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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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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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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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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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Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants
Lefkowitz, Roy B., Tynan, John A., Liu, Tong, Wu, Yijin, Mazloom, Amin R., Almasri, Eyad, Hogg, Grant, Angkachatchai, Vach, Zhao, Chen, Grosu, Daniel S., McLennan, Graham, Ehrich, Mathias
Published in American journal of obstetrics and gynecology (01.08.2016)
Published in American journal of obstetrics and gynecology (01.08.2016)
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Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants
Kumar, Kuldeep, Modenato, Claudia, Moreau, Clara, Ching, Christopher R.K., Harvey, Annabelle, Martin-Brevet, Sandra, Huguet, Guillaume, Jean-Louis, Martineau, Douard, Elise, Martin, Charles-Olivier, Younis, Nadine, Tamer, Petra, Maillard, Anne M., Rodriguez-Herreros, Borja, Pain, Aurélie, Kushan, Leila, Isaev, Dmitry, Alpert, Kathryn, Ragothaman, Anjani, Turner, Jessica A., Wang, Lei, Ho, Tiffany C., Schmaal, Lianne, Silva, Ana I., van den Bree, Marianne B.M., Linden, David E.J., Owen, Michael J., Hall, Jeremy, Lippé, Sarah, Dumas, Guillaume, Draganski, Bogdan, Gutman, Boris A., Sønderby, Ida E., Andreassen, Ole A., Schultz, Laura M., Almasy, Laura, Glahn, David C., Bearden, Carrie E., Thompson, Paul M., Jacquemont, Sébastien
Published in The American journal of psychiatry (01.09.2023)
Published in The American journal of psychiatry (01.09.2023)
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Frequency of sex chromosome involvement in a large cohort of subjects with two copy number variants (CNVs)
Vara, Autumn, Smith, Janice L, Hashmi, S Shahrukh, Wagner, Victoria F, Gunther, Kathryn, Rodriguez-Buritica, David F
Published in Cytogenetic and genome research (18.05.2023)
Published in Cytogenetic and genome research (18.05.2023)
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Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
Hsieh, PingHsun, Vollger, Mitchell R., Dang, Vy, Porubsky, David, Baker, Carl, Cantsilieris, Stuart, Hoekzema, Kendra, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Kronenberg, Zev N., Murali, Shwetha, Nelson, Bradley J., Chiatante, Giorgia, Maggiolini, Flavia Angela Maria, Blanché, Hélène, Underwood, Jason G., Antonacci, Francesca, Deleuze, Jean-François, Eichler, Evan E.
Published in Science (American Association for the Advancement of Science) (18.10.2019)
Published in Science (American Association for the Advancement of Science) (18.10.2019)
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Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism
Stamou, Maria I, Brand, Harrison, Wang, Mei, Wong, Isaac, Lippincott, Margaret F, Plummer, Lacey, Crowley, William F, Talkowski, Michael, Seminara, Stephanie, Balasubramanian, Ravikumar
Published in The journal of clinical endocrinology and metabolism (01.08.2022)
Published in The journal of clinical endocrinology and metabolism (01.08.2022)
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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)
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Characterization of Single Gene Copy Number Variants in Schizophrenia
Szatkiewicz, Jin P., Fromer, Menachem, Nonneman, Randal J., Ancalade, NaEshia, Johnson, Jessica S., Stahl, Eli A., Rees, Elliott, Bergen, Sarah E., Hultman, Christina M., Kirov, George, O’Donovan, Michael, Owen, Michael, Holmans, Peter, Sklar, Pamela, Sullivan, Patrick F., Purcell, Shaun M., Crowley, James J., Ruderfer, Douglas M.
Published in Biological psychiatry (1969) (15.04.2020)
Published in Biological psychiatry (1969) (15.04.2020)
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Clinical features and magnesium levels: Novel insights in 15q11.2 BP1–BP2 copy number variants
Meossi, C., Carrer, A., Ciaccio, C., Estienne, M., Silipigni, R., Sciacca, F. L., Pantaleoni, C., D'Arrigo, S., Milani, D.
