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Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance
Baldan, Federica, Demori, Eliana, Gnan, Chiara, Passon, Nadia, Damante, Giuseppe, Mio, Catia, Allegri, Lorenzo, Morgan, Anna, Girotto, Giorgia, De Paoli, Federica, Limongelli, Ivan, Zucca, Susanna, Faletra, Flavio
Published in Gene (15.01.2025)
Published in Gene (15.01.2025)
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Complex evolutionary trajectories of sex chromosomes across bird taxa
Zhou, Qi, Zhang, Jilin, Bachtrog, Doris, An, Na, Huang, Quanfei, Jarvis, Erich D., Gilbert, M. Thomas P., Zhang, Guojie
Published in Science (American Association for the Advancement of Science) (12.12.2014)
Published in Science (American Association for the Advancement of Science) (12.12.2014)
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The metabolic costs of meiotic drive
Bradshaw, Sasha L., Rodríguez, Enrique, Wang, Hanting, Yu, Cyn Thea, De Villiers De La Noue, Cyril, Hafezjee, Aadil, Pomiankowski, Andrew, Camus, M. Florencia
Published in Proceedings of the Royal Society. B, Biological sciences (01.07.2025)
Published in Proceedings of the Royal Society. B, Biological sciences (01.07.2025)
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Complex evolutionary processes maintain an ancient chromosomal inversion
Nosil, Patrik, Soria-Carrasco, Victor, Villoutreix, Romain, De-la-Mora, Marisol, de Carvalho, Clarissa F., Parchman, Thomas, Feder, Jeffrey L., Gompert, Zachariah
Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (20.06.2023)
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BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance
Wang, Yifan, Bernhardy, Andrea J., Nacson, Joseph, Krais, John J., Tan, Yin-Fei, Nicolas, Emmanuelle, Radke, Marc R., Handorf, Elizabeth, Llop-Guevara, Alba, Balmaña, Judith, Swisher, Elizabeth M., Serra, Violeta, Peri, Suraj, Johnson, Neil
Published in Nature communications (11.12.2019)
Published in Nature communications (11.12.2019)
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Adaptation repeatedly uses complex structural genomic variation
Gompert, Zachariah, Feder, Jeffrey L., Parchman, Thomas L., Planidin, Nicholas P., Whiting, Frederick J. H., Nosil, Patrik
Published in Science (American Association for the Advancement of Science) (18.04.2025)
Published in Science (American Association for the Advancement of Science) (18.04.2025)
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Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics
Dong, Zirui, Wang, Huilin, Chen, Haixiao, Jiang, Hui, Yuan, Jianying, Yang, Zhenjun, Wang, Wen-Jing, Xu, Fengping, Guo, Xiaosen, Cao, Ye, Zhu, Zhenzhen, Geng, Chunyu, Cheung, Wan Chee, Kwok, Yvonne K., Yang, Huanming, Leung, Tak Yeung, Morton, Cynthia C., Cheung, Sau Wai, Choy, Kwong Wai
Published in Genetics in medicine (01.07.2018)
Published in Genetics in medicine (01.07.2018)
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Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
Beck, Christine R., Carvalho, Claudia M. B., Banser, Linda, Gambin, Tomasz, Stubbolo, Danielle, Yuan, Bo, Sperle, Karen, McCahan, Suzanne M., Henneke, Marco, Seeman, Pavel, Garbern, James Y., Hobson, Grace M., Lupski, James R.
