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Percorrer por autor "Klauck, Sabine M."

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  • Analysis of shared heritability in common disorders of the brain
    Publication . 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.; Schoch, Susanne; Sisodiya, Sanjay M.; Smith, Philip; Sperling, Michael; Striano, Pasquale; Surges, Rainer; Thomas, G. Neil; Visscher, Frank; Whelan, Christopher D.; Berr, Claudine; Kurth, Tobias; Zara, Federico; Heinzen, Erin L.; Marson, Anthony; Becker, Felicitas; Stroink, Hans; Zimprich, Fritz; Gasser, Thomas; Gibbs, Raphael; Heutink, Peter; Martinez, Maria; Ligthart, Lannie; Letenneur, Luc; Morris, Huw R.; Sharma, Manu; Ryten, Mina; Mok, Kin Y.; Pulit, Sara; Bevan, Steve; Holliday, Elizabeth; Attia, John; Battey, Thomas; Terwindt, Gisela M.; Boncoraglio, Giorgio; Hannequin, Didier; Thijs, Vincent; Chen, Wei-Min; Mitchell, Braxton; Rothwell, Peter; Sharma, Pankaj; Sudlow, Cathie; Vicente, Astrid; Markus, Hugh; Freilinger, Tobias; Kourkoulis, Christina; Pera, Joana; Amouyel, Philippe; Raffeld, Miriam; Silliman, Scott; Boraska Perica, Vesna; Thornton, Laura M.; Huckins, Laura M.; William Rayner, N.; Lewis, Cathryn M.; Ran, Caroline; Gratacos, Monica; Rybakowski, Filip; Keski-Rahkonen, Anna; Boland, Anne; Raevuori, Anu; Hudson, James I.; Reichborn-Kjennerud, Ted; Monteleone, Palmiero; Karwautz, Andreas; Mannik, Katrin; Gordon, Scott D.; Baker, Jessica H.; O’Toole, Julie K.; Trace, Sara E.; Davis, Oliver S. P.; Deleuze, Jean-François; Helder, Sietske G.; Ehrlich, Stefan; Herpertz-Dahlmann, Beate; Danner, Unna N.; van Elburg, Annemarie A.; Borck, Guntram; Clementi, Maurizio; Forzan, Monica; Docampo, Elisa; Lissowska, Jolanta; Hauser, Joanna; Duron, Emmanuelle; Tortorella, Alfonso; Maj, Mario; Gonidakis, Fragiskos; Tziouvas, Konstantinos; Adams, Hieab H.H.; Papezova, Hana; Yilmaz, Zeynep; Wagner, Gudrun; Cohen-Woods, Sarah; Herms, Stefan; Julià, Antonio; Vardarajan, Badri N.; Rabionet, Raquel; Dick, Danielle M.; Ripatti, Samuli; Lehtimäki, Terho; Andreassen, Ole A.; Espeseth, Thomas; Lundervold, Astri J.; Steen, Vidar M.; Pinto, Dalila; Scherer, Stephen W.; Aschauer, Harald; Reitz, Christiane; Schosser, Alexandra; Alfredsson, Lars; Wedenoja, Juho; Padyukov, Leonid; Halmi, Katherine A.; Mitchell, James; Strober, Michael; Bergen, Andrew W.; Kaye, Walter; Szatkiewicz, Jin Peng; Cormand, Bru; Goate, Alison M.; Ramos-Quiroga, Josep Antoni; Ripke, Stephan; Sánchez-Mora, Cristina; Ribasés, Marta; Casas, Miguel; Hervas, Amaia; Arranz, Maria Jesús; Haavik, Jan; Zayats, Tetyana; Johansson, Stefan; Williams, Nigel; Huentelman, Matthew J.; Buring, Julie E.; Elia, Josephine; Dempfle, Astrid; Rothenberger, Aribert; Kuntsi, Jonna; Oades, Robert D.; Banaschewski, Tobias; Franke, Barbara; Buitelaar, Jan K.; Arias Vasquez, Alejandro; Doyle, Alysa E.; Schürks, Markus; Kamboh, M. Ilyas; Reif, Andreas; Lesch, Klaus-Peter; Freitag, Christine; Rivero, Olga; Palmason, Haukur; Romanos, Marcel; Langley, Kate; Rietschel, Marcella; Witt, Stephanie H.; Hrafnsdottir, Maria; Dalsgaard, Soeren; Larson, Eric B.; Børglum, Anders D.; Waldman, Irwin; Wilmot, Beth; Molly, Nikolas; Bau, Claiton H.D.; Crosbie, Jennifer; Schachar, Russell; Loo, Sandra