Human Mutation

Number of times cited: 118

• Michael A. Iacocca and Robert A. Hegele, Role of DNA copy number variation in dyslipidemias, Current Opinion in Lipidology, 29, 2, (125), (2018).
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• Kateryna Shebanits, Johanna C. Andersson-Assarsson, Ingrid Larsson, Lena M. S. Carlsson, Lars Feuk, Dan Larhammar and Cheng Hu, Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference, PLOS ONE, 13, 4, (e0194668), (2018).
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• Kathryn B. Manheimer, Felix Richter, Lisa J. Edelmann, Sunita L. D’Souza, Lisong Shi, Yufeng Shen, Jason Homsy, Marko T. Boskovski, Angela C. Tai, Joshua Gorham, Christopher Yasso, Elizabeth Goldmuntz, Martina Brueckner, Richard P. Lifton, Wendy K. Chung, Christine E. Seidman, J. G. Seidman and Bruce D. Gelb, Robust identification of mosaic variants in congenital heart disease, Human Genetics, 10.1007/s00439-018-1871-6, 137, 2, (183-193), (2018).
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• Kalthoum Tizaoui, De novo vs. inherited copy number variations in multiple sclerosis susceptibility, Cellular and Molecular Immunology, (2018).
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• Amy R. Klegarth and Dan T. A. Eisenberg, Copy number variants (CNV), The International Encyclopedia of Biological Anthropology, (1-2), (2018).
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• C. A. Castellani, M. G. Melka, J. L. Gui, A. J. Gallo, R. L. O’Reilly and S. M. Singh, Post-zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia, Clinical and Translational Medicine, 6, 1, (2017).
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• Jialing He, Yingjun Xie, Shu Kong, Wenjun Qiu, Xiaoman Wang, Ding Wang, Xiaofang Sun and Deming Sun, Psychomotor retardation with a 1q42.11–q42.12 deletion, Hereditas, 154, 1, (2017).
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• Michael J. McConnell, John V. Moran, Alexej Abyzov, Schahram Akbarian, Taejeong Bae, Isidro Cortes-Ciriano, Jennifer A. Erwin, Liana Fasching, Diane A. Flasch, Donald Freed, Javier Ganz, Andrew E. Jaffe, Kenneth Y. Kwan, Minseok Kwon, Michael A. Lodato, Ryan E. Mills, Apua C. M. Paquola, Rachel E. Rodin, Chaggai Rosenbluh, Nenad Sestan, Maxwell A. Sherman, Joo Heon Shin, Saera Song, Richard E. Straub, Jeremy Thorpe, Daniel R. Weinberger, Alexander E. Urban, Bo Zhou, Fred H. Gage, Thomas Lehner, Geetha Senthil, Christopher A. Walsh, Andrew Chess, Eric Courchesne, Joseph G. Gleeson, Jeffrey M. Kidd, Peter J. Park, Jonathan Pevsner and Flora M. Vaccarino, Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network, Science, 10.1126/science.aal1641, 356, 6336, (eaal1641), (2017).
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• Maria S. Nazarenko, Aleksei A. Sleptcov, Igor N. Lebedev, Nikolay A. Skryabin, Anton V. Markov, Maria V. Golubenko, Iuliia A. Koroleva, Anton N. Kazancev, Olga L. Barbarash and Valery P. Puzyrev, Genomic structural variations for cardiovascular and metabolic comorbidity, Scientific Reports, 7, (41268), (2017).
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• Alexej Abyzov, Livia Tomasini, Bo Zhou, Nikolaos Vasmatzis, Gianfilippo Coppola, Mariangela Amenduni, Reenal Pattni, Michael Wilson, Mark Gerstein, Sherman Weissman, Alexander E. Urban and Flora M. Vaccarino, One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin, Genome Research, 27, 4, (512), (2017).
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• Grace Chappell, Grace O. Silva, Takeki Uehara, Igor P. Pogribny and Ivan Rusyn, Characterization of copy number alterations in a mouse model of fibrosis‐associated hepatocellular carcinoma reveals concordance with human disease, Cancer Medicine, 5, 3, (574-585), (2016).
