Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Merico, Daniele, Antaki, Danny, Shetty, Aniket, Gujral, Madhusudan, Brandler, William M, Malhotra, Dheeraj, Alexander, Madeline, Belliveau, Richard A, Bergen, Sarah E, Bertalan, Marcelo, Bevilacqua, Elizabeth, Cantor, Rita M, Carrera, Noa, Cormican, Paul, Crespo-Facorro, Benedicto, Curtis, David, Davidson, Michael, Degenhardt, Franziska, Del Favero, Jurgen, DeLisi, Lynn E, Dudbridge, Frank, Eichhammer, Peter, Eriksson, Johan, Essioux, Laurent, Farrell, Martilias S, Freedman, Robert, Freimer, Nelson B, Georgieva, Lyudmila, Gershon, Elliot S, Giegling, Ina, Godard, Stephanie, Goldstein, Jacqueline I, Hamshere, Marian L, Hartmann, Annette M, Hofman, Andrea, Kähler, Anna K, Kalaydjieva, Luba, Kelly, Brian J, Lee, S Hong, Legge, Sophie E, Lerer, Bernard, Levy, Deborah L, Maher, Brion S, Mattingsdal, Morten, McDonald, Colm, Metspalu, Andres, Milanova, Vihra, Morris, Derek W, Murray, Robin M, Nestadt, Gerald, Nicodemus, Kristin K, Nordin, Annelie, Oh, Sang-Yun, Olsen, Line, Van Os, Jim, Pantelis, Christos, Pers, Tune H, Powell, John, Price, Alkes, Pulver, Ann E, Purcell, Shaun M, Rasmussen, Henrik B, Richards, Alexander L, Roussos, Panos, Schall, Ulrich, Schwab, Sibylle G, Smoller, Jordan W, Spencer, Chris C A, Stahl, Eli A, Stroup, T Scott, Suvisaari, Jaana, Svrakic, Dragan M, Szatkiewicz, Jin P, Veijola, Juha, Waddington, John, Webb, Bradley T, Williams, Nigel M, Williams, Stephanie, Wolen, Aaron R, Adolfsson, Rolf, Blackwood, Douglas H R, Bramon, Elvira, Buxbaum, Joseph D, Collier, David A, Daly, Mark J, Darvasi, Ariel, Domenici, Enrico, Gill, Michael, Iwata, Nakao, Jablensky, Assen V, Jönsson, Erik G, Kirov, George, Knight, Jo, Levinson, Douglas F, Ophoff, Roel A, Owen, Michael J, Rietschel, Marcella, Rujescu, Dan, O'Donovan, Michael C, Neale, Benjamin M
Published in Nature genetics (01.01.2017)
Published in Nature genetics (01.01.2017)
Get full text
Journal Article
Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects
Kendall, Kimberley M., Rees, Elliott, Escott-Price, Valentina, Einon, Mark, Thomas, Rhys, Hewitt, Jonathan, O’Donovan, Michael C., Owen, Michael J., Walters, James T.R., Kirov, George
Published in Biological psychiatry (1969) (15.07.2017)
Published in Biological psychiatry (1969) (15.07.2017)
Get full text
Journal Article
Genomic Instability in Cancer: Teetering on the Limit of Tolerance
Andor, Noemi, Maley, Carlo C., Ji, Hanlee P.
