Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis
Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis
Published in Epilepsia (Copenhagen) (01.01.2021)
Published in Epilepsia (Copenhagen) (01.01.2021)
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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Abou-Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J., Bast, Thomas, Baum, Larry, Becker, Albert J., Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Buono, Russell J., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cavalleri, Gianpiero L., Cherny, Stacey S., Chinthapalli, Krishna, Coffey, Alison J., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Dlugos, Dennis J., Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A., Freytag, Saskia, Gaus, Verena, Geller, Eric B., Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gui, Hongsheng, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas-Khoda, Jennifer, Johnson, Michael R., Kälviäinen, Reetta, Kantanen, Anne-Mari, Kasperavičiūte, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lal, Dennis, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Møller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping-Wing, Nöthen, Markus M., Nürnberg, Peter, O’Brien, Terence J., Oliver, Karen L.
Published in Nature communications (10.12.2018)
Published in Nature communications (10.12.2018)
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The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
López-Rivera, Javier A, Leu, Costin, Macnee, Marie, Khoury, Jean, Hoffmann, Lucas, Coras, Roland, Kobow, Katja, Bhattarai, Nisha, Pérez-Palma, Eduardo, Hamer, Hajo, Brandner, Sebastian, Rössler, Karl, Bien, Christian G, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Butler, Elizabeth, Genovese, Giulio, Becker, Kerstin, Altmüller, Janine, Niestroj, Lisa-Marie, Ferguson, Lisa, Busch, Robyn M, Nürnberg, Peter, Najm, Imad, Blümcke, Ingmar, Lal, Dennis
Published in Brain (London, England : 1878) (19.04.2023)
Published in Brain (London, England : 1878) (19.04.2023)
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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva, Macnee, Marie, Brünger, Tobias, Thomas, Rhys H., Talkowski, Michael, Helbig, Ingo, Leu, Costin, Lal, Dennis
Published in Nature communications (20.07.2023)
Published in Nature communications (20.07.2023)
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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.
Published in Brain (London, England : 1878) (01.10.2013)
Published in Brain (London, England : 1878) (01.10.2013)
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Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures
Leu, Costin, Bautista, Jocelyn F., Sudarsanam, Monica, Niestroj, Lisa-Marie, Stefanski, Arthur, Ferguson, Lisa, Daly, Mark J., Jehi, Lara, Najm, Imad M., Busch, Robyn M., Lal, Dennis
Published in Scientific reports (16.09.2020)
Published in Scientific reports (16.09.2020)
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Pleiotropy of polygenic factors associated with focal and generalized epilepsy in the general population
Leu, Costin, Richardson, Tom G, Kaufmann, Tobias, van der Meer, Dennis, Andreassen, Ole A, Westlye, Lars T, Busch, Robyn M, Davey Smith, George, Lal, Dennis
Published in PloS one (28.04.2020)
Published in PloS one (28.04.2020)
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The role of common genetic variation in presumed monogenic epilepsies
Campbell, Ciarán, Leu, Costin, Feng, Yen-Chen Anne, Wolking, Stefan, Moreau, Claudia, Ellis, Colin, Ganesan, Shiva, Martins, Helena, Oliver, Karen, Boothman, Isabelle, Benson, Katherine, Molloy, Anne, Brody, Lawrence, Michaud, Jacques L., Hamdan, Fadi F., Minassian, Berge A., Lerche, Holger, Scheffer, Ingrid E., Sisodiya, Sanjay, Girard, Simon, Cosette, Patrick, Delanty, Norman, Lal, Dennis, Cavalleri, Gianpiero L.
Published in EBioMedicine (01.07.2022)
Published in EBioMedicine (01.07.2022)
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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 IIb
Honke, 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, Rössler, Karl, Dörfler, Arnd, Rampp, Stefan, Lemke, Johannes R, Baldassari, Sara, Baulac, Stéphanie, Lal, Dennis, Nürnberg, Peter, Blümcke, Ingmar
Published in Acta neuropathologica communications (09.11.2023)
Published in Acta neuropathologica communications (09.11.2023)
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P354: Automated reanalysis of clinical genetic test results: High variant reclassification rate
Huth, Emily, Montanucci, Ludovica, Bruenger, Tobias, Leu, Costin, Taylor, Gary, Coelho da Silva, Emile Moura, Mancera, Oscar, Kolawole, Omolara, Wright, Matthew, Lhatoo, Samden, Von Allmen, Gretchen, Lal, Dennis
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery
Oliver, Karen L., Ellis, Colin A., Scheffer, Ingrid E., Ganesan, Shiva, Leu, Costin, Sadleir, Lynette G., Heinzen, Erin L., Mefford, Heather C., Bass, Andrew J., Curtis, Sarah W., Harris, Rebekah V., Whiteman, David C., Helbig, Ingo, Ottman, Ruth, Epstein, Michael P., Bahlo, Melanie, Berkovic, Samuel F.
