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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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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)
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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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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)
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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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 (01.10.2025)
Published in Clinical genetics (01.10.2025)
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Journal Article
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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Journal Article
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
Pettersson, Maria, Viljakainen, Heli, Loid, Petra, Mustila, Taina, Pekkinen, Minna, Armenio, Miriam, Andersson-Assarsson, Johanna C, Mäkitie, Outi, Lindstrand, Anna
Published in The journal of clinical endocrinology and metabolism (01.08.2017)
Published in The journal of clinical endocrinology and metabolism (01.08.2017)
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Journal Article
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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Journal Article
Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations
Holesova, Zuzana, Pös, Ondrej, Gazdarica, Juraj, Kucharik, Marcel, Budis, Jaroslav, Hyblova, Michaela, Minarik, Gabriel, Szemes, Tomas
Published in BMC genomics (15.04.2024)
Published in BMC genomics (15.04.2024)
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Journal Article
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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Journal Article