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• Donatella Conconi, Serena Redaelli, Giorgio Bovo, Biagio Eugenio Leone, Emanuela Filippi, Luciana Ambrosiani, Maria Grazia Cerrito, Emanuela Grassilli, Roberto Giovannoni, Leda Dalprà and Marialuisa Lavitrano, Unexpected frequency of genomic alterations in histologically normal colonic tissue from colon cancer patients, Tumor Biology, 37, 10, (13831), (2016).
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• Y. B. Yurov, S. G. Vorsanova, I. A. Demidova, V. S. Kravets, V. M. Vostrikov, I. V. Soloviev, N. A. Uranova and I. Y. Iourov, Genomic instability in the brain: chromosomal mosaicism in schizophrenia, Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 116, 11, (86), (2016).
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• Ruan Peng, Yi Zhou, Hong‐Ning Xie, Ju Zheng, Ying‐Jun Xie and Jian‐Bo Yang, MCDA twins with discordant malformations: submicroscopic chromosomal anomalies detected by chromosomal microarray analysis and clinical outcomes, Prenatal Diagnosis, 36, 8, (766-774), (2016).
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• Irene Mademont-Soler, Mel·lina Pinsach-Abuin, Helena Riuró, Jesus Mates, Alexandra Pérez-Serra, Mònica Coll, José Manuel Porres, Bernat del Olmo, Anna Iglesias, Elisabet Selga, Ferran Picó, Sara Pagans, Carles Ferrer-Costa, Geòrgia Sarquella-Brugada, Elena Arbelo, Sergi Cesar, Josep Brugada, Óscar Campuzano, Ramon Brugada and Chunhua Song, Large Genomic Imbalances in Brugada Syndrome, PLOS ONE, 11, 9, (e0163514), (2016).
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• Ning Zhang, Meng Wang, Peiwei Zhang and Tao Huang, Classification of cancers based on copy number variation landscapes, Biochimica et Biophysica Acta (BBA) - General Subjects, 1860, 11, (2750), (2016).
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• Saumya S. Jamuar, Alissa M. D'Gama and Christopher A. Walsh, Somatic Mosaicism and Neurological Diseases, Genomics, Circuits, and Pathways in Clinical Neuropsychiatry, 10.1016/B978-0-12-800105-9.00012-3, (179-199), (2016).
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• Charles Gawad, Winston Koh and Stephen R. Quake, Single-cell genome sequencing: current state of the science, Nature Reviews Genetics, 17, 3, (175), (2016).
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• Anders Valind, C. Haikal, M. E. K. Klasson, M. C. Johansson, J. Gullander, M. Soller, B. Baldetorp and David Gisselsson, The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement, Scientific Reports, 6, 1, (2016).
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• C. Sidler, Genomic Instability and Aging, Genome Stability, 10.1016/B978-0-12-803309-8.00029-X, (511-525), (2016).
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• Zara Hannoun, Clara Steichen, Noushin Dianat, Anne Weber and Anne Dubart-Kupperschmitt, The potential of induced pluripotent stem cell derived hepatocytes, Journal of Hepatology, 10.1016/j.jhep.2016.02.025, 65, 1, (182-199), (2016).
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• In-Wha Kim, Nayoung Han, Myeong Gyu Kim, Therasa Kim and Jung Mi Oh, Copy number variability analysis of pharmacogenes in patients with lymphoma, leukemia, hepatocellular, and lung carcinoma using The Cancer Genome Atlas data, Pharmacogenetics and Genomics, 25, 1, (1), (2015).
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• Anna Ronowicz, Anna Janaszak‐Jasiecka, Jarosław Skokowski, Piotr Madanecki, Rafal Bartoszewski, Magdalena Bałut, Barbara Seroczyńska, Kinga Kochan, Adam Bogdan, Małgorzata Butkus, Rafał Pęksa, Magdalena Ratajska, Alina Kuźniacka, Bartosz Wasąg, Magdalena Gucwa, Maciej Krzyżanowski, Janusz Jaśkiewicz, Zbigniew Jankowski, Lars Forsberg, J. Renata Ochocka, Janusz Limon, Michael R. Crowley, Patrick G. Buckley, Ludwine Messiaen, Jan P. Dumanski and Arkadiusz Piotrowski, Concurrent DNA Copy‐Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients, Human Mutation, 36, 11, (1088-1099), (2015).
