Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis
Bae, Taejeong, Tomasini, Livia, Mariani, Jessica, Zhou, Bo, Roychowdhury, Tanmoy, Franjic, Daniel, Pletikos, Mihovil, Pattni, Reenal, Chen, Bo-Juen, Venturini, Elisa, Riley-Gillis, Bridget, Sestan, Nenad, Urban, Alexander E, Abyzov, Alexej, Vaccarino, Flora M
Published in Science (American Association for the Advancement of Science) (02.02.2018)
Published in Science (American Association for the Advancement of Science) (02.02.2018)
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Hyperexcitable arousal circuits drive sleep instability during aging
Li, Shi-Bin, Damonte, Valentina Martinez, Chen, Chong, Wang, Gordon X, Kebschull, Justus M, Yamaguchi, Hiroshi, Bian, Wen-Jie, Purmann, Carolin, Pattni, Reenal, Urban, Alexander Eckehart, Mourrain, Philippe, Kauer, Julie A, Scherrer, Grégory, de Lecea, Luis
Published in Science (American Association for the Advancement of Science) (25.02.2022)
Published in Science (American Association for the Advancement of Science) (25.02.2022)
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Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
Bae, Taejeong, Fasching, Liana, Wang, Yifan, Shin, Joo Heon, Suvakov, Milovan, Jang, Yeongjun, Norton, Scott, Dias, Caroline, Mariani, Jessica, Jourdon, Alexandre, Wu, Feinan, Panda, Arijit, Pattni, Reenal, Chahine, Yasmine, Yeh, Rebecca, Roberts, Rosalinda C, Huttner, Anita, Kleinman, Joel E, Hyde, Thomas M, Straub, Richard E, Walsh, Christopher A, Urban, Alexander E, Leckman, James F, Weinberger, Daniel R, Vaccarino, Flora M, Abyzov, Alexej
Published in Science (American Association for the Advancement of Science) (29.07.2022)
Published in Science (American Association for the Advancement of Science) (29.07.2022)
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Somatic mosaicism reveals clonal distributions of neocortical development
Breuss, Martin W., Yang, Xiaoxu, Schlachetzki, Johannes C. M., Antaki, Danny, Lana, Addison J., Xu, Xin, Chung, Changuk, Chai, Guoliang, Stanley, Valentina, Song, Qiong, Newmeyer, Traci F., Nguyen, An, O’Brien, Sydney, Hoeksema, Marten A., Cao, Beibei, Nott, Alexi, McEvoy-Venneri, Jennifer, Pasillas, Martina P., Barton, Scott T., Copeland, Brett R., Nahas, Shareef, Van Der Kraan, Lucitia, Ding, Yan, Glass, Christopher K., Gleeson, Joseph G.
Published in Nature (London) (28.04.2022)
Published in Nature (London) (28.04.2022)
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Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons
Zhang, Siming, Zhang, Xianglong, Purmann, Carolin, Ma, Shining, Shrestha, Anima, Davis, Kasey N., Ho, Marcus, Huang, Yiling, Pattni, Reenal, Wong, Wing Hung, Bernstein, Jonathan A., Hallmayer, Joachim, Urban, Alexander E.
Published in Biological psychiatry (1969) (01.03.2021)
Published in Biological psychiatry (1969) (01.03.2021)
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Increased activation product of complement 4 protein in plasma of individuals with schizophrenia
Kalinowski, Agnieszka, Liliental, Joanna, Anker, Lauren A., Linkovski, Omer, Culbertson, Collin, Hall, Jacob N., Pattni, Reenal, Sabatti, Chiara, Noordsy, Douglas, Hallmayer, Joachim F., Mellins, Elizabeth D., Ballon, Jacob S., O’Hara, Ruth, Levinson, Douglas F., Urban, Alexander E.