K.; Hottenga, Jouke-Jan; McGough, James J.; Grevet, Eugenio H.; Rogaeva, Ekaterina; Medland, Sarah E.; Robinson, Elise; Weiss, Lauren A.; Bacchelli, Elena; Bailey, Anthony; Bal, Vanessa; Battaglia, Agatino; Penninx, Brenda; Betancur, Catalina; Bolton, Patrick; Cantor, Rita; St George-Hyslop, Peter; Celestino-Soper, Patrícia; Dawson, Geraldine; De Rubeis, Silvia; Duque, Frederico; Green, Andrew; Klauck, Sabine M.; Artto, Ville; Leboyer, Marion; Levitt, Pat; Maestrini, Elena; Mane, Shrikant; Hakonarson, Hakon; De-Luca, Daniel Moreno-; Parr, Jeremy; Regan, Regina; Reichenberg, Abraham; Sandin, Sven; Kaunisto, Mari; Vorstman, Jacob; Wassink, Thomas; Wijsman, Ellen; Cook, Edwin; Santangelo, Susan; Kukull, Walter A.; Delorme, Richard; Rogé, Bernadette; Magalhaes, Tiago; Arking, Dan; Vepsäläinen, Salli; Schulze, Thomas G.; Thompson, Robert C.; Strohmaier, Jana; Matthews, Keith; Melle, Ingrid; Morris, Derek; Farrer, Lindsay A.; Blackwood, Douglas; McIntosh, Andrew; Bergen, Sarah E; Martin, Nicholas G.; Schalling, Martin; Jamain, Stéphane; Maaser, Anna; Fischer, Sascha B.; Reinbold, Céline S.; Fullerton, Janice M.; Grigoroiu-Serbanescu, Maria; Barnes, Lisa L.; Guzman-Parra, José; Mayoral, Fermin; Montgomery, Grant W.; Schofield, Peter R.; Cichon, Sven; Mühleisen, Thomas W.; Degenhardt, Franziska; Schumacher, Johannes; Bauer, Michael; Mitchell, Philip B.; Gershon, Elliot S.; Beach, Thomas G.; Rice, John; Wei, Zhi; Potash, James B.; Zandi, Peter P.; Craddock, Nick; Ferrier, I. Nicol; Alda, Martin; Rouleau, Guy A.; Turecki, Gustavo; Ophoff, Roel; Pato, Carlos; Demirci, F. Yesim; Kurki, Mitja I.; Anjorin, Adebayo; Stahl, Eli; Leber, Markus; Czerski, Piotr M.; Edenberg, Howard J.; Cruceanu, Cristiana; Jones, Ian R.; Posthuma, Danielle; Andlauer, Till F.M.; Forstner, Andreas J.; Hämäläinen, Eija; Head, Elizabeth; Streit, Fabian; Baune, Bernhard T.; Air, Tracy; Sinnamon, Grant; Wray, Naomi R.; MacIntyre, Donald J.; Porteous, David; Homuth, Georg; Rivera, Margarita; Huang, Hailiang; Grove, Jakob; Hulette, Christine M.; Middeldorp, Christel M.; Hickie, Ian; Pergadia, Michele; Mehta, Divya; Smit, Johannes H.; Jansen, Rick; de Geus, Eco; Dunn, Erin; Huang, Jie; Li, Qingqin S.; Nauck, Matthias; Jicha, Gregory A.; Schoevers, Robert A.; Beekman, Aartjan TF; Knowles, James A.; Viktorin, Alexander; Arnold, Paul; Barr, Cathy L.; Bedoya-Berrio, Gabriel; Sandor, Cynthia; Bienvenu, O. Joseph; Brentani, Helena; Burton, Christie; Kauwe, John S.K.; Camarena, Beatriz; Cappi, Carolina; Cath, Danielle; Cavallini, Maria; Cusi, Daniele; Darrow, Sabrina; Webber, Caleb; Denys, Damiaan; Derks, Eske M.; Dietrich, Andrea; Fernandez, Thomas; Kaye, Jeffrey A.; Figee, Martijn; Freimer, Nelson; Gerber, Gloria; Grados, Marco; Greenberg, Erica; Muller-Myhsok, Bertram; Hanna, Gregory L.; Hartmann, Andreas; Hirschtritt, Matthew E.; Hoekstra, Pieter J.; Huang, Alden; Leverenz, James B.; Huyser, Chaim; Illmann, Cornelia; Jenike, Michael; Kuperman, Samuel; Schreiber, Stefan; Leventhal, Bennett; Lochner, Christine; Lyon, Gholson J.; Macciardi, Fabio; Madruga-Garrido, Marcos; Malaty, Irene A.; Levey, Allan I.; Maras, Athanasios; McGrath, Lauren; Miguel, Eurípedes C.; Salomaa, Veikko; Mir, Pablo; Nestadt, Gerald; Nicolini, Humberto; Okun, Michael