Published in Cancer research (Chicago, Ill.) (01.05.2017)
Published in Cancer research (Chicago, Ill.) (01.05.2017)
Get full text
Journal Article
Altered DNA Methylation and Differential Expression of Genes Influencing Metabolism and Inflammation in Adipose Tissue From Subjects With Type 2 Diabetes
Nilsson, Emma, Jansson, Per Anders, Perfilyev, Alexander, Volkov, Petr, Pedersen, Maria, Svensson, Maria K., Poulsen, Pernille, Ribel-Madsen, Rasmus, Pedersen, Nancy L., Almgren, Peter, Fadista, João, Rönn, Tina, Klarlund Pedersen, Bente, Scheele, Camilla, Vaag, Allan, Ling, Charlotte
Published in Diabetes (New York, N.Y.) (01.09.2014)
Published in Diabetes (New York, N.Y.) (01.09.2014)
Get full text
Journal Article
Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments
Sun, Kun, Jiang, Peiyong, Chan, K. C. Allen, Wong, John, Cheng, Yvonne K. Y., Liang, Raymond H. S., Chan, Wai-kong, Ma, Edmond S. K., Chan, Stephen L., Cheng, Suk Hang, Chan, Rebecca W. Y., Tong, Yu K., Ng, Simon S. M., Wong, Raymond S. M., Hui, David S. C., Leung, Tse Ngong, Leung, Tak Y., Lai, Paul B. S., Chiu, Rossa W. K., Lo, Yuk Ming Dennis
Published in Proceedings of the National Academy of Sciences - PNAS (06.10.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (06.10.2015)
Get full text
Journal Article
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P, Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J, Palotie, Aarno, Lal, Dennis, Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Lal, Dennis, Churchhouse, Claire, Gupta, Namrata, Neale, Benjamin M, Berkovic, Samuel F, Lerche, Holger, Goldstein, David B, Lowenstein, Daniel H, Cavalleri, Gianpiero L, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L, Helbig, Ingo, Kwan, Patrick, Marson, Anthony G, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther C, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Šterbová, Katalin, Vlcková, Markéta, Sedlácková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G
Published in Brain (London, England : 1878) (01.07.2020)
Published in Brain (London, England : 1878) (01.07.2020)
Get full text
Journal Article
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number
Lyons, Jonathan J, Yu, Xiaomin, Hughes, Jason D, Le, Quang T, Jamil, Ali, Bai, Yun, Ho, Nancy, Zhao, Ming, Liu, Yihui, O'Connell, Michael P, Trivedi, Neil N, Nelson, Celeste, DiMaggio, Thomas, Jones, Nina, Matthews, Helen, Lewis, Katie L, Oler, Andrew J, Carlson, Ryan J, Arkwright, Peter D, Hong, Celine, Agama, Sherene, Wilson, Todd M, Tucker, Sofie, Zhang, Yu, McElwee, Joshua J, Pao, Maryland, Glover, Sarah C, Rothenberg, Marc E, Hohman, Robert J, Stone, Kelly D, Caughey, George H, Heller, Theo, Metcalfe, Dean D, Biesecker, Leslie G, Schwartz, Lawrence B, Milner, Joshua D
Published in Nature genetics (01.12.2016)
Published in Nature genetics (01.12.2016)
Get full text
Journal Article
The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
Kirov, George, Rees, Elliott, Walters, James T.R., Escott-Price, Valentina, Georgieva, Lyudmila, Richards, Alexander L., Chambert, Kimberly D., Davies, Gerwyn, Legge, Sophie E., Moran, Jennifer L., McCarroll, Steven A., O’Donovan, Michael C., Owen, Michael J.
Published in Biological psychiatry (1969) (01.03.2014)
Published in Biological psychiatry (1969) (01.03.2014)
Get full text
Journal Article
Cancer aneuploidies are shaped primarily by effects on tumour fitness
Shih, Juliann, Sarmashghi, Shahab, Zhakula-Kostadinova, Nadja, Zhang, Shu, Georgis, Yohanna, Hoyt, Stephanie H., Cuoco, Michael S., Gao, Galen F., Spurr, Liam F., Berger, Ashton C., Ha, Gavin, Rendo, Veronica, Shen, Hui, Meyerson, Matthew, Cherniack, Andrew D., Taylor, Alison M., Beroukhim, Rameen
Published in Nature (London) (27.07.2023)
Published in Nature (London) (27.07.2023)
Get full text
Journal Article
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Pös, Ondrej, Radvanszky, Jan, Buglyó, Gergely, Pös, Zuzana, Rusnakova, Diana, Nagy, Bálint, Szemes, Tomas
Published in Biomedical Journal (01.10.2021)
Published in Biomedical Journal (01.10.2021)
Get full text
Journal Article
CNVs conferring risk of autism or schizophrenia affect cognition in controls