Published in Translational psychiatry (22.09.2021)
Published in Translational psychiatry (22.09.2021)
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Comprehensive identification of somatic nucleotide variants in human brain tissue
Wang, Yifan, Bae, Taejeong, Thorpe, Jeremy, Sherman, Maxwell A, Jones, Attila G, Cho, Sean, Daily, Kenneth, Dou, Yanmei, Ganz, Javier, Galor, Alon, Lobon, Irene, Pattni, Reenal, Rosenbluh, Chaggai, Tomasi, Simone, Tomasini, Livia, Yang, Xiaoxu, Zhou, Bo, Akbarian, Schahram, Ball, Laurel L, Bizzotto, Sara, Emery, Sarah B, Doan, Ryan, Fasching, Liana, Jang, Yeongjun, Juan, David, Lizano, Esther, Luquette, Lovelace J, Moldovan, John B, Narurkar, Rujuta, Oetjens, Matthew T, Rodin, Rachel E, Sekar, Shobana, Shin, Joo Heon, Soriano, Eduardo, Straub, Richard E, Zhou, Weichen, Chess, Andrew, Gleeson, Joseph G, Marquès-Bonet, Tomas, Park, Peter J, Peters, Mette A, Pevsner, Jonathan, Walsh, Christopher A, Weinberger, Daniel R, Vaccarino, Flora M, Moran, John V, Urban, Alexander E, Kidd, Jeffrey M, Mills, Ryan E, Abyzov, Alexej
Published in Genome Biology (29.03.2021)
Published in Genome Biology (29.03.2021)
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Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15
King, Kathy, Sheikh, Mohammed F., Cuthbert, Andrew P., Fisher, Sheila A., Onnie, Clive M., Mirza, Muddassar M., Pattni, Reenal C., Sanderson, Jeremy, Forbes, Alastair, Mansfield, John, Lewis, Cathryn M., Roberts, Roland G., Mathew, Christopher G.
Published in Human mutation (01.01.2006)
Published in Human mutation (01.01.2006)
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Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis
Zhou, Bo, Ho, Steve S, Zhang, Xianglong, Pattni, Reenal, Haraksingh, Rajini R, Urban, Alexander E
Published in Journal of medical genetics (01.11.2018)
Published in Journal of medical genetics (01.11.2018)
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Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage
Zhang, Xianglong, Hong, David, Ma, Shining, Ward, Thomas, Ho, Marcus, Pattni, Reenal, Duren, Zhana, Stankov, Atanas, Shrestha, Sharon Bade, Hallmayer, Joachim, Wong, Wing Hung, Reiss, Allan L., Urban, Alexander E.
Published in Proceedings of the National Academy of Sciences - PNAS (03.03.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (03.03.2020)
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One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin
Abyzov, Alexej, Tomasini, Livia, Zhou, Bo, Vasmatzis, Nikolaos, Coppola, Gianfilippo, Amenduni, Mariangela, Pattni, Reenal, Wilson, Michael, Gerstein, Mark, Weissman, Sherman, Urban, Alexander E, Vaccarino, Flora M
Published in Genome research (01.04.2017)
Published in Genome research (01.04.2017)
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Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562
Zhou, Bo, Ho, Steve S, Greer, Stephanie U, Zhu, Xiaowei, Bell, John M, Arthur, Joseph G, Spies, Noah, Zhang, Xianglong, Byeon, Seunggyu, Pattni, Reenal, Ben-Efraim, Noa, Haney, Michael S, Haraksingh, Rajini R, Song, Giltae, Ji, Hanlee P, Perrin, Dimitri, Wong, Wing H, Abyzov, Alexej, Urban, Alexander E
Published in Genome research (01.03.2019)
Published in Genome research (01.03.2019)
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Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2
Zhou, Bo, Ho, Steve S, Greer, Stephanie U, Spies, Noah, Bell, John M, Zhang, Xianglong, Zhu, Xiaowei, Arthur, Joseph G, Byeon, Seunggyu, Pattni, Reenal, Saha, Ishan, Huang, Yiling, Song, Giltae, Perrin, Dimitri, Wong, Wing H, Ji, Hanlee P, Abyzov, Alexej, Urban, Alexander E
Published in Nucleic acids research (07.05.2019)
Published in Nucleic acids research (07.05.2019)
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80. IMPLICATION OF COMPLEX STRUCTURAL GENOME VARIATION IN THE GENETIC ARCHITECTURE OF NEUROPSYCHIATRIC DISORDERS: INSIGHTS FROM HUMAN POPULATION ANALYSIS AND FROM POSTMORTEM BRAINS OF INDIVIDUALS WITH PSYCHIATRIC DISORDERS
