, Sophie; Von Spiczak, Sarah; Wagner, Ryan G.; Watts, Nick; Weber, Yvonne G.; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M.; Wolff, Markus; Wolking, Stefan; Wong, Isaac; Von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M.; Berkovic, Samuel F.
Genome-wide association meta-analyses of drug-resistant epilepsy
2025-01-01 Leu, Costin; Avbersek, Andreja; Stevelink, Remi; Custodio, Helena Martins; Chen, Siwei; Speed, Doug; Bennett, Caitlin A.; Jonsson, Lina; Unnsteinsdóttir, Unnur; Jorgensen, Andrea L.; Cavalleri, Gianpiero L.; Delanty, Norman; Craig, John J.; Depondt, Chantal; Johnson, Michael R.; Koeleman, Bobby P. C.; Hassanin, Emadeldin; Omidvar, Maryam Erfanian; Krause, Roland; Lerche, Holger; Marson, Anthony G.; O'Brien, Terence J.; Sander, Josemir W.; Sills, Graeme J.; Striano, Pasquale; Zara, Federico; Stefansson, Hreinn; Stefansson, Kari; May, Patrick; Neale, Benjamin M.; Lal, Dennis; Berkovic, Samuel F.; Amadori, Elisabetta; Andrade, Danielle M.; Annesi, Grazia; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Baumgartner, Tobias H.; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A.; Berkovic, Samuel F.; Beydoun, Ahmad; Bisulli, Francesca; Borggräfe, Ingo; Bosselmann, Christian; Busch, Robyn M.; Canafoglia, Laura; Castellotti, Barbara; Chou, I-Jun; Chung, Seo-Kyung; Cotsapas, Chris; Devinsky, Orrin; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; Ellis, Colin A.; El-Naggar, Hany; Evans, Meghan; Ferraro, Thomas N.; Fitzgerald, Mark; Fortunato, Francesco; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Goldman, Alica; Granata, Tiziana; Gupta, Namrata; Haas, Kevin; Hirose, Shinichi; Hoeper, Olivia; Hung, Po-Chen; Johnson, Michael R.; Khoueiry-Zgheib, Nathalie; Khoury, Jean; Klein, Karl Martin; Knake, Susanne; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Kunz, Wolfram S.; Kuzniecky, Ruben I.; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Lauxmann, Stephan; Lawthom, Charlotte; Lerche, Holger; Leu, Costin; Lewis-Smith, David; Liao, Calwing; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magri, Stefania; Maillard, Louis; Manna, Lorella; Marques, Paula; Mayer, Thomas; Mcgraw, Christopher M.; Meador, Kimford J.; Mei, Davide; Minardi, Raffaella; Mostacci, Barbara; Muccioli, Lorenzo; Müller-Schlüter, Karen; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd A.; Papacostas, Savvas S.; Parrini, Elena; Pendziwiat, Manuela; Petrovski, Slavé; Pickrell, William O.; Powell, Robert H. W.; Ragona, Francesca; Rees, Mark I.; Rheims, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Sammarra, Ilaria; Scala, Marcello; Scheffer, Ingrid E.; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Shiedley, Beth R.; Sisodiya, Sanjay M.; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Taneja, Randip S.; Tanteles, George A.; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Valton, Luc; Van Baalen, Andreas; Vetro, Annalisa; Von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolking, Stefan; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Zahnert, Felix; Zara, Federico; Zizovic, Milena; Zsurka, Gábor; Ali, Quratulain Zulfiqar; Auce, Pauls; Avbersek, Andreja; Balling, Rudi; Becker, Felicitas; Berghuis, Bianca; Borghei, Mojgansadat; Brodie, Martin J.; Campbell, Ellen; Cavalleri, Gianpiero L.; Chinthapalli, Krishna; Coppola, Antonietta; Craig, John; Delanty, Norman; Demurtas, Rita; Depondt, Chantal; Francis, Ben; Gambardella, Antonio; Gudmundsson, Lárus J.; Heggeli, Kristin; Hengsbach, Christian; Hutton, Jane L.; Ingason, Andrés; Johnson, Michael R.; Jorgensen, Andrea; Klein, Karl M.; Koeleman, Bobby P. C.; Krause, Roland; Krenn, Martin; Kunz, Wolfram S.; Langley, Sarah R.; Lerche, Holger; Leu, Costin; Marson, Anthony G.; Mccormack, Mark; Møller, Rikke S.; Morris, Andrew; Muhle, Hiltrud; Nikanorova, Marina; O'Brien, Terence J.; Petrovski, Slave; Rau, Sarah; Rener-Primec, Zvonka; Sander, Josemir W.; Sargsyan, Narek; Schneider, Reinhard; Sills, Graeme J.; Sisodiya, Sanjay M.; Speed, Doug; Srivastava, Prashant K.; Stefansson, Hreinn; Stefánsson, Kári; Striano, Pasquale; Todaro, Marian; Weber, Yvonne G.; Weckhuysen, Sarah; Willis, Joseph; Wolking, Stefan; Zara, Federico; Zimprich, Fritz; Sisodiya, Sanjay M.
