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Number of items: 16.

Kamat, Mihir Anant, Bacolla, Albino, Cooper, David Neil and Chuzhanova, Nadia 2015. A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease. Human Mutation 37 (1) , pp. 65-73. 10.1002/humu.22917

Mayes, Mary B., Morgan, Taniesha, Winston, Jincy, Buxton, Daniel S., Kamat, Mihir Anant, Smith, Debbie, Williams, Maggie, Martin, Rebecca L., Kleinjan, Dirk A., Cooper, David Neil, Upadhyaya, Meena and Chuzhanova, Nadia 2015. Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD. Human Genomics 9 , 25. 10.1186/s40246-015-0047-x
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Hamby, Stephen E., Reviriego, Pablo, Cooper, David Neil, Upadhyaya, Meena and Chuzhanova, Nadia 2013. Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1. Human Genomics 7 , 18. 10.1186/1479-7364-7-18
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Mantripragada, Kiran Kumar, de Stahl, Teresita Diaz, Patridge, Chris, Menzel, Uwe, Andersson, Robin, Chuzhanova, Nadia, Kluwe, Lan, Guha, Abhijit, Mautner, Victor, Dumanski, Jan P. and Upadhyaya, Meena 2009. Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosomes and Cancer 48 (10) , pp. 897-907. 10.1002/gcc.20695

Spurlock, Gillian, Bennett, Emma Louise, Chuzhanova, Nadia, Thomas, Nicholas Stuart Tudor, Jim, Hoi-Ping, Side, L., Davies, S., Haan, E., Kerr, Briedgeen, Huson, S. M. and Upadhyaya, Meena 2009. SPRED1 mutations (Legius syndrome): Another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. Journal of Medical Genetics 46 (7) , pp. 431-437. 10.1136/jmg.2008.065474

Upadhyaya, Meena, Huson, Susan M., Davies, Mark, Thomas, Nicholas Stuart Tudor, Chuzhanova, Nadia, Giovannini, S., Evans, D. Gareth, Howard, E., Kerr, B., Griffiths, S., Consoli, Claudia, Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Liu, H., Wallace, P., Van Biervliet, J. P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C. and Messiaen, Ludwine 2007. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. American Journal of Human Genetics 80 (1) , pp. 140-151. 10.1086/510781

Chuzhanova, Nadia, Cooper, David Neil, Ferec, Claude and Chen, Jian-Min 2007. Searching for potential microRNA-binding site mutations amongst known disease-associated 3' UTR variants. Genomic Medicine 1 (1-2) , pp. 29-33. 10.1007/s11568-006-9000-3

Vogt, Guillaume, Vogt, Benoît, Chuzhanova, Nadia, Julenius, Karin, Cooper, David Neil and Casanova, Jean-Laurent 2007. Gain-of-glycosylation mutations. Current Opinion in Genetics & Development 17 (3) , pp. 245-251. 10.1016/j.gde.2007.04.008

Xie, Fei, Wang, Xuefeng, Cooper, David Neil, Chuzhanova, Nadia, Fang, Yi, Cai, Xiaohong, Wang, Zhenyi and Wang, Hongli 2006. A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions. Blood Cells, Molecules, and Diseases 36 (3) , pp. 385-391. 10.1016/j.bcmd.2006.03.003

Bacolla, A., Collins, J. R., Gold, B., Chuzhanova, Nadia, Yi, M., Stephens, R. M., Stefanov, S., Olsh, A., Jakupciak, J. P., Dean, M., Lempicki, R. A., Cooper, David Neil and Wells, R. D. 2006. Long homopurine•homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region. Nucleic Acids Research 34 (9) , pp. 2663-2675. 10.1093/nar/gkl354

Férec, Claude, Casals, Teresa, Chuzhanova, Nadia, Macek, Milan, Bienvenu, Thierry, Holubova, Andrea, King, Caitriona, McDevitt, Trudi, Castellani, Carlo, Farrell, Philip M, Sheridan, Molly, Pantaleo, Sarah-Jane, Loumi, Ourida, Messaoud, Taieb, Cuppens, Harry, Torricelli, Francesca, Cutting, Garry R, Williamson, Robert, Ramos, Maria Jesus Alonso, Pignatti, Pier Franco, Raguénès, Odile, Cooper, David Neil, Audrézet, Marie-Pierre and Chen, Jian-Min 2006. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. European Journal of Human Genetics 14 (5) , pp. 567-576. 10.1038/sj.ejhg.5201590

Ashelford, Kevin E, Chuzhanova, Nadia, Fry, John Christopher, Jones, Antonia Jane and Weightman, Andrew John 2005. At least 1 in 20 16S rRNA sequence records currently held in public repositories is estimated to contain substantial anomalies. Applied and Environmental Microbiology 71 (12) , pp. 7724-7736. 10.1128/AEM.71.12.7724-7736.2005

Vogt, Guillaume, Chapgier, Ariane, Yang, Kun, Chuzhanova, Nadia, Feinberg, Jacqueline, Fieschi, Claire, Boisson-Dupuis, Stephanie, Alcais, Alexandre, Filipe-Santos, Orchidee, Bustamante, Jacinta, Beaucoudrey, Ludovic de, Al-Mohsen, Ibrahim, Al-Hajjar, Sami, Al-Ghonaium, Abdulaziz, Adimi, Pierre, Mirsaeidi, Mehdi, Khalilzadeh, Soheila, Rosenzweig, Sergio, Martin, Oscar de la Calle, Bauer, Thomas R, Puck, Jennifer M, Ochs, Hans D, Furthner, Dieter, Engelhorn, Carolin, Belohradsky, Bernd, Mansouri, Davood, Holland, Steven M, Schrieber, Robert D, Abel, Laurent, Cooper, David Neil, Casanova, Jean -Laurent and Soudais, Claire 2005. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nature Genetics 37 (7) , pp. 692-700. 10.1038/ng1581

Bacolla, Albino, Jaworski, Adam, Larson, Jacquelynn E., Jackupciak, John P., Chuzhanova, Nadia, Abeysinghe, Shaun A., O'Connell, Catherine D., Cooper, David Neil and Wells, Robert D. 2004. Breakpoints of gross deletions coincide with non-B DNA conformations. Proceedings of the National Academy of Sciences 101 (39) , pp. 14162-14167. 10.1073/pnas.0405974101

Abeysinghe, Shaun Shihantha, Chuzhanova, Nadia, Krawczak, Michael, Ball, Edward Vincent and Cooper, David Neil 2003. Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Human Mutation 22 (3) , pp. 229-44. 10.1002/humu.10254

Chuzhanova, Nadia A., Krawczak, M., Nemytikova, L.A., Gusev, V. D. and Cooper, David Neil 2000. Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene. Gene 254 (1-2) , pp. 9-18. 10.1016/s0378-1119(00)00308-5

This list was generated on Sat Dec 14 10:23:28 2019 GMT.