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• Teck Wah Ting, Raveen Shahdadpuri and Saumya Shekhar Jamuar, Mosaicism in Traditional Mendelian Diseases, Current Genetic Medicine Reports, 10.1007/s40142-015-0071-0, 3, 3, (101-109), (2015).
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• Mitchell J. Machiela, Weiyin Zhou, Joshua N. Sampson, Michael C. Dean, Kevin B. Jacobs, Amanda Black, Louise A. Brinton, I-Shou Chang, Chu Chen, Constance Chen, Kexin Chen, Linda S. Cook, Marta Crous Bou, Immaculata De Vivo, Jennifer Doherty, Christine M. Friedenreich, Mia M. Gaudet, Christopher A. Haiman, Susan E. Hankinson, Patricia Hartge, Brian E. Henderson, Yun-Chul Hong, H. Dean Hosgood, Chao A. Hsiung, Wei Hu, David J. Hunter, Lea Jessop, Hee Nam Kim, Yeul Hong Kim, Young Tae Kim, Robert Klein, Peter Kraft, Qing Lan, Dongxin Lin, Jianjun Liu, Loic Le Marchand, Xiaolin Liang, Jolanta Lissowska, Lingeng Lu, Anthony M. Magliocco, Keitaro Matsuo, Sara H. Olson, Irene Orlow, Jae Yong Park, Loreall Pooler, Jennifer Prescott, Radhai Rastogi, Harvey A. Risch, Fredrick Schumacher, Adeline Seow, Veronica Wendy Setiawan, Hongbing Shen, Xin Sheng, Min-Ho Shin, Xiao-Ou Shu, David VanDen Berg, Jiu-Cun Wang, Nicolas Wentzensen, Maria Pik Wong, Chen Wu, Tangchun Wu, Yi-Long Wu, Lucy Xia, Hannah P. Yang, Pan-Chyr Yang, Wei Zheng, Baosen Zhou, Christian C. Abnet, Demetrius Albanes, Melinda C. Aldrich, Christopher Amos, Laufey T. Amundadottir, Sonja I. Berndt, William J. Blot, Cathryn H. Bock, Paige M. Bracci, Laurie Burdett, Julie E. Buring, Mary A. Butler, Tania Carreón, Nilanjan Chatterjee, Charles C. Chung, Michael B. Cook, Michael Cullen, Faith G. Davis, Ti Ding, Eric J. Duell, Caroline G. Epstein, Jin-Hu Fan, Jonine D. Figueroa, Joseph F. Fraumeni, Neal D. Freedman, Charles S. Fuchs, Yu-Tang Gao, Susan M. Gapstur, Ana Patiño-Garcia, Montserrat Garcia-Closas, J. Michael Gaziano, Graham G. Giles, Elizabeth M. Gillanders, Edward L. Giovannucci, Lynn Goldin, Alisa M. Goldstein, Mark H. Greene, Goran Hallmans, Curtis C. Harris, Roger Henriksson, Elizabeth A. Holly, Robert N. Hoover, Nan Hu, Amy Hutchinson, Mazda Jenab, Christoffer Johansen, Kay-Tee Khaw, Woon-Puay Koh, Laurence N. Kolonel, Charles Kooperberg, Vittorio Krogh, Robert C. Kurtz, Andrea LaCroix, Annelie Landgren, Maria Teresa Landi, Donghui Li, Linda M. Liao, Nuria Malats, Katherine A. McGlynn, Lorna H. McNeill, Robert R. McWilliams, Beatrice S. Melin, Lisa Mirabello, Beata Peplonska, Ulrike Peters, Gloria M. Petersen, Ludmila Prokunina-Olsson, Mark Purdue, You-Lin Qiao, Kari G. Rabe, Preetha Rajaraman, Francisco X. Real, Elio Riboli, Benjamín Rodríguez-Santiago, Nathaniel Rothman, Avima M. Ruder, Sharon A. Savage, Ann G. Schwartz, Kendra L. Schwartz, Howard D. Sesso, Gianluca Severi, Debra T. Silverman, Margaret R. Spitz, Victoria L. Stevens, Rachael Stolzenberg-Solomon, Daniel Stram, Ze-Zhong Tang, Philip