S.; Pakstis, Andrew; Paschou, Peristera; Piacentini, John; Lieberman, Andrew P.; Pittenger, Christopher; Plessen, Kerstin; Loehrer, Elizabeth; Ramensky, Vasily; Ramos, Eliana M.; Reus, Victor; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Roessner, Veit; Rosário, Maria; Pankratz, Vernon S.; Samuels, Jack F.; Yu, Dongmei; Sandor, Paul; Stein, Dan J.; Tsetsos, Fotis; Van Nieuwerburgh, Filip; Weatherall, Sarah; Wendland, Jens R.; Wolanczyk, Tomasz; Worbe, Yulia; Zai, Gwyneth; Poon, Wayne W.; Göbel, Hartmut; Goes, Fernando S.; McLaughlin, Nicole; Nestadt, Paul S.; Grabe, Hans-Jorgen; Depienne, Christel; Konkashbaev, Anuar; Lanzagorta, Nuria; Valencia-Duarte, Ana; Bramon, Elvira; Buccola, Nancy; Macaya, Alfons; Quinn, Joseph F.; Cahn, Wiepke; Cairns, Murray; Chong, Siow A.; Cohen, David; Crespo-Facorro, Benedicto; Crowley, James; Davidson, Michael; DeLisi, Lynn; Dinan, Timothy; Pozo-Rosich, Patricia; Donohoe, Gary; Saykin, Andrew J.; Drapeau, Elodie; Duan, Jubao; Haan, Lieuwe; Hougaard, David; Karachanak-Yankova, Sena; Khrunin, Andrey; Klovins, Janis; Kučinskas, Vaidutis; Hansen, Thomas; Lee Chee Keong, Jimmy; Limborska, Svetlana; Schneider, Lon S.; Loughland, Carmel; Lönnqvist, Jouko; Maher, Brion; Mattheisen, Manuel; McDonald, Colm; Murphy, Kieran C.; Murray, Robin; Werge, Thomas; Nenadic, Igor; van Os, Jim; Pantelis, Christos; Smith, Amanda G.; Pato, Michele; Petryshen, Tracey; Quested, Digby; Roussos, Panos; Sanders, Alan R.; Schall, Ulrich; Kaprio, Jaakko; Schwab, Sibylle G.; Sim, Kang; So, Hon-Cheong; Stögmann, Elisabeth; Sonnen, Joshua A.; Subramaniam, Mythily; Toncheva, Draga; Waddington, John; Walters, James; Weiser, Mark; Metspalu, Andres; Cheng, Wei; Cloninger, Robert; Curtis, David; Gejman, Pablo V.; Henskens, Frans; Stern, Robert A.; Mattingsdal, Morten; Oh, Sang-Yun; Scott, Rodney; Webb, Bradley; Kubisch, Christian; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M.; Daly, Mark; Dichgans, Martin; Faraone, Stephen V.; Van Deerlin, Vivianna M.; Guerreiro, Rita; Holmans, Peter; Kendler, Kenneth S.; Ferrari, Michel D.; Koeleman, Bobby; Mathews, Carol A.; Price, Alkes; Scharf, Jeremiah; Sklar, Pamela; Williams, Julie; Wood, Nicholas W.; Van Eldik, Linda J.; Cotsapas, Chris; Palotie, Aarno; Belin, Andrea C.; Smoller, Jordan W.; Sullivan, Patrick; Rosand, Jonathan; Corvin, Aiden; Neale, Benjamin M.; The Brainstorm Consortium; Harold, Denise; Russo, Giancarlo; Rubinsztein, David C.; Bayer, Anthony; Lee, Phil H.; Tsolaki, Magda; Proitsi, Petra; Fox, Nick C.; Hampel, Harald; Owen, Michael J.; Mead, Simon; Passmore, Peter; Morgan, Kevin; Nöthen, Markus M.; Schott, Jonathan M.; van den Maagdenberg, Arn M.J.M.; Rossor, Martin; Lupton, Michelle K.; Hoffmann, Per; Kornhuber, Johannes; Lawlor, Brian; McQuillin, Andrew; Al-Chalabi, Ammar; Bis, Joshua C; Ruiz, Agustin; Boada, Mercè; Zwart, John-Anker; 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; Boomsma, Dorret; Hyman, Bradley T.; Cruchaga, Carlos; Alegret, Montserrat; Winsvold, Bendik; Palta, Priit; Farh, Kai-How; Cuenca-Leon, Ester; Furlotte, Nicholas; Eriksson, Nicholas; Olesen, Jes; Chasman, Daniel I.; Nyholt, Dale R.; Anney, Richard; Avbersek, Andreja; Baum, Larry; Turley, Patrick; Berkovic, Samuel; Bradfield, Jonathan; Buono, Russell; Catarino, Claudia