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
2025-01-01 Mei, Davide; Balestrini, Simona; Parrini, Elena; Gambardella, Antonio; Annesi, Grazia; De Giorgis, Valentina; Gana, Simone; Teresa Bassi, Maria; Zucca, Claudio; Elia, Maurizio; Vetri, Luigi; Castellotti, Barbara; Ragona, Francesca; Mastrangelo, Mario; Pisani, Francesco; D'Orsi, Giuseppe; Carella, Massimo; Pruna, Dario; Giglio, Sabrina; Marini, Carla; Cesaroni, Elisabetta; Riva, Antonella; Scala, Marcello; Licchetta, Laura; Minardi, Raffaella; Contaldo, Ilaria; Luigia Gambardella, Maria; Cossu, Alberto; Proietti, Jacopo; Cantalupo, Gaetano; Collaborative Group, Lice; Trivisano, Marina; De Dominicis, Angela; Specchio, Nicola; Tassi, Laura; Guerrini, Renzo
SUDEP risk is influenced by longevity genomics: a polygenic risk score study
2025-01-01 Martins, Helena; Mills, James D.; Pagni, Susanna; Gulcebi, Medine I.; Vakrinou, Angeliki; Moloney, Patrick B.; Clayton, Lisa M.; Bellampalli, Ravishankara; Stamberger, Hannah; Weckhuysen, Sarah; Striano, Pasquale; Zara, Federico; Bagnall, Richard D.; Harris, Rebekah V.; Lawrence, Kate M.; Sadleir, Lynette G.; Crompton, Douglas E.; Friedman, Daniel; Laze, Juliana; Li, Ling; Berkovic, Samuel F.; Semsarian, Christopher; Scheffer, Ingrid E.; Devinsky, Orrin; Kuchenbaecker, Karoline; Balestrini, Simona; Sisodiya, Sanjay M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| An interconnected data infrastructure to support large-scale rare disease research | 1-gen-2024 | Johansson, Lennart; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; De Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan Farid, Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; Van De Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; Van Der Velde, K Joeri; Veal, Colin; Van Der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Serg; Swertz Morris, A; Brookes, Anthony; Riess, Olaf; Haack, Tobias; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich Julia, M; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Kellner, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 'T Hoen, Peter; Vissers Lisenka, Elm; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; De Voer Richarda, M; Kamsteeg, Erik-Jan; Van De Warrenburg, Bart; Van Os, Nienke; Te Paske, Iris; Janssen, Erik; De Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes Anthony, J; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan Farid, Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo Chiara, Marini; Manera Jordi, Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut Ivo, Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo', Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou Rabah, Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková Radka, Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali', Elisa; Magrinelli, Francesca; Sisodiya Sanjay, M; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; De Vries, Geert; De Winter, Jonathan; Beijer, Danique; De Jonghe, Peter; Van De Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer Anna, Katharina; Peters, Sophia; Oliveira, Carla; Garcia-Pelaez, Jose; Barbosa-Matos, Rita; José Celina, São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz Morris, A; Johansson, Lennart; Van Der Velde Joeri, K; Van Der Vries, Gerben; Neerincx Pieter, B; Ruvolo, David; Abbott