R. Taylor, Lauren R. Teras, Geoffrey S. Tobias, Kala Viswanathan, Sholom Wacholder, Zhaoming Wang, Stephanie J. Weinstein, William Wheeler, Emily White, John K. Wiencke, Brian M. Wolpin, Xifeng Wu, Jay S. Wunder, Kai Yu, Krista A. Zanetti, Anne Zeleniuch-Jacquotte, Regina G. Ziegler, Mariza de Andrade, Kathleen C. Barnes, Terri H. Beaty, Laura J. Bierut, Karl C. Desch, Kimberly F. Doheny, Bjarke Feenstra, David Ginsburg, John A. Heit, Jae H. Kang, Cecilia A. Laurie, Jun Z. Li, William L. Lowe, Mary L. Marazita, Mads Melbye, Daniel B. Mirel, Jeffrey C. Murray, Sarah C. Nelson, Louis R. Pasquale, Kenneth Rice, Janey L. Wiggs, Anastasia Wise, Margaret Tucker, Luis A. Pérez-Jurado, Cathy C. Laurie, Neil E. Caporaso, Meredith Yeager and Stephen J. Chanock, Characterization of Large Structural Genetic Mosaicism in Human Autosomes, The American Journal of Human Genetics, 96, 3, (487), (2015).
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• Abdel Abdellaoui, Erik A. Ehli, Jouke-Jan Hottenga, Zachary Weber, Hamdi Mbarek, Gonneke Willemsen, Toos van Beijsterveldt, Andrew Brooks, Jim J. Hudziak, Patrick F. Sullivan, Eco J. de Geus, Gareth E. Davies and Dorret I. Boomsma, CNV Concordance in 1,097 MZ Twin Pairs, Twin Research and Human Genetics, 18, 01, (1), (2015).
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• Johanna Winberg, Håkan Berggren, Torsten Malm, Sune Johansson, Jens Johansson Ramgren, Boris Nilsson, Agne Liedén, Agneta Nordenskjöld, Peter Gustavsson and Ann Nordgren, No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations, European Journal of Medical Genetics, 58, 3, (129), (2015).
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• Hongzhu Cui, Andi Dhroso, Nathan Johnson and Dmitry Korkin, The variation game: Cracking complex genetic disorders with NGS and omics data, Methods, 10.1016/j.ymeth.2015.04.018, 79-80, (18-31), (2015).
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• Olga Žilina, Marina Koltšina, Raivo Raid, Ants Kurg, Neeme Tõnisson and Andres Salumets, Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome, BMC Genomics, 16, 1, (2015).
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• Wenge Li, R. Brent Calder, Jessica C. Mar and Jan Vijg, Single-cell transcriptogenomics reveals transcriptional exclusion of ENU-mutated alleles, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 772, (55), (2015).
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• Junho Kim, Jong-Yeon Shin, Jong-Il Kim, Jeong-Sun Seo, Maree J. Webster, Doheon Lee and Sanghyeon Kim, Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls, Scientific Reports, 4, 1, (2015).
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• Ivan Y. Iourov, Svetlana G. Vorsanova, Maria A. Zelenova, Sergei A. Korostelev and Yuri B. Yurov, Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism, International Journal of Genomics, 10.1155/2015/757680, 2015, (1-7), (2015).