Stefansson, Hreinn, Meyer-Lindenberg, Andreas, Steinberg, Stacy, Magnusdottir, Brynja, Morgen, Katrin, Arnarsdottir, Sunna, Bjornsdottir, Gyda, Walters, G. Bragi, Jonsdottir, Gudrun A., Doyle, Orla M., Tost, Heike, Grimm, Oliver, Kristjansdottir, Solveig, Snorrason, Heimir, Davidsdottir, Solveig R., Gudmundsson, Larus J., Jonsson, Gudbjorn F., Stefansdottir, Berglind, Helgadottir, Isafold, Haraldsson, Magnus, Jonsdottir, Birna, Thygesen, Johan H., Schwarz, Adam J., Didriksen, Michael, Stensbøl, Tine B., Brammer, Michael, Kapur, Shitij, Halldorsson, Jonas G., Hreidarsson, Stefan, Saemundsen, Evald, Sigurdsson, Engilbert, Stefansson, Kari
Published in Nature (London) (16.01.2014)
Published in Nature (London) (16.01.2014)
Get full text
Journal Article
Replication stress links structural and numerical cancer chromosomal instability
Burrell, Rebecca A., McClelland, Sarah E., Endesfelder, David, Groth, Petra, Weller, Marie-Christine, Shaikh, Nadeem, Domingo, Enric, Kanu, Nnennaya, Dewhurst, Sally M., Gronroos, Eva, Chew, Su Kit, Rowan, Andrew J., Schenk, Arne, Sheffer, Michal, Howell, Michael, Kschischo, Maik, Behrens, Axel, Helleday, Thomas, Bartek, Jiri, Tomlinson, Ian P., Swanton, Charles
Published in Nature (London) (28.02.2013)
Published in Nature (London) (28.02.2013)
Get full text
Journal Article
Genome Reduction Uncovers a Large Dispensable Genome and Adaptive Role for Copy Number Variation in Asexually Propagated Solanum tuberosum
Hardigan, Michael A., Crisovan, Emily, Hamilton, John P., Kim, Jeongwoon, Laimbeer, Parker, Leisner, Courtney P., Manrique-Carpintero, Norma C., Newton, Linsey, Pham, Gina M., Vaillancourt, Brieanne, Yang, Xueming, Zeng, Zixian, Douches, David S., Jiang, Jiming, Veilleux, Richard E., Buell, C. Robin
Published in The Plant cell (01.02.2016)
Published in The Plant cell (01.02.2016)
Get full text
Journal Article
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
Zampaglione, Erin, Kinde, Benyam, Place, Emily M., Navarro-Gomez, Daniel, Maher, Matthew, Jamshidi, Farzad, Nassiri, Sherwin, Mazzone, J. Alex, Finn, Caitlin, Schlegel, Dana, Comander, Jason, Pierce, Eric A., Bujakowska, Kinga M.
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
Get full text
Journal Article
Circulating cell-free mitochondrial DNA, but not leukocyte mitochondrial DNA copy number, is elevated in major depressive disorder
Lindqvist, Daniel, Wolkowitz, Owen M., Picard, Martin, Ohlsson, Lars, Bersani, Francesco S., Fernström, Johan, Westrin, Åsa, Hough, Christina M., Lin, Jue, Reus, Victor I., Epel, Elissa S., Mellon, Synthia H.
Published in Neuropsychopharmacology (New York, N.Y.) (01.06.2018)
Published in Neuropsychopharmacology (New York, N.Y.) (01.06.2018)
Get full text
Journal Article
Predicting human genes susceptible to genomic instability associated with Alu / Alu -mediated rearrangements
Song, Xiaofei, Beck, Christine R., Du, Renqian, Campbell, Ian M., Coban-Akdemir, Zeynep, Gu, Shen, Breman, Amy M., Stankiewicz, Pawel, Ira, Grzegorz, Shaw, Chad A., Lupski, James R.
Published in Genome research (01.08.2018)
Published in Genome research (01.08.2018)
Get full text
Journal Article
Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications
Levinson, Douglas F., Duan, Jubao, Oh, Sang, Wang, Kai, Sanders, Alan R., Shi, Jianxin, Zhang, Nancy, Mowry, Bryan J., Olincy, Ann, Amin, Farooq, Cloninger, C. Robert, Silverman, Jeremy M., Buccola, Nancy G., Byerley, William F., Black, Donald W., Kendler, Kenneth S., Freedman, Robert, Dudbridge, Frank, Pe'er, Itsik, Hakonarson, Hakon, Bergen, Sarah E., Fanous, Ayman H., Holmans, Peter A., Gejman, Pablo V.
Published in The American journal of psychiatry (01.03.2011)
Published in The American journal of psychiatry (01.03.2011)
Get full text
Journal Article
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
Get full text
Journal Article
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
Kirov, G, Pocklington, A J, Holmans, P, Ivanov, D, Ikeda, M, Ruderfer, D, Moran, J, Chambert, K, Toncheva, D, Georgieva, L, Grozeva, D, Fjodorova, M, Wollerton, R, Rees, E, Nikolov, I, van de Lagemaat, L N, Bayés, À, Fernandez, E, Olason, P I, Böttcher, Y, Komiyama, N H, Collins, M O, Choudhary, J, Stefansson, K, Stefansson, H, Grant, S G N, Purcell, S, Sklar, P, O'Donovan, M C, Owen, M J
Published in Molecular psychiatry (01.02.2012)
Published in Molecular psychiatry (01.02.2012)
Get full text
Journal Article