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Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes
Gudbjartsson, Daniel F., Thorgeirsson, Gudmundur, Sulem, Patrick, Helgadottir, Anna, Gylfason, Arnaldur, Saemundsdottir, Jona, Bjornsson, Eythor, Norddahl, Gudmundur L., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Eggertsson, Hannes P., Gretarsdottir, Solveig, Thorleifsson, Gudmar, Indridason, Olafur S., Palsson, Runolfur, Jonasson, Fridbert, Jonsdottir, Ingileif, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Olafsson, Isleifur, Danielsen, Ragnar, Matthiasson, Stefan E., Kristmundsdottir, Snaedis, Halldorsson, Bjarni V., Hreidarsson, Astradur B., Valdimarsson, Einar M., Gudnason, Thorarinn, Benediktsson, Rafn, Steinthorsdottir, Valgerdur, Thorsteinsdottir, Unnur, Holm, Hilma, Stefansson, Kari
Published in Journal of the American College of Cardiology (17.12.2019)
Published in Journal of the American College of Cardiology (17.12.2019)
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Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders
Seidlitz, Jakob, Nadig, Ajay, Liu, Siyuan, Bethlehem, Richard A. I., Vértes, Petra E., Morgan, Sarah E., Váša, František, Romero-Garcia, Rafael, Lalonde, François M., Clasen, Liv S., Blumenthal, Jonathan D., Paquola, Casey, Bernhardt, Boris, Wagstyl, Konrad, Polioudakis, Damon, de la Torre-Ubieta, Luis, Geschwind, Daniel H., Han, Joan C., Lee, Nancy R., Murphy, Declan G., Bullmore, Edward T., Raznahan, Armin
Published in Nature communications (03.07.2020)
Published in Nature communications (03.07.2020)
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Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing
Leary, Rebecca J, Sausen, Mark, Kinde, Isaac, Papadopoulos, Nickolas, Carpten, John D, Craig, David, O'Shaughnessy, Joyce, Kinzler, Kenneth W, Parmigiani, Giovanni, Vogelstein, Bert, Diaz, Jr, Luis A, Velculescu, Victor E
Published in Science translational medicine (28.11.2012)
Published in Science translational medicine (28.11.2012)
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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)
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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)
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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)
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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)
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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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Fragile sites in cancer: more than meets the eye
Glover, Thomas W., Wilson, Thomas E., Arlt, Martin F.
Published in Nature reviews. Cancer (01.08.2017)
Published in Nature reviews. Cancer (01.08.2017)
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Epigenetic dysregulation from chromosomal transit in micronuclei
Agustinus, Albert S., Al-Rawi, Duaa, Dameracharla, Bhargavi, Raviram, Ramya, Jones, Bailey S. C. L., Stransky, Stephanie, Scipioni, Lorenzo, Luebeck, Jens, Di Bona, Melody, Norkunaite, Danguole, Myers, Robert M., Duran, Mercedes, Choi, Seongmin, Weigelt, Britta, Yomtoubian, Shira, McPherson, Andrew, Toufektchan, Eléonore, Keuper, Kristina, Mischel, Paul S., Mittal, Vivek, Shah, Sohrab P., Maciejowski, John, Storchova, Zuzana, Gratton, Enrico, Ly, Peter, Landau, Dan, Bakhoum, Mathieu F., Koche, Richard P., Sidoli, Simone, Bafna, Vineet, David, Yael, Bakhoum, Samuel F.
Published in Nature (London) (06.07.2023)
Published in Nature (London) (06.07.2023)
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Aberrant telomere length and mitochondrial DNA copy number in suicide completers
Otsuka, Ikuo, Izumi, Takeshi, Boku, Shuken, Kimura, Atsushi, Zhang, Yuan, Mouri, Kentaro, Okazaki, Satoshi, Shiroiwa, Kyoichi, Takahashi, Motonori, Ueno, Yasuhiro, Shirakawa, Osamu, Sora, Ichiro, Hishimoto, Akitoyo
Published in Scientific reports (09.06.2017)
Published in Scientific reports (09.06.2017)
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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)
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Transcriptome Analysis of the Human Striatum in Tourette Syndrome
Lennington, Jessica B., Coppola, Gianfilippo, Kataoka-Sasaki, Yuko, Fernandez, Thomas V., Palejev, Dean, Li, Yifan, Huttner, Anita, Pletikos, Mihovil, Sestan, Nenad, Leckman, James F., Vaccarino, Flora M.
Published in Biological psychiatry (1969) (01.03.2016)
Published in Biological psychiatry (1969) (01.03.2016)
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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)
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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)
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Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders
Zhang, Ling, Wang, Jingmin, Zhang, Cheng, Li, Dongxiao, Carvalho, Claudia M.B., Ji, Haoran, Xiao, Jianqiu, Wu, Ye, Zhou, Weichen, Wang, Hongyan, Jin, Li, Luo, Yang, Wu, Xiru, Lupski, James R., Zhang, Feng, Jiang, Yuwu
Published in Human molecular genetics (15.05.2017)
Published in Human molecular genetics (15.05.2017)
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Triple-Negative Breast Cancer and the Need for New Therapeutic Targets
Engebraaten, Olav, Vollan, Hans Kristian Moen, Børresen-Dale, Anne-Lise
Published in The American journal of pathology (01.10.2013)
Published in The American journal of pathology (01.10.2013)
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Mitochondrial DNA copy number in peripheral blood cells declines with age and is associated with general health among elderly
Mengel-From, Jonas, Thinggaard, Mikael, Dalgård, Christine, Kyvik, Kirsten Ohm, Christensen, Kaare, Christiansen, Lene
Published in Human genetics (01.09.2014)
Published in Human genetics (01.09.2014)
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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
Isles, Anthony R., Ingason, Andrés, Lowther, Chelsea, Walters, James, Gawlick, Micha, Stöber, Gerald, Rees, Elliott, Martin, Joanna, Little, Rosie B., Potter, Harry, Georgieva, Lyudmila, Pizzo, Lucilla, Ozaki, Norio, Aleksic, Branko, Kushima, Itaru, Ikeda, Masashi, Iwata, Nakao, Levinson, Douglas F., Gejman, Pablo V., Shi, Jianxin, Sanders, Alan R., Duan, Jubao, Willis, Joseph, Sisodiya, Sanjay, Costain, Gregory, Werge, Thomas M., Degenhardt, Franziska, Giegling, Ina, Rujescu, Dan, Hreidarsson, Stefan J., Saemundsen, Evald, Ahn, Joo Wook, Ogilvie, Caroline, Girirajan, Santhosh D., Stefansson, Hreinn, Stefansson, Kari, O’Donovan, Michael C., Owen, Michael J., Bassett, Anne, Kirov, George
Published in PLoS genetics (06.05.2016)
Published in PLoS genetics (06.05.2016)
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Contribution of copy number variations to education, socioeconomic status and cognition from a genome-wide study of 305,401 subjects
Wu, Xin-Rui, Wu, Bang-Sheng, Kang, Ju-Jiao, Chen, Li-Min, Deng, Yue-Ting, Chen, Shi-Dong, Dong, Qiang, Feng, Jian-Feng, Cheng, Wei, Yu, Jin-Tai
Published in Molecular psychiatry (01.03.2025)
Published in Molecular psychiatry (01.03.2025)
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