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• Miwako Sakai, Yuichiro Watanabe, Toshiyuki Someya, Kazuaki Araki, Masako Shibuya, Kazuhiro Niizato, Kenichi Oshima, Yasuto Kunii, Hirooki Yabe, Junya Matsumoto, Akira Wada, Mizuki Hino, Takeshi Hashimoto, Akitoyo Hishimoto, Noboru Kitamura, Shuji Iritani, Osamu Shirakawa, Kiyoshi Maeda, Akinori Miyashita, Shin-ichi Niwa, Hitoshi Takahashi, Akiyoshi Kakita, Ryozo Kuwano and Hiroyuki Nawa, Assessment of copy number variations in the brain genome of schizophrenia patients, Molecular Cytogenetics, 10.1186/s13039-015-0144-5, 8, 1, (2015).
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• A. A. Sleptsov, M. S. Nazarenko, I. N. Lebedev, N. A. Skryabin, A. V. Frolov, V. A. Popov, O. L. Barbarash, L. S. Barbarash and V. P. Puzyrev, Somatic genome variations in vascular tissues and peripheral blood leukocytes in patients with atherosclerosis, Russian Journal of Genetics, 50, 8, (870), (2014).
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• Jan Vijg, Somatic mutations, genome mosaicism, cancer and aging, Current Opinion in Genetics & Development, 10.1016/j.gde.2014.04.002, 26, (141-149), (2014).
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• Deepti Diwan, Shun Komazaki, Miho Suzuki, Naoto Nemoto, Takuyo Aita, Akiko Satake and Koichi Nishigaki, Systematic genome sequence differences among leaf cells within individual trees, BMC Genomics, 15, 1, (142), (2014).
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• Donald Freed, Eric Stevens and Jonathan Pevsner, Somatic Mosaicism in the Human Genome, Genes, 5, 4, (1064), (2014).
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• Ruth B. McCole, Chamith Y. Fonseka, Amnon Koren, C.-ting Wu and Katherine S. Pollard, Abnormal Dosage of Ultraconserved Elements Is Highly Disfavored in Healthy Cells but Not Cancer Cells, PLoS Genetics, 10, 10, (e1004646), (2014).
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• Christos Proukakis, Henry Houlden and Anthony H. Schapira, Somatic alpha‐synuclein mutations in Parkinson's disease: Hypothesis and preliminary data, Movement Disorders, 28, 6, (705-712), (2013).
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• Michael J. McConnell and Fred H. Gage, Neuronal Genomic and Epigenetic Diversity, Epigenetic Regulation in the Nervous System, 10.1016/B978-0-12-391494-1.00011-2, (281-298), (2013).
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• Philip Ginsbach, Bowang Chen, Yanxiang Jiang, Stefan Engelter and Caspar Grond-Ginsbach, Copy Number Studies in Noisy Samples, Microarrays, 2, 4, (284), (2013).
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• K Ezawa and H Innan, Theoretical framework of population genetics with somatic mutations taken into account: application to copy number variations in humans, Heredity, 111, 5, (364), (2013).
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• Lars Anders Forsberg, Devin Absher and Jan Piotr Dumanski, Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime, Postgraduate Medical Journal, 89, 1053, (417), (2013).
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• Hamid Reza Razzaghian, Lars A. Forsberg, Kancherla Reddy Prakash, Szymon Przerada, Hanna Paprocka, Anna Zywicka, Maxwell P. Westerman, Nancy L. Pedersen, Terrance P. O'Hanlon, Lisa G. Rider, Frederick W. Miller, Ewa Srutek, Michal Jankowski, Wojciech Zegarski, Arkadiusz Piotrowski, Devin Absher, Jan P. Dumanski and Tatjana Adamovic, Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes, PLoS ONE, 8, 9, (e67752), (2013).
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• M. J. McConnell, M. R. Lindberg, K. J. Brennand, J. C. Piper, T. Voet, C. Cowing-Zitron, S. Shumilina, R. S. Lasken, J. R. Vermeesch, I. M. Hall and F. H. Gage, Mosaic Copy Number Variation in Human Neurons, Science, 342, 6158, (632), (2013).
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• Jan Vijg and Yousin Suh, Genome Instability and Aging, Annual Review of Physiology, 75, 1, (645), (2013).
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• Sebastiaan van Heesch, Michal Mokry, Veronika Boskova, Wade Junker, Rajdeep Mehon, Pim Toonen, Ewart de Bruijn, James D Shull, Timothy J Aitman, Edwin Cuppen and Victor Guryev, Systematic biases in DNA copy number originate from isolation procedures, Genome Biology, 14, 4, (R33), (2013).