B.; Cossette, Patrick; De Jonghe, Peter; Depondt, Chantal; Dlugos, Dennis; Ferraro, Thomas N.; French, Jacqueline; Grenier-Boley, Benjamin; Hjalgrim, Helle; Jamnadas-Khoda, Jennifer; Kälviäinen, Reetta; Kunz, Wolfram S.; Lerche, Holger; Leu, Costin; Lindhout, Dick; Lo, Warren; Lowenstein, Daniel; McCormack, Mark; Chouraki, Vincent; Møller, Rikke S.; Molloy, Anne; Ng, Ping-Wing; Oliver, Karen; Privitera, Michael; Radtke, Rodney; Ruppert, Ann-Kathrin; Sander, Thomas; Schachter, Steven; Schankin, Christoph; Kamatani, Yoichiro; Scheffer, Ingrid
    Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology.
    2018-01-22Artigo científico Acesso restrito Ver mais
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
    Publication . Weiner, Daniel J.; Wigdor, Emilie M.; Ripke, Stephan; Walters, Raymond K.; Kosmicki, Jack A.; Grove, Jakob; Samocha, Kaitlin E.; Goldstein, Jacqueline I.; Okbay, Aysu; Bybjerg-Grauholm, Jonas; Werge, Thomas; Minshew, Nancy; Merikangas, Alison; McMahon, William M.; McGrew, Susan G.; Ladd-Acosta, Christine; Mattheisen, Manuel; Hougaard, David M.; Jacob, Suma; Bishop, Somer; Iliadou, Bozenna; Arking, Dan E.; Hultman, Christina M.; Hertz-Picciotto, Irva; Hendren, Robert; Hansen, Christine S.; Haines, Jonathan L.; Guter, Stephen J.; Grice, Dorothy E.; Green, Jonathan M.; Taylor, Jacob; Mortensen, Preben Bo; Skuse, David; Green, Andrew; Goldberg, Arthur P.; Gillberg, Christopher; Gilbert, John; Gallagher, Louise; Freitag, Christine M.; Fombonne, Eric; Folstein, Susan E.; Fernandez, Bridget; Fallin, M Daniele; Devlin, Bernie; Børglum, Anders D.; Bækvad-Hansen, Marie; Ercan-Sencicek, A Gulhan; Ennis, Sean; Duque, Frederico; Duketis, Eftichia; Delorme, Richard; De Rubeis, Silvia; De Jonge, Maretha V.; Dawson, Geraldine; Anney, Richard; Cuccaro, Michael L.; Smith, George Davey; Correia, Catarina T.; Dumont, Ashley; Conroy, Judith; Conceição, Inês C.; Chiocchetti, Andreas G.; Celestino-Soper, Patrícia B.S.; Casey, Jillian; Cantor, Rita M.; Mattheisen, Manuel; Café, Cátia; Brennan, Sean; Daly, Mark J.; Bourgeron, Thomas; Bolton, Patrick F.; Hansen, Christine; Bölte, Sven; Bolshakova, Nadia; Betancur, Catalina; Bernier, Raphael; Sanders, Stephan J.; Beaudet, Arthur L.; Battaglia, Agatino; Bal, Vanessa H.; Robinson, Elise B.; Baird, Gillian; Bailey, Anthony J.; Bækvad-Hansen, Marie; Hansen, Thomas F.; Bader, Joel S.; Bacchelli, Elena; Nordentoft, Merete; Anagnostou, Evdokia; Amaral, David; Almeida, Joana; Buxbaum, Joseph D.; Moran, Jennifer; Chakravarti, Aravinda; Cook, Edwin H.; Coon, Hilary; Geschwind, Daniel H.; Howrigan, Daniel; Nørgaard-Pedersen, Bent; Gill, Michael; Hakonarson, Hakon; Hallmayer, Joachim; Palotie, Aarno; Santangelo, Susan; Mors, Ole; Sutcliffe, James S.; Lowe, Jennifer K.; Poterba, Timothy; Martsenkovsky, Igor; Poulsen, Jesper; Stevens, Christine; Anttila, Verneri; Holmans, Peter; Huang, Hailiang; Klei, Lambertus; Lee, Phil H; Medland, Sarah E.; Neale, Benjamin; Lord, Catherine; Martin, Donna M.; Weiss, Lauren A.; Zwaigenbaum, Lonnie; Yu, Timothy W.; Wittemeyer, Kerstin; Willsey, A Jeremy; Wijsman, Ellen M; Wassink, Thomas H.; Waltes, Regina; Walsh, Christopher A.; Wallace, Simon; Mane, Shrikant M.; Levitt, Pat; Vorstman, Jacob A.S.; Vieland, Veronica