Published in Journal of intellectual disability research (01.07.2023)
Published in Journal of intellectual disability research (01.07.2023)
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Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder
Brownstein, Catherine A., Douard, Elise, Mollon, Josephine, Smith, Richard, Hojlo, Margaret A., Das, Ananth, Goldman, Maria, Garvey, Emily, Cabral, Kristin, Li, Jianqiao, Bowen, Joshua, Rao, Abhijit S., Genetti, Casie, Carroll, Devon, Knowles, Emma E. M., Deaso, Emma, Agrawal, Pankaj B., Beggs, Alan H., D’Angelo, Eugene, Almasy, Laura, Alexander-Bloch, Aaron, Saci, Zohra, Moreau, Clara A., Huguet, Guillaume, Deo, Anthony J., Jacquemont, Sébastien, Glahn, David C., Gonzalez-Heydrich, Joseph
Published in The American journal of psychiatry (01.11.2022)
Published in The American journal of psychiatry (01.11.2022)
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From Rare Copy Number Variants to Biological Processes in ADHD
Harich, Benjamin, van der Voet, Monique, Klein, Marieke, Čížek, Pavel, Fenckova, Michaela, Schenck, Annette, Franke, Barbara
Published in The American journal of psychiatry (01.09.2020)
Published in The American journal of psychiatry (01.09.2020)
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Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3
Williams, Nigel M., Franke, Barbara, Mick, Eric, Anney, Richard J.L., Freitag, Christine M., Gill, Michael, Thapar, Anita, O'Donovan, Michael C., Owen, Michael J., Holmans, Peter, Kent, Lindsey, Middleton, Frank, Zhang-James, Yanli, Liu, Lu, Meyer, Jobst, Nguyen, Thuy Trang, Romanos, Jasmin, Romanos, Marcel, Seitz, Christiane, Renner, Tobias J., Walitza, Susanne, Warnke, Andreas, Palmason, Haukur, Buitelaar, Jan, Rommelse, Nanda, Vasquez, Alejandro Arias, Hawi, Ziarih, Langley, Kate, Sergeant, Joseph, Steinhausen, Hans-Christoph, Roeyers, Herbert, Biederman, Joseph, Zaharieva, Irina, Hakonarson, Hakon, Elia, Josephine, Lionel, Anath C., Crosbie, Jennifer, Marshall, Christian R., Schachar, Russell, Scherer, Stephen W., Todorov, Alexandre, Smalley, Susan L., Loo, Sandra, Nelson, Stanley, Shtir, Corina, Asherson, Philip, Reif, Andreas, Lesch, Klaus-Peter, Faraone, Stephen V.
Published in The American journal of psychiatry (01.02.2012)
Published in The American journal of psychiatry (01.02.2012)
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Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing
Amin, Asmaa K., El‐Dessouky, Sara H., Elmaksoud, Marwa Abd, Nabil, Amira, Aboulghar, Mona M., Senousy, Sameh M., Elbagoury, Nagham M., Abdel‐Aleem, Asmaa F., Essawi, Mona L., El‐Awady, Heba A., Ashaat, Engy A., Issa, Mahmoud Y., Alaadin, Khoushoua, Matsa, Lova S., Issa, Noha M., Zaki, Maha S., Eid, Maha Mohamed, Sharaf‐Eldin, Wessam E., Abdalla, Ebtesam
Published in Clinical genetics (29.04.2025)
Published in Clinical genetics (29.04.2025)
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Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implications
He, Guo‐Wei, Maslen, Cheryl L., Chen, Huan‐Xin, Hou, Hai‐Tao, Bai, Xiao‐Yan, Wang, Xiu‐Li, Liu, Xiao‐Cheng, Lu, Wan‐Li, Chen, Xin‐Xin, Chen, Wei‐Dan, Xing, Quan‐Sheng, Wu, Qin, Wang, Jun, Yang, Qin
Published in Clinical genetics (01.11.2022)
Published in Clinical genetics (01.11.2022)
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84 RARE COPY NUMBER VARIANTS IN CONGENITAL HEART DEFECTS
Davidović, Maša, Pohovski, Leona Morožin, Rogulj, Nikolina Vidan, Sansovic, Ivona, Bobinec, Adriana, Meašić, Ana-Maria, Kero, Mijana, Boban, Ljubica, Malčić, Ivan, Barišic, Ingeborg
Published in Archives of disease in childhood (01.10.2021)
Published in Archives of disease in childhood (01.10.2021)
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Striatal dopaminergic alterations in individuals with copy number variants at the 22q11.2 genetic locus and their implications for psychosis risk: a [18F]-DOPA PET study
Rogdaki, Maria, Devroye, Céline, Ciampoli, Mariasole, Veronese, Mattia, Ashok, Abhishekh H., McCutcheon, Robert A., Jauhar, Sameer, Bonoldi, Ilaria, Gudbrandsen, Maria, Daly, Eileen, van Amelsvoort, Therese, Van Den Bree, Marianne, Owen, Michael J., Turkheimer, Federico, Papaleo, Francesco, Howes, Oliver D.
Published in Molecular psychiatry (01.05.2023)
Published in Molecular psychiatry (01.05.2023)
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Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
Bourgois, Alexia, Bizaoui, Varoona, Colson, Cindy, Vincent‐Devulder, Aline, Molin, Arnaud, Gérard, Marion, Gruchy, Nicolas
Published in American journal of medical genetics. Part A (01.03.2024)
Published in American journal of medical genetics. Part A (01.03.2024)
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