Kristin, M; Frederikse Wilhemina, S Kerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; Van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; De Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De La Paz Manuel, Posada; Sánchez Eva, Bermejo; Martín Estrella, López; Delgado Beatriz, Martínez; De La Rosa, F Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio Francesca, Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar Maria, Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava Clara, Franco; Masó Laura, Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio Andrés, Nascimento; De Benito Daniel, Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery Patrick, F; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Başak Ayşe, Nazlı; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, ; Gijs, W E; Bijlsma, ; Emilia, K; Hoffer, ; Mariette, J V; Ruivenkamp, ; Claudia, A L; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabell; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick | |
| Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | 1-gen-2024 | Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; De Boer, Elke; Schuermans, Nika; Van De Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; De Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; Null, Null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 'T Hoen, Peter A. C.; Steyaert, Wouter; De Voer, Richarda; Kamsteeg, Erik-Jan; Van De Warrenburg, Bart; Van Os, Nienke; Paske, Iris Te; Janssen, Erik; De Boer, Elke; Steehouwer, Marloes; Neveling, Kornelia; Van Der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; De Vries, Geert; De Winter, Jonathan; De Jonghe, Peter; Van De Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Van Der Velde, Joeri K.; Van Der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; Van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; De Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García De La Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia De Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; De Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De La Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; Van Der Veken, Lars; Van Heurck, Roxane; Van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven | |
| Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes | 1-gen-2024 | Null, Null; Chen, Siwei; Abou-Khalil, Bassel W.; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Anderson, Joe; Andrade, Danielle M.; Annesi, Grazia; Arslan, Mutluay; Auce, Pauls; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Banks, Eric; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bass, Nick; Baum, Larry W.; Baumgartner, Tobias H.; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blackwood, Douglas; Blatt, Ilan; Borggräfe, Ingo; Bosselmann, Christian; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J.; Busch, Robyn M.; Caglayan, S. Hande; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S.; Cheung, Ching-Lung; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O.; Cole, Andrew J.; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; Jonghe, Peter De; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Vito, Lidia Di; Dickerson, Faith; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Ellis, Colin A.; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N.; Silva, Izabela Ferreira Da; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C.; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A.; Freri, Elena; Fu, Jack M.; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A.; Goldberg, Ethan; Goldman, Alica; Goldstein, David B.; Granata, Tiziana; Grant, Riley; Greenberg, David