J.; Vicente, Astrid M.; van Engeland, Herman; Tsang, Kathryn; Thompson, Ann P.; Szatmari, Peter; Svantesson, Oscar; Steinberg, Stacy; Magnusson, Pall; Stefansson, Kari; Martin, Christa Lese; Stefansson, Hreinn; State, Matthew W.; Soorya, Latha; Silagadze, Teimuraz; Scherer, Stephen W.; Schellenberg, Gerard D.; Sandin, Sven; Saemundsen, Evald; Magalhaes, Tiago; Rouleau, Guy A.; Rogé, Bernadette; Ledbetter, David H.; Roeder, Kathryn; Roberts, Wendy; Reichert, Jennifer; Reichenberg, Abraham; Rehnström, Karola; Regan, Regina; Poustka, Fritz; Maestrini, Elena; Poultney, Christopher S.; Piven, Joseph; Pinto, Dalila; Leboyer, Marion; Pericak-Vance, Margaret A.; Pejovic-Milovancevic, Milica; Pedersen, Marianne G.; Pedersen, Carsten B.; Paterson, Andrew D.; Parr, Jeremy R.; Kolevzon, Alexander; Pagnamenta, Alistair T.; Oliveira, Guiomar; Nurnberger, John I.; Nordentoft, Merete; Le Couteur, Ann S.; Murtha, Michael T.; Mouga, Susana; Mors, Ole; Morrow, Eric M.; De Luca, Daniel Moreno; Klauck, Sabine M.; Monaco, Anthony P.
    Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
    2017-07Artigo científico Acesso restrito Ver mais
  • The role of rare compound heterozygous events in autism spectrum disorder
    Publication . Lin, Bochao Danae; Colas, Fabrice; Nijman, Isaac J.; Medic, Jelena; Brands, William; Parr, Jeremy R.; van Eijk, Kristel R.; Klauck, Sabine M.; Chiocchetti, Andreas G.; Freitag, Christine M.; Maestrini, Elena; Bacchelli, Elena; Coon, Hilary; Vicente, Astrid; Oliveira, Guiomar; Pagnamenta, Alistair T.; Gallagher, Louise; Ennis, Sean; Anney, Richard; Bourgeron, Thomas; Luykx, Jurjen J.; Vorstman, Jacob
    The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity in ASD, namely, the occurrence of a deletion together with a functional nucleotide variant on the remaining allele, we sequenced 550 genes in 149 individuals with ASD and their deletion-transmitting parents. This approach allowed us to identify additional sequence variants occurring in the remaining allele of the deletion. Our main goal was to compare the rate of sequence variants in remaining alleles of deleted regions between probands and the deletion-transmitting parents. We also examined the predicted functional effect of the identified variants using Combined Annotation-Dependent Depletion (CADD) scores. The single nucleotide variant-deletion co-occurrence was observed in 13.4% of probands, compared with 8.1% of parents. The cumulative burden of sequence variants (n = 68) in pooled proband sequences was higher than the burden in pooled sequences from the deletion-transmitting parents (n = 41, X2 = 6.69, p = 0.0097). After filtering for those variants predicted to be most deleterious, we observed 21 of such variants in probands versus 8 in their deletion-transmitting parents (X2 = 5.82, p = 0.016). Finally, cumulative CADD scores conferred by these variants were significantly higher in probands than in deletion-transmitting parents (burden test, β = 0.13; p = 1.0 × 10-5). Our findings suggest that the compound heterozygosity described in the current study may be one of several mechanisms explaining variable penetrance of CNVs with known pathogenicity for ASD.
    2020-06-22Artigo científico Acesso aberto Ver mais