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• Seung-Hyun Jung, Seon-Hee Yim, Hyun Oh, Jung Park, Min Kim, Geon A Kim, Tae-Min Kim, Jin-Soo Kim, Byeong Lee and Yeun-Jun Chung, De novo copy number variations in cloned dogs from the same nuclear donor, BMC Genomics, 14, 1, (863), (2013).
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• Maeve O’Huallachain, Sherman M. Weissman and Michael P. Snyder, The variable somatic genome, Cell Cycle, 12, 1, (5), (2013).
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• Jose E. Belizário and A.J. Hilliker, The humankind genome: from genetic diversity to the origin of human diseases, Genome, 10.1139/gen-2013-0125, 56, 12, (705-716), (2013).
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• Masood Bazrgar, Hamid Gourabi, Mojtaba Rezazadeh Valojerdi, Poopak Eftekhari Yazdi and Hossein Baharvand, Self-Correction of Chromosomal Abnormalities in Human Preimplantation Embryos and Embryonic Stem Cells, Stem Cells and Development, 10.1089/scd.2013.0053, 22, 17, (2449-2456), (2013).
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• Julia Vogt, Tanja Mussotter, Kathrin Bengesser, Kathleen Claes, Josef Högel, Nadia Chuzhanova, Chuanhua Fu, Jenneke van den Ende, Victor‐Felix Mautner, David N. Cooper, Ludwine Messiaen and Hildegard Kehrer‐Sawatzki, Identification of recurrent type‐2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder, Human Mutation, 33, 11, (1599-1609), (2012).
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• J.L. Santos, E. Saus, S.V. Smalley, L.R. Cataldo, G. Alberti, J. Parada, M. Gratacòs and X. Estivill, Copy Number Polymorphism of the Salivary Amylase Gene: Implications in Human Nutrition Research, Journal of Nutrigenetics and Nutrigenomics, 5, 3, (117), (2012).
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• T. Revay and W.A. King, Sister Chromatid Exchange Assessment by Chromosome Orientation-Fluorescence in situ Hybridization on the Bovine Sex Chromosomes and Autosomes 16 and 26, Cytogenetic and Genome Research, 10.1159/000335749, 136, 2, (107-116), (2012).
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• Caroline Robberecht, Thierry Voet, Gülen E Utine, Albert Schinzel, Nicole de Leeuw, Jean-Pierre Fryns and Joris Vermeesch, Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism, Molecular Cytogenetics, 5, 1, (19), (2012).
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• Deepak K. Singh and Pramod C. Rath, Long interspersed nuclear elements (LINEs) show tissue-specific, mosaic genome and methylation-unrestricted, widespread expression of noncoding RNAs in somatic tissues of the rat, RNA Biology, 10.4161/rna.22402, 9, 11, (1380-1396), (2014).
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• Roger Pamphlett, Julia M. Morahan, Natasha Luquin and Bing Yu, An approach to finding brain-situated mutations in sporadic Parkinson's disease, Parkinsonism & Related Disorders, 18, 1, (82), (2012).
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• Gholson J Lyon and Kai Wang, Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress, Genome Medicine, 10.1186/gm359, 4, 7, (58), (2012).
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• Aaron R. Quinlan and Ira M. Hall, Characterizing complex structural variation in germline and somatic genomes, Trends in Genetics, 28, 1, (43), (2012).
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• M. O'Huallachain, K. J. Karczewski, S. M. Weissman, A. E. Urban and M. P. Snyder, Extensive genetic variation in somatic human tissues, Proceedings of the National Academy of Sciences, 109, 44, (18018), (2012).
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• Danielle Veenma, Erwin Brosens, Elisabeth de Jong, Cees van de Ven, Connie Meeussen, Titia Cohen-Overbeek, Marjan Boter, Hubertus Eussen, Hannie Douben, Dick Tibboel and Annelies de Klein, Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts, European Journal of Human Genetics, 20, 3, (298), (2012).
