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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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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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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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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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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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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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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SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities
Macnee, Marie, Pérez-Palma, Eduardo, Schumacher-Bass, Sarah, Dalton, Jarrod, Leu, Costin, Blankenberg, Daniel, Lal, Dennis
Published in Bioinformatics (Oxford, England) (18.11.2021)
Published in Bioinformatics (Oxford, England) (18.11.2021)
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Identification and quantification of oligogenic loss-of-function disorders
Stefanski, Arthur, Pérez-Palma, Eduardo, Mrdjen, Marko, McHugh, Megan, Leu, Costin, Lal, Dennis
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Sønderby, Ida E, Doan, Nhat Trung, Hibar, Derrek P, Martin-Brevet, Sandra, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Armstrong, Nicola J, Blangero, John, Boomsma, Dorret I, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Calhoun, Vince, Caspers, Svenja, Corvin, Aiden, Crespo-Facorro, Benedicto, Dazzan, Paola, de Geus, Eco J C, Delanty, Norman, Desrivières, Sylvane, Draganski, Bogdan, Ehrlich, Stefan, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Groenewold, Nynke A., Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hillegers, Manon H. J., Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Jernigan, Terry, Jockwitz, Christiane, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kelly, Sinead, Kolskår, Knut K, Kwok, John B, Hellard, Stephanie Le, Leu, Costin, Lundervold, Astri J, Lundervold, Arvid, Martin, Nicholas G., Mather, Karen, Mathias, Samuel R., McCormack, Mark, McMahon, Katie L., McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Murray, Robin, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Pausova, Zdenka, Penninx, Brenda, Prieto, Carlos, Pudas, Sara, Quinlan, Erin, Marques, Tiago Reis, Reymond, Alexandre, Richard, Genevieve, Rodriguez-Herreros, Borja, Roiz-Santiañez, Roberto, Rokicki, Jarek, Sachdev, Perminder, Schmaal, Lianne, Schofield, Peter R, Schumann, Gunter, Steen, Vidar M, Stein, Dan J, Strike, Lachlan, Teumer, Alexander, Thalamuthu, Anbu, Turner, Jessica, Ulfarsson, Magnus O., van ’t Ent, Dennis, van der Meer, Dennis, Vassos, Evangelos, Walters, G. Bragi, Wang, Yunpeng, Wen, Wei, Whelan, Christopher D, Wittfeld, Katharina, Wright, Margie, Yamamori, Hidenaga, Agartz, Ingrid, Westlye, Lars T, Jacquemont, Sébastien, Djurovic, Srdjan, Thompson, Paul, Andreassen, Ole A.
Published in Molecular psychiatry (01.03.2020)
Published in Molecular psychiatry (01.03.2020)
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Schmitz, Bettina, Zimprich, Fritz, Nothnagel, Michael, de Haan, Gerrit-Jan, Mefford, Heather C, Weber, Yvonne, Hjalgrim, Helle, Rosenow, Felix, Baker, Carl, Franke, Andre, Wittig, Michael, Steinich, Ines, Lerche, Holger, Eichler, Evan E, Urak, Lydia, Kleefuß-Lie, Ailing A, Romano, Corrado, de Kovel, Carolien, Fichera, Marco, Gaus, Verena, Sharp, Andrew J, Schreiber, Stefan, Malafosse, Alain, Helbig, Ingo, Thomas, Pierre, Muhle, Hiltrud, Klein, Karl M, Genton, Pierre, Guipponi, Michel, Fuchs, Karoline, Sander, Thomas, Visscher, Frank, Elger, Christian E, Koeleman, Bobby P C, Møller, Rikke S, Nürnberg, Peter, Kron, Katherine L, Leu, Costin, Feucht, Martha, Reif, Philipp S, Stephani, Ulrich, Lindhout, Dick, von Spiczak, Sarah, Luciano, Daniela
Published in Nature genetics (01.02.2009)
Published in Nature genetics (01.02.2009)
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Beyond the Global Brain Differences: Intra-individual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers
Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Facorro, Benedicto Crespo, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Forstner, Andreas J., Uyà, Lidia Fortaner, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C., Goltermann, Janik, Grabe, Hans J., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Henskens, Frans A., Holmes, Avram J., Håberg, Asta K., Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jönsson, Erik G., Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E., Liu, Jingyu, Loughnan, Robert, Mather, Karen A., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meinert, Susanne, Moreau, Clara A., Morris, Derek W., Mowry, Bryan J., Mühleisen, Thomas W., Nenadić, Igor, Nöthen, Markus M., Nyberg, Lars, Owen, Michael J., Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S., Sando, Sigrid B., Schall, Ulrich, Scott, Rodney J., Selbæk, Geir, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Stein, Frederike, Stein, Dan J., Straube, Benjamin, Streit, Fabian, Strike, Lachlan T., Teumer, Alexander, Teutenberg, Lea, Thalamuthu, Anbupalam, Tooney, Paul A, Tordesillas-Gutierrez, Diana
Published in Biological psychiatry (1969) (01.09.2023)
Published in Biological psychiatry (1969) (01.09.2023)
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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