A.; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Häusler, Martin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R.; Johnstone, Mandy; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M.; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D.; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurlemann, Gerhard; Kuzniecky, Ruben I.; Kwan, Patrick; Vega-Talbott, Maite La; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H.; Lowther, Chelsea; Lubbers, Laura; Lui, Colin H. T.; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G.; Matthews, Abigail G.; May, Patrick; Mayer, Thomas; Mcardle, Wendy; Mccarroll, Steven M.; Mcgoldrick, Patricia; Mcgraw, Christopher M.; Mcintosh, Andrew; Mcquillan, Andrew; Meador, Kimford J.; Mei, Davide; Michel, Véronique; Millichap, John J.; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neaves, Samuel; Neubauer, Bernd A.; Newton, Charles R. J. C.; Noebels, Jeffrey L.; Northstone, Kate; Novod, Sam; O'Brien, Terence J.; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B.; Petrovski, Slavé; Pickrell, William O.; Pinsky, Rebecca; Pinto, Dalila; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H. W.; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R.; Rees, Mark I.; Regan, Brigid M.; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M.; Riva, Antonella; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Schachter, Steven; Schaller, André; Schankin, Christoph J.; Scheffer, Ingrid E.; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Sham, Pak C.; Shiedley, Beth R.; Siena, S. Anthony; Sills, Graeme J.; Sisodiya, Sanjay M.; Smoller, Jordan W.; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R.; Sperling, Michael R.; Stamberger, Hannah; Steinhoff, Bernhard J.; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E.; Taneja, Randip S.; Tanteles, George A.; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; Van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; Von Brauchitsch, Sophie; Von Spiczak, Sarah; Wagner, Ryan G.; Watts, Nick; Weber, Yvonne G.; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M.; Wolff, Markus; Wolking, Stefan; Wong, Isaac; Von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M.; Berkovic, Samuel F. | |
| Genome-wide association meta-analyses of drug-resistant epilepsy | 1-gen-2025 | Leu, Costin; Avbersek, Andreja; Stevelink, Remi; Custodio, Helena Martins; Chen, Siwei; Speed, Doug; Bennett, Caitlin A.; Jonsson, Lina; Unnsteinsdóttir, Unnur; Jorgensen, Andrea L.; Cavalleri, Gianpiero L.; Delanty, Norman; Craig, John J.; Depondt, Chantal; Johnson, Michael R.; Koeleman, Bobby P. C.; Hassanin, Emadeldin; Omidvar, Maryam Erfanian; Krause, Roland; Lerche, Holger; Marson, Anthony G.; O'Brien, Terence J.; Sander, Josemir W.; Sills, Graeme J.; Striano, Pasquale; Zara, Federico; Stefansson, Hreinn; Stefansson, Kari; May, Patrick; Neale, Benjamin M.; Lal, Dennis; Berkovic, Samuel F.; Amadori, Elisabetta; Andrade, Danielle M.; Annesi, Grazia; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Baumgartner, Tobias H.; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A.; Berkovic, Samuel F.; Beydoun, Ahmad; Bisulli, Francesca; Borggräfe, Ingo; Bosselmann, Christian; Busch, Robyn M.; Canafoglia, Laura; Castellotti, Barbara; Chou, I-Jun; Chung, Seo-Kyung; Cotsapas, Chris; Devinsky, Orrin; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; Ellis, Colin A.; El-Naggar, Hany; Evans, Meghan; Ferraro, Thomas N.; Fitzgerald, Mark; Fortunato, Francesco; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Goldman, Alica; Granata, Tiziana; Gupta, Namrata; Haas, Kevin; Hirose, Shinichi; Hoeper, Olivia; Hung, Po-Chen; Johnson, Michael R.; Khoueiry-Zgheib, Nathalie; Khoury, Jean; Klein, Karl Martin; Knake, Susanne; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Kunz, Wolfram S.; Kuzniecky, Ruben