Published in EBioMedicine (01.07.2022)
Published in EBioMedicine (01.07.2022)
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P153: Characterizing the spectrum of CACNA1A-related disorders
Coelho da Silva, Emile Moura, Ivaniuk, Alina, Huth, Emily, Leu, Costin, Mancera, Oscar, Kolawole, Omolara, Wright, Matthew, Butler, Ian, Filipek, Pauline, Lankford, Jeremy, Watkins, Michael, Knight, Elia Pestana, Lhatoo, Samden, Von Allmen, Gretchen, Lal, Dennis
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Incidence and prevalence of major epilepsy-associated brain lesions
López-Rivera, Javier A., Smuk, Victoria, Leu, Costin, Nasr, Gaelle, Vegh, Deborah, Stefanski, Arthur, Pérez-Palma, Eduardo, Busch, Robyn, Jehi, Lara, Najm, Imad, Blümcke, Ingmar, Lal, Dennis
Published in Epilepsy & behavior reports (01.01.2022)
Published in Epilepsy & behavior reports (01.01.2022)
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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy
Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.
Published in EBioMedicine (01.09.2015)
Published in EBioMedicine (01.09.2015)
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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
Leu, Costin, de Kovel, Carolien G.F., Zara, Federico, Striano, Pasquale, Pezzella, Marianna, Robbiano, Angela, Bianchi, Amedeo, Bisulli, Francesca, Coppola, Antonietta, Giallonardo, Anna Teresa, Beccaria, Francesca, Trenité, Dorothée Kasteleijn-Nolst, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Kleefuß-Lie, Ailing A., Hallman, Kerstin, Kunz, Wolfram S., Elger, Christian E., Muhle, Hiltrud, Stephani, Ulrich, Møller, Rikke S., Hjalgrim, Helle, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Serratosa, Jose M., Rosenow, Felix, Feucht, Martha, Unterberger, Iris, Covanis, Athanasios, Suls, Arvid, Weckhuysen, Sarah, Kaneva, Radka, Caglayan, Hande, Turkdogan, Dilsad, Baykan, Betul, Bebek, Nerses, Ozbek, Ugur, Hempelmann, Anne, Schulz, Herbert, Rüschendorf, Franz, Trucks, Holger, Nürnberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P.C., Sander, Thomas
Published in Epilepsia (Copenhagen) (01.02.2012)
Published in Epilepsia (Copenhagen) (01.02.2012)
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Analysis of shared heritability in common disorders of the brain
Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K, Walters, Raymond K, Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J, Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A, Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H, Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-François, Duron, Emmanuelle, Vardarajan, Badri N, Reitz, Christiane, Goate, Alison M, Huentelman, Matthew J, Kamboh, M Ilyas, Larson, Eric B, Rogaeva, Ekaterina, St George-Hyslop, Peter, Hakonarson, Hakon, Kukull, Walter A, Farrer, Lindsay A, Barnes, Lisa L, Beach, Thomas G, Demirci, F Yesim, Head, Elizabeth, Hulette, Christine M, Jicha, Gregory A, Kauwe, John S K, Kaye, Jeffrey A, Leverenz, James B, Levey, Allan I, Lieberman, Andrew P, Pankratz, Vernon S, Poon, Wayne W, Quinn, Joseph F, Saykin, Andrew J, Schneider, Lon S, Smith, Amanda G, Sonnen, Joshua A, Stern, Robert A, Van Deerlin, Vivianna M, Van Eldik, Linda J, Harold, Denise, Russo, Giancarlo, Rubinsztein, David C, Bayer, Anthony, Tsolaki, Magda, Proitsi, Petra, Fox, Nick C, Hampel, Harald, Owen, Michael J, Mead, Simon, Passmore, Peter, Morgan, Kevin, Nöthen, Markus M, Rossor, Martin, Lupton, Michelle K, Hoffmann, Per, Kornhuber, Johannes, Lawlor, Brian, McQuillin, Andrew, Al-Chalabi, Ammar, Bis, Joshua C, Ruiz, Agustin, Boada, Mercè, Seshadri, Sudha, Beiser, Alexa, Rice, Kenneth, van der Lee, Sven J, De Jager, Philip L, Geschwind, Daniel H, Riemenschneider, Matthias, Riedel-Heller, Steffi, Rotter, Jerome I, Ransmayr, Gerhard, Hyman, Bradley T, Cruchaga, Carlos, Alegret, Montserrat, Winsvold, Bendik, Palta, Priit, Farh, Kai-How, Cuenca-Leon, Ester, Furlotte, Nicholas, Kurth, Tobias
Published in Science (American Association for the Advancement of Science) (22.06.2018)
Published in Science (American Association for the Advancement of Science) (22.06.2018)
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