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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)
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Mitochondrial DNA Copy Number Variations and Serum Pepsinogen Levels for Risk Assessment in Gastric Cancer
Alikhani, Mehdi, Saberi, Samaneh, Esmaeili, Maryam, Michel, Valérie, Tashakoripour, Mohammad, Abdirad, Afshin, Aghakhani, Arezoo, Eybpoosh, Sana, Vosough, Massoud, Mohagheghi, Mohammad Ali, Eshagh Hosseini, Mahmoud, Touati, Eliette, Mohammadi, Marjan
Published in Iranian biomedical journal (01.09.2021)
Published in Iranian biomedical journal (01.09.2021)
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Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome
Žilina, Olga, Koltšina, Marina, Raid, Raivo, Kurg, Ants, Tõnisson, Neeme, Salumets, Andres
Published in BMC genomics (16.09.2015)
Published in BMC genomics (16.09.2015)
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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)
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Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis
Greiner, Georg, Sprinzl, Bettina, Górska, Aleksandra, Ratzinger, Franz, Gurbisz, Michael, Witzeneder, Nadine, Schmetterer, Klaus G., Gisslinger, Bettina, Uyanik, Goekhan, Hadzijusufovic, Emir, Esterbauer, Harald, Gleixner, Karoline V., Krauth, Maria T., Pfeilstöcker, Michael, Keil, Felix, Gisslinger, Heinz, Nedoszytko, Boguslaw, Niedoszytko, Marek, Sperr, Wolfgang R., Valent, Peter, Hoermann, Gregor
Published in Blood (14.01.2021)
Published in Blood (14.01.2021)
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Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia
Bergen, Sarah E, Ploner, Alexander, Howrigan, Daniel, O’Donovan, Michael C, Smoller, Jordan W, Sullivan, Patrick F, Sebat, Jonathan, Neale, Benjamin, Kendler, Kenneth S
Published in The American journal of psychiatry (01.01.2019)
Published in The American journal of psychiatry (01.01.2019)
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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)
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Vorstman, Jacob A.S., Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T., Oliveira, Bárbara, Magalhaes, Tiago R., Lowe, Jennifer K., Howe, Jennifer L., Gilbert, John, Duketis, Eftichia, Dombroski, Beth A., Cuccaro, Michael, Crawford, Emily L., Correia, Catarina T., Conroy, Judith, Conceição, Inês C., Chiocchetti, Andreas G., Casey, Jillian P., Cai, Guiqing, Cabrol, Christelle, Bacchelli, Elena, Gallinger, Steven, Cotterchio, Michelle, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Rogé, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, McInnes, L. Alison, McGrew, Susan G., Lord, Catherine, Leboyer, Marion, Le Couteur, Ann S., Kolevzon, Alexander, Jiménez González, Patricia, Jacob, Suma, Holt, Richard, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F., Bernier, Raphael, Baird, Gillian, Bailey, Anthony J., Almeida, Joana, Wijsman, Ellen M., Vieland, Veronica J., Vicente, Astrid M., Schellenberg, Gerard D., Pericak-Vance, Margaret, Paterson, Andrew D., Parr, Jeremy R., Oliveira, Guiomar, Nurnberger, John I., Monaco, Anthony P., Maestrini, Elena, Klauck, Sabine M., Hakonarson, Hakon, Haines, Jonathan L., Geschwind, Daniel H., Freitag, Christine M., Folstein, Susan E., Ennis, Sean, Coon, Hilary, Battaglia, Agatino, Szatmari, Peter, Sutcliffe, James S., Hallmayer, Joachim, Gill, Michael, Cook, Edwin H., Buxbaum, Joseph D., Devlin, Bernie, Gallagher, Louise, Betancur, Catalina, Scherer, Stephen W.
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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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)
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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)
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
C Yuen, Ryan K, Merico, Daniele, Bookman, Matt, L Howe, Jennifer, Thiruvahindrapuram, Bhooma, Patel, Rohan V, Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A, Walker, Susan, Marshall, Christian R, Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D'Abate, Lia, Chan, Ada J S, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L, Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J, Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R, Nalpathamkalam, Thomas, Sung, Wilson W L, Tsoi, Fiona J, Wei, John, Xu, Lizhen, Tasse, Anne-Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie MacKinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M, Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H, Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A, Parr, Jeremy R, Spence, Sarah J, Vorstman, Jacob, Frey, Brendan J, Robinson, James T, Strug, Lisa J, Fernandez, Bridget A, Elsabbagh, Mayada, Carter, Melissa T, Hallmayer, Joachim, Knoppers, Bartha M, Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H, Glazer, David, Pletcher, Mathew T, Scherer, Stephen W
Published in Nature neuroscience (01.04.2017)
Published in Nature neuroscience (01.04.2017)
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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Aref-Eshghi, Erfan, Bend, Eric G., Colaiacovo, Samantha, Caudle, Michelle, Chakrabarti, Rana, Napier, Melanie, Brick, Lauren, Brady, Lauren, Carere, Deanna Alexis, Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Saleh, Maha, Beaudet, Arthur L., Li, Chumei, Kozenko, Maryia, Karp, Natalya, Prasad, Chitra, Siu, Victoria Mok, Tarnopolsky, Mark A., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Krantz, Ian D., Deardorff, Matthew A., Schwartz, Charles E., Sadikovic, Bekim
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
Crawford, Thomas O., Paushkin, Sergey V., Kobayashi, Dione T., Forrest, Suzanne J., Joyce, Cynthia L., Finkel, Richard S., Kaufmann, Petra, Swoboda, Kathryn J., Tiziano, Danilo, Lomastro, Rosa, Li, Rebecca H., Trachtenberg, Felicia L., Plasterer, Thomas, Chen, Karen S.
Published in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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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)
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Abstract 5075: Genome-wide analysis of DNA copy number variations in osteosarcoma
Gokgoz, Nalan, Wunder, Jay S., Andrulis, Irene L.
Published in Cancer research (Chicago, Ill.) (15.04.2012)
Published in Cancer research (Chicago, Ill.) (15.04.2012)
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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)
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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)
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Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension
Hodgson, Joshua, Swietlik, Emilia M., Salmon, Richard M., Hadinnapola, Charaka, Nikolic, Ivana, Wharton, John, Guo, Jingxu, Liley, James, Haimel, Matthias, Bleda, Marta, Southgate, Laura, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lawrie, Allan, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Olschewski, Andrea, Olschewski, Horst, Ouwehand, Willem H., Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R., Trembath, Richard C., Noordegraaf, Anton Vonk, Wort, Stephen J., Wilkins, Martin R., Yu, Paul B., Li, Wei, Gräf, Stefan, Upton, Paul D., Morrell, Nicholas W.
Published in American journal of respiratory and critical care medicine (01.03.2020)
Published in American journal of respiratory and critical care medicine (01.03.2020)
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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., Hakonarson, Hakon
Published in Nature communications (14.01.2020)
Published in Nature communications (14.01.2020)
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