STEFFEN, Michael Steffen, LEU, Costin, LA NEVE, Angela, CRICHIUTTI, Giovanni, DE KOVEL, Carolien G. F, TRENITE, Dorothée Kasteleijn-Nolst, DE HAAN, Gerrit-Jan, LINDHOUT, Dick, GAUS, Verena, SCHMITZ, Bettina, JANZ, Dieter, WEBER, Yvonne G, RUPPERT, Ann-Kathrin, BECKER, Felicitas, LERCHE, Holger, STEINHOFF, Bernhard J, KLEEFUSS-LIE, Ailing A, KUNZ, Wolfram S, SURGES, Rainer, ELGER, Christian E, MUHLE, Hiltrud, VON SPICZAK, Sarah, OSTERTAG, Philipp, ZARA, Federico, HELBIG, Ingo, STEPHANI, Ulrich, MØLLER, Rikke S, HJALGRIM, Helle, DIBBENS, Leanne M, BELLOWS, Susannah, OLIVER, Karen, MULLEN, Saul, SCHEFFER, Ingrid E, BERKOVIC, Samuel F, STRIANO, Pasquale, EVERETT, Kate V, GARDINER, Mark R, MARINI, Carla, GUERRINI, Renzo, LEHESJOKI, Anna-Elina, SIREN, Auli, ROBBIANO, Angela, CAPOVILLA, Giuseppe, TINUPER, Paolo, GAMBARDELLA, Antonio, BIANCHI, Amedeo
Published in Human molecular genetics (15.12.2012)
Published in Human molecular genetics (15.12.2012)
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Assessment of genetic variant burden in epilepsy-associated brain lesions
Niestroj, Lisa-Marie, May, Patrick, Artomov, Mykyta, Kobow, Katja, Coras, Roland, Pérez-Palma, Eduardo, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Leu, Costin, Palotie, Aarno, Daly, Mark J, Klein, Karl Martin, Beschorner, Rudi, Weber, Yvonne G, Blümcke, Ingmar, Lal, Dennis
Published in European journal of human genetics : EJHG (01.11.2019)
Published in European journal of human genetics : EJHG (01.11.2019)
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Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers
Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J, Artiges, Eric, Atkins, Joshua R, Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I, Brodaty, Henry, Brosch, Katharina, Buckner, Randy L, Cairns, Murray J, Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P, Crespo-Facorro, Benedicto, Dannlowski, Udo, David, Friederike S, de Geus, Eco J C, de Zubicaray, Greig I, Desrivières, Sylvane, Doherty, Joanne L, Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E, Forstner, Andreas J, Fortaner-Uyà, Lidia, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C, Goltermann, Janik, Grabe, Hans J, Green, Melissa J, Groenewold, Nynke A, Grotegerd, Dominik, Grøntvedt, Gøril Rolfseng, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Henskens, Frans A, Holmes, Avram J, Håberg, Asta K, Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jönsson, Erik G, Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E, Liu, Jingyu, Loughnan, Robert, Mather, Karen A, McMahon, Katie L, McRae, Allan F, Medland, Sarah E, Meinert, Susanne, Moreau, Clara A, Morris, Derek W, Mowry, Bryan J, Mühleisen, Thomas W, Nenadić, Igor, Nöthen, Markus M, Nyberg, Lars, Ophoff, Roel A, Owen, Michael J, Pantelis, Christos, Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S, Sando, Sigrid B, Schall, Ulrich, Scott, Rodney J, Selbæk, Geir, Shumskaya, Elena, Silva, Ana I, Sisodiya, Sanjay M, Stein, Frederike, Stein, Dan J, Straube, Benjamin, Streit, Fabian, Strike, Lachlan T, Teumer, Alexander, Teutenberg, Lea
Published in Biological psychiatry (1969) (15.01.2024)
Published in Biological psychiatry (1969) (15.01.2024)
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Variant Score Ranker—a web application for intuitive missense variant prioritization
Du, Juanjiangmeng, Sudarsanam, Monica, Pérez-Palma, Eduardo, Ganna, Andrea, Francioli, Laurent, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Leu, Costin, Weisburd, Ben, Poterba, Tim, Nürnberg, Peter, Daly, Mark J, Palotie, Aarno, May, Patrick, Lal, Dennis
Published in Bioinformatics (01.11.2019)
Published in Bioinformatics (01.11.2019)
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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Dibbens, Leanne M., Mullen, Saul, Helbig, Ingo, Mefford, Heather C., Bayly, Marta A., Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E., Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.
Published in Human molecular genetics (01.10.2009)
Published in Human molecular genetics (01.10.2009)
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Povysil, Gundula, Allen, Andrew S., Howrigan, Daniel P., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Heyne, Henrike, Churchhouse, Claire, Watts, Nick, Lal, Dennis, Gupta, Namrata, Cavalleri, Gianpiero L., Hakonarson, Hakon, Marson, Anthony G., Petrovski, Slavé, Sisodiya, Sanjay M., Depondt, Chantal, Scheffer, Ingrid E., Krause, Roland, Regan, Brigid M., Leu, Costin, Leech, Stephanie L., Todaro, Marian, Stamberger, Hannah, Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Laššuthová, Petra, Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Rademacher, Annika, von Spiczak, Sarah, Kanaan, Moien, Canavati, Christina, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Kegele, Josua, Borggräfe, Ingo, Mayer, Thomas, Brockmann, Knut, Madeleyn, Rene, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Derambure, Philippe, Hirsch, Edouard, Chassoux, Francine, Chung, Seo-Kyung, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Johnson, Michael R., Auce, Pauls, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Iacomino, Michele, Riva, Antonella, Vari, Maria Stella, Salpietro, Vincenzo, Mancardi, Maria Margherita, Nobili, Lino, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Tinuper, Paolo, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Parrini, Elena, Bianchini, Claudia, Montomoli, Martino, Hirose, Shinichi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Sadleir, Lynette G., Topaloglu, Pınar, Baykan, Betül, Özkara, Çiğdem, Ho, Chen-Jui, Chou, I-Jun, Shain, Catherine, Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Ferguson, Lisa, Clark, Peggy O., Privitera, Michael, Schachter, Steven, Cosico, Mahgenn, Lowenstein, Daniel H., Goldstein, David B.
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
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