I.; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Lauxmann, Stephan; Lawthom, Charlotte; Lerche, Holger; Leu, Costin; Lewis-Smith, David; Liao, Calwing; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magri, Stefania; Maillard, Louis; Manna, Lorella; Marques, Paula; Mayer, Thomas; Mcgraw, Christopher M.; Meador, Kimford J.; Mei, Davide; Minardi, Raffaella; Mostacci, Barbara; Muccioli, Lorenzo; Müller-Schlüter, Karen; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd A.; Papacostas, Savvas S.; Parrini, Elena; Pendziwiat, Manuela; Petrovski, Slavé; Pickrell, William O.; Powell, Robert H. W.; Ragona, Francesca; Rees, Mark I.; Rheims, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Sadleir, Lynette G.; Salman, Barış; Salmon, Andrea; Sammarra, Ilaria; Scala, Marcello; Scheffer, Ingrid E.; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Shiedley, Beth R.; Sisodiya, Sanjay M.; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Taneja, Randip S.; Tanteles, George A.; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Valton, Luc; Van Baalen, Andreas; Vetro, Annalisa; Von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolking, Stefan; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Zahnert, Felix; Zara, Federico; Zizovic, Milena; Zsurka, Gábor; Ali, Quratulain Zulfiqar; Auce, Pauls; Avbersek, Andreja; Balling, Rudi; Becker, Felicitas; Berghuis, Bianca; Borghei, Mojgansadat; Brodie, Martin J.; Campbell, Ellen; Cavalleri, Gianpiero L.; Chinthapalli, Krishna; Coppola, Antonietta; Craig, John; Delanty, Norman; Demurtas, Rita; Depondt, Chantal; Francis, Ben; Gambardella, Antonio; Gudmundsson, Lárus J.; Heggeli, Kristin; Hengsbach, Christian; Hutton, Jane L.; Ingason, Andrés; Johnson, Michael R.; Jorgensen, Andrea; Klein, Karl M.; Koeleman, Bobby P. C.; Krause, Roland; Krenn, Martin; Kunz, Wolfram S.; Langley, Sarah R.; Lerche, Holger; Leu, Costin; Marson, Anthony G.; Mccormack, Mark; Møller, Rikke S.; Morris, Andrew; Muhle, Hiltrud; Nikanorova, Marina; O'Brien, Terence J.; Petrovski, Slave; Rau, Sarah; Rener-Primec, Zvonka; Sander, Josemir W.; Sargsyan, Narek; Schneider, Reinhard; Sills, Graeme J.; Sisodiya, Sanjay M.; Speed, Doug; Srivastava, Prashant K.; Stefansson, Hreinn; Stefánsson, Kári; Striano, Pasquale; Todaro, Marian; Weber, Yvonne G.; Weckhuysen, Sarah; Willis, Joseph; Wolking, Stefan; Zara, Federico; Zimprich, Fritz; Sisodiya, Sanjay M. | |
| National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy | 1-gen-2025 | Mei, Davide; Balestrini, Simona; Parrini, Elena; Gambardella, Antonio; Annesi, Grazia; De Giorgis, Valentina; Gana, Simone; Teresa Bassi, Maria; Zucca, Claudio; Elia, Maurizio; Vetri, Luigi; Castellotti, Barbara; Ragona, Francesca; Mastrangelo, Mario; Pisani, Francesco; D'Orsi, Giuseppe; Carella, Massimo; Pruna, Dario; Giglio, Sabrina; Marini, Carla; Cesaroni, Elisabetta; Riva, Antonella; Scala, Marcello; Licchetta, Laura; Minardi, Raffaella; Contaldo, Ilaria; Luigia Gambardella, Maria; Cossu, Alberto; Proietti, Jacopo; Cantalupo, Gaetano; Collaborative Group, Lice; Trivisano, Marina; De Dominicis, Angela; Specchio, Nicola; Tassi, Laura; Guerrini, Renzo | |
| SUDEP risk is influenced by longevity genomics: a polygenic risk score study | 1-gen-2025 | Martins, Helena; Mills, James D.; Pagni, Susanna; Gulcebi, Medine I.; Vakrinou, Angeliki; Moloney, Patrick B.; Clayton, Lisa M.; Bellampalli, Ravishankara; Stamberger, Hannah; Weckhuysen, Sarah; Striano, Pasquale; Zara, Federico; Bagnall, Richard D.; Harris, Rebekah V.; Lawrence, Kate M.; Sadleir, Lynette G.; Crompton, Douglas E.; Friedman, Daniel; Laze, Juliana; Li, Ling; Berkovic, Samuel F.; Semsarian, Christopher; Scheffer, Ingrid E.; Devinsky, Orrin; Kuchenbaecker, Karoline; Balestrini, Simona; Sisodiya, Sanjay M. |