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• Witold Czyz, Julia M Morahan, George C Ebers and Sreeram V Ramagopalan, Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences, BMC Medicine, 10.1186/1741-7015-10-93, 10, 1, (2012).
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• Nestor L. Lopez Corrales, Kristin Mrasek, Martin Voigt, Thomas Liehr and Nadezda Kosyakova, Copy number variations (CNVs) in human pluripotent cell-derived neuroprogenitors, Gene, 506, 2, (377), (2012).
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• Evan Charney, Behavior genetics and postgenomics, Behavioral and Brain Sciences, 10.1017/S0140525X11002226, 35, 05, (331-358), (2012).
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• Peter Konings, Evelyne Vanneste, Sigrun Jackmaert, Michèle Ampe, Geert Verbeke, Yves Moreau, Joris Robert Vermeesch and Thierry Voet, Microarray analysis of copy number variation in single cells, Nature Protocols, 7, 2, (281), (2012).
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• Lars A. Forsberg, Chiara Rasi, Hamid R. Razzaghian, Geeta Pakalapati, Lindsay Waite, Krista Stanton Thilbeault, Anna Ronowicz, Nathan E. Wineinger, Hemant K. Tiwari, Dorret Boomsma, Maxwell P. Westerman, Jennifer R. Harris, Robert Lyle, Magnus Essand, Fredrik Eriksson, Themistocles L. Assimes, Carlos Iribarren, Eric Strachan, Terrance P. O'Hanlon, Lisa G. Rider, Frederick W. Miller, Vilmantas Giedraitis, Lars Lannfelt, Martin Ingelsson, Arkadiusz Piotrowski, Nancy L. Pedersen, Devin Absher and Jan P. Dumanski, Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells, The American Journal of Human Genetics, 90, 2, (217), (2012).
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• Zhiyong Pan, Jianyong An, Wenfang Zeng, Shunyuan Xiao and Xiuxin Deng, Array-comparative genome hybridization reveals genome variations between a citrus bud mutant and its parental cultivar, Tree Genetics & Genomes, 8, 6, (1379), (2012).
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• Martin F Arlt, Thomas E Wilson and Thomas W Glover, Replication stress and mechanisms of CNV formation, Current Opinion in Genetics & Development, 22, 3, (204), (2012).
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• Alexej Abyzov, Jessica Mariani, Dean Palejev, Ying Zhang, Michael Seamus Haney, Livia Tomasini, Anthony F. Ferrandino, Lior A. Rosenberg Belmaker, Anna Szekely, Michael Wilson, Arif Kocabas, Nathaniel E. Calixto, Elena L. Grigorenko, Anita Huttner, Katarzyna Chawarska, Sherman Weissman, Alexander Eckehart Urban, Mark Gerstein and Flora M. Vaccarino, Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells, Nature, 492, 7429, (438), (2012).
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• Richard F. Wintle, Anath C. Lionel, Pingzhao Hu, Stephen D. Ginsberg, Dalila Pinto, Bhooma Thiruvahindrapduram, John Wei, Christian R. Marshall, Jane Pickett, Edwin H. Cook and Stephen W. Scherer, A genotype resource for postmortem brain samples from the Autism Tissue Program, Autism Research, 4, 2, (89-97), (2011).
  Wiley Online Library
• MH Willemsen, G Beunders, M Callaghan, N de Leeuw, WM Nillesen, HG Yntema, JM van Hagen, AWM Nieuwint, N Morrison, STM Keijzers‐Vloet, A Hoischen, HG Brunner, J Tolmie and T Kleefstra, Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions, Clinical Genetics, 80, 1, (31-38), (2011).
  Wiley Online Library
• Christian Herder and Michael Roden, Genetics of type 2 diabetes: pathophysiologic and clinical relevance, European Journal of Clinical Investigation, 41, 6, (679-692), (2010).
  Wiley Online Library
• John C.K. Barber, Shuwen Huang, Mark S. Bateman and Amanda L. Collins, Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?, American Journal of Medical Genetics Part A, 155, 11, (2807-2815), (2011).
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