Zhou, Bo, Arthur, Joseph, Guo, Hanmin, Kim, Taeyoung, Huang, Yiling, Pattni, Reenal, Song, Giltae, Palejev, Dean, Dohna, Heinrich, Roussos, Panos, Kundaje, Anshul, Hallmayer, Joachim, Snyder, Michael, Wong, Wing, Urban, Alexander
Published in European neuropsychopharmacology (01.10.2024)
Published in European neuropsychopharmacology (01.10.2024)
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Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
Zhou, Bo, Purmann, Carolin, Guo, Hanmin, Shin, GiWon, Huang, Yiling, Pattni, Reenal, Meng, Qingxi, Greer, Stephanie U, Roychowdhury, Tanmoy, Wood, Raegan N, Ho, Marcus, Dohna, Heinrich Zu, Abyzov, Alexej, Hallmayer, Joachim F, Wong, Wing H, Ji, Hanlee P, Urban, Alexander E
Published in Proceedings of the National Academy of Sciences - PNAS (30.07.2024)
Published in Proceedings of the National Academy of Sciences - PNAS (30.07.2024)
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81. RESOLVING THE EXACT BREAKPOINTS AND SEQUENCE REARRANGEMENTS OF LARGE NEUROPSYCHIATRIC COPY NUMBER VARIATIONS (CNVS) AT SINGLE BASE-PAIR RESOLUTION USING CRISPR-TARGETED ULTRA-LONG READ SEQUENCING (CTLR-SEQ)
Zhou, Bo, Shin, GiWon, Vervoort, Lisanne, Greer, Stephanie, Huang, Yiling, Roychowdhury, Tanmoy, Pattni, Reenal, Abyzov, Alexej, Vermeesch, Joris, Ji, Hanlee, Urban, Alexander
Published in European neuropsychopharmacology (01.10.2022)
Published in European neuropsychopharmacology (01.10.2022)
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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Chung, Changuk, Yang, Xiaoxu, Bae, Taejeong, Vong, Keng Ioi, Mittal, Swapnil, Donkels, Catharina, Westley Phillips, H., Li, Zhen, Marsh, Ashley P. L., Breuss, Martin W., Ball, Laurel L., Garcia, Camila Araújo Bernardino, George, Renee D., Gu, Jing, Xu, Mingchu, Barrows, Chelsea, James, Kiely N., Stanley, Valentina, Nidhiry, Anna S., Khoury, Sami, Howe, Gabrielle, Riley, Emily, Xu, Xin, Copeland, Brett, Wang, Yifan, Kim, Se Hoon, Kang, Hoon-Chul, Schulze-Bonhage, Andreas, Haas, Carola A., Urbach, Horst, Prinz, Marco, Limbrick, David D., Gurnett, Christina A., Smyth, Matthew D., Sattar, Shifteh, Nespeca, Mark, Gonda, David D., Imai, Katsumi, Takahashi, Yukitoshi, Chen, Hsin-Hung, Tsai, Jin-Wu, Conti, Valerio, Guerrini, Renzo, Devinsky, Orrin, Silva, Wilson A., Machado, Helio R., Mathern, Gary W., Abyzov, Alexej, Baldassari, Sara, Baulac, Stéphanie, Gleeson, Joseph G.
Published in Nature genetics (01.02.2023)
Published in Nature genetics (01.02.2023)
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S96SMALL-SCALE SOMATIC STRUCTURAL VARIANTS IN FETAL AND ADULT HUMAN BRAINS
Zhou, Bo, Arthur, Joseph, Pattni, Reenal, Zhu, Xiaowei, Wong, Wing, Urban, Alexander
Published in European neuropsychopharmacology (01.10.2019)
Published in European neuropsychopharmacology (01.10.2019)
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Detection and Quantification of Mosaic Genomic DNA Variation in Primary Somatic Tissues Using ddPCR: Analysis of Mosaic Transposable-Element Insertions, Copy-Number Variants, and Single-Nucleotide Variants
Zhou, Bo, Haney, Michael S, Zhu, Xiaowei, Pattni, Reenal, Abyzov, Alexej, Urban, Alexander E
Published in Methods in molecular biology (Clifton, N.J.) (2018)
Published in Methods in molecular biology (Clifton, N.J.) (2018)
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Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders
Zhou, Bo, Arthur, Joseph G, Guo, Hanmin, Kim, Taeyoung, Huang, Yiling, Pattni, Reenal, Wang, Tao, Kundu, Soumya, Luo, Jay X J, Lee, HoJoon, Nachun, Daniel C, Purmann, Carolin, Monte, Emma M, Weimer, Annika K, Qu, Ping-Ping, Shi, Minyi, Jiang, Lixia, Yang, Xinqiong, Fullard, John F, Bendl, Jaroslav, Girdhar, Kiran, Kim, Minsu, Chen, Xi, Greenleaf, William J, Duncan, Laramie, Ji, Hanlee P, Zhu, Xiang, Song, Giltae, Montgomery, Stephen B, Palejev, Dean, Zu Dohna, Heinrich, Roussos, Panos, Kundaje, Anshul, Hallmayer, Joachim F, Snyder, Michael P, Wong, Wing H, Urban, Alexander E
Published in Cell (28.09.2024)
Published in Cell (28.09.2024)
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