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene
Gray, Juliette, Yeo, Giles S.H., Cox, James J., Morton, Jenny, Adlam, Anna-Lynne R., Keogh, Julia M., Yanovski, Jack A., El Gharbawy, Areeg, Han, Joan C., Tung, Y.C. Loraine, Hodges, John R., Raymond, F. Lucy, O’Rahilly, Stephen, Farooqi, I. Sadaf
Published in Diabetes (New York, N.Y.) (01.12.2006)
Published in Diabetes (New York, N.Y.) (01.12.2006)
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Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation
Brand, Harrison, Collins, Ryan L., Hanscom, Carrie, Rosenfeld, Jill A., Pillalamarri, Vamsee, Stone, Matthew R., Kelley, Fontina, Mason, Tamara, Margolin, Lauren, Eggert, Stacey, Mitchell, Elyse, Hodge, Jennelle C., Gusella, James F., Sanders, Stephan J., Talkowski, Michael E.
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Tau and α-synuclein in susceptibility to, and dementia in, Parkinson's disease
Goris, An, Williams-Gray, Caroline H., Clark, Graeme R., Foltynie, Thomas, Lewis, Simon J. G., Brown, Joanne, Ban, Maria, Spillantini, Maria G., Compston, Alastair, Burn, David J., Chinnery, Patrick F., Barker, Roger A., Sawcer, Stephen J.
Published in Annals of neurology (01.08.2007)
Published in Annals of neurology (01.08.2007)
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Prognostic Importance of C-KIT Mutations in Core Binding Factor Acute Myeloid Leukemia: A Systematic Review
Ayatollahi, Hossein, Shajiei, Arezoo, Sadeghian, Mohammad Hadi, Sheikhi, Maryam, Yazdandoust, Ehsan, Ghazanfarpour, Masumeh, Shams, Seyyede Fatemeh, Shakeri, Sepideh
Published in Hematology/oncology and stem cell therapy (01.03.2017)
Published in Hematology/oncology and stem cell therapy (01.03.2017)
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Implication of LRRC4C and DPP6 in neurodevelopmental disorders
Maussion, Gilles, Cruceanu, Cristiana, Rosenfeld, Jill A., Bell, Scott C., Jollant, Fabrice, Szatkiewicz, Jin, Collins, Ryan L., Hanscom, Carrie, Kolobova, Ilaria, de Champfleur, Nicolas Menjot, Blumenthal, Ian, Chiang, Colby, Ota, Vanessa, Hultman, Christina, O'Dushlaine, Colm, McCarroll, Steve, Alda, Martin, Jacquemont, Sebastien, Ordulu, Zehra, Marshall, Christian R., Carter, Melissa T., Shaffer, Lisa G., Sklar, Pamela, Girirajan, Santhosh, Morton, Cynthia C., Gusella, James F., Turecki, Gustavo, Stavropoulos, Dimitri J., Sullivan, Patrick F., Scherer, Stephen W., Talkowski, Michael E., Ernst, Carl
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Identification of polymorphic inversions from genotypes
Cáceres, Alejandro, Sindi, Suzanne S, Raphael, Benjamin J, Cáceres, Mario, González, Juan R
Published in BMC bioinformatics (09.02.2012)
Published in BMC bioinformatics (09.02.2012)
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Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation
Giglio, Sabrina, Calvari, Vladimiro, Gregato, Giuliana, Gimelli, Giorgio, Camanini, Silvia, Giorda, Roberto, Ragusa, Angela, Guerneri, Silvana, Selicorni, Angelo, Stumm, Marcus, Tonnies, Holger, Ventura, Mario, Zollino, Marcella, Neri, Giovanni, Barber, John, Wieczorek, Dagmar, Rocchi, Mariano, Zuffardi, Orsetta
Published in American journal of human genetics (01.08.2002)
Published in American journal of human genetics (01.08.2002)
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Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements
Giglio, Sabrina, Broman, Karl W., Matsumoto, Naomichi, Calvari, Vladimiro, Gimelli, Giorgio, Neumann, Thomas, Ohashi, Hirofumi, Voullaire, Lucille, Larizza, Daniela, Giorda, Roberto, Weber, Jim L., Ledbetter, David H., Zuffardi, Orsetta
Published in American journal of human genetics (01.04.2001)
Published in American journal of human genetics (01.04.2001)
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