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meta-analysis of nonsense mutations causing human genetic disease
Mort, Matthew, Ivanov, Dobril, Cooper, David N, Chuzhanova, Nadia A
Published in Human mutation (01.08.2008)
Published in Human mutation (01.08.2008)
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Gene conversion: mechanisms, evolution and human disease
Chen, Jian-Min, Cooper, David N., Chuzhanova, Nadia, Férec, Claude, Patrinos, George P.
Published in Nature reviews. Genetics (01.10.2007)
Published in Nature reviews. Genetics (01.10.2007)
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At Least 1 in 20 16S rRNA Sequence Records Currently Held in Public Repositories Is Estimated To Contain Substantial Anomalies
Ashelford, Kevin E., Chuzhanova, Nadia A., Fry, John C., Jones, Antonia J., Weightman, Andrew J.
Published in Applied and Environmental Microbiology (01.12.2005)
Published in Applied and Environmental Microbiology (01.12.2005)
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Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides
Cooper, David N, Mort, Matthew, Stenson, Peter D, Ball, Edward V, Chuzhanova, Nadia A
Published in Human genomics (01.08.2010)
Published in Human genomics (01.08.2010)
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Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species
Joseph, Susan, Desai, Prerak, Ji, Yongmei, Cummings, Craig A., Shih, Rita, Degoricija, Lovorka, Rico, Alain, Brzoska, Pius, Hamby, Stephen E., Masood, Naqash, Hariri, Sumyya, Sonbol, Hana, Chuzhanova, Nadia, McClelland, Michael, Furtado, Manohar R., Forsythe, Stephen J.
Published in PloS one (16.11.2012)
Published in PloS one (16.11.2012)
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Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
Cooper, David N, Chen, Jian-Min, Ball, Edward V, Howells, Katy, Mort, Matthew, Phillips, Andrew D, Chuzhanova, Nadia, Krawczak, Michael, Kehrer-Sawatzki, Hildegard, Stenson, Peter D
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene
Millar, David S, Horan, Martin, Chuzhanova, Nadia A, Cooper, David N
Published in Human genomics (01.06.2010)
Published in Human genomics (01.06.2010)
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High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization
Mantripragada, Kiran K., Spurlock, Gillian, Kluwe, Lan, Chuzhanova, Nadia, Ferner, Rosalie E., Frayling, Ian M., Dumanski, Jan P., Guha, Abhijit, Mautner, Victor, Upadhyaya, Meena
Published in Clinical cancer research (15.02.2008)
Published in Clinical cancer research (15.02.2008)
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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Alkindy, Adila, Chuzhanova, Nadia, Kini, Usha, Cooper, David N, Upadhyaya, Meena
Published in Human genomics (13.08.2012)
Published in Human genomics (13.08.2012)
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Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
Abeysinghe, Shaun S., Chuzhanova, Nadia, Krawczak, Michael, Ball, Edward V., Cooper, David N.
Published in Human mutation (01.09.2003)
Published in Human mutation (01.09.2003)
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Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity
Ball, Edward V., Stenson, Peter D., Abeysinghe, Shaun S., Krawczak, Michael, Cooper, David N., Chuzhanova, Nadia A.
Published in Human mutation (01.09.2005)
Published in Human mutation (01.09.2005)
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Type 2 NF1 Deletions Are Highly Unusual by Virtue of the Absence of Nonallelic Homologous Recombination Hotspots and an Apparent Preference for Female Mitotic Recombination
Steinmann, Katharina, Cooper, David N., Kluwe, Lan, Chuzhanova, Nadia A., Senger, Cornelia, Serra, Eduard, Lazaro, Conxi, Gilaberte, Montserrat, Wimmer, Katharina, Mautner, Viktor-Felix, Kehrer-Sawatzki, Hildegard
Published in American journal of human genetics (01.12.2007)
Published in American journal of human genetics (01.12.2007)
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Breakpoints of Gross Deletions Coincide with Non-B DNA Conformations
Bacolla, Albino, Jaworski, Adam, Larson, Jacquelynn E., Jakupciak, John P., Chuzhanova, Nadia, Abeysinghe, Shaun S., O'Connell, Catherine D., Cooper, David N., Wells, Robert D., Modrich, Paul L.
Published in Proceedings of the National Academy of Sciences - PNAS (28.09.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (28.09.2004)
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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
Vogt, Guillaume, Chapgier, Ariane, Yang, Kun, Chuzhanova, Nadia, Feinberg, Jacqueline, Fieschi, Claire, Boisson-Dupuis, Stéphanie, Alcais, Alexandre, Filipe-Santos, Orchidée, Bustamante, Jacinta, de Beaucoudrey, Ludovic, Al-Mohsen, Ibrahim, Al-Hajjar, Sami, Al-Ghonaium, Abdulaziz, Adimi, Parisa, Mirsaeidi, Mehdi, Khalilzadeh, Soheila, Rosenzweig, Sergio, de la Calle Martin, Oscar, Bauer, Thomas R, Puck, Jennifer M, Ochs, Hans D, Furthner, Dieter, Engelhorn, Carolin, Belohradsky, Bernd, Mansouri, Davood, Holland, Steven M, Schreiber, Robert D, Abel, Laurent, Cooper, David N, Soudais, Claire, Casanova, Jean-Laurent
Published in Nature genetics (01.07.2005)
Published in Nature genetics (01.07.2005)
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Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair
Chuzhanova, Nadia, Chen, Jian-Min, Bacolla, Albino, Patrinos, George P, Férec, Claude, Wells, Robert D, Cooper, David N
Published in Human mutation (01.08.2009)
Published in Human mutation (01.08.2009)
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Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients
Tappino, Barbara, Chuzhanova, Nadia A, Regis, Stefano, Dardis, Andrea, Corsolini, Fabio, Stroppiano, Marina, Tonoli, Emmanuel, Beccari, Tommaso, Rosano, Camillo, Mucha, Jan, Blanco, Mariana, Szlago, Marina, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella
Published in Human mutation (01.11.2009)
Published in Human mutation (01.11.2009)
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Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions
Roehl, Angelika C, Vogt, Julia, Mussotter, Tanja, Zickler, Antje N, Spöti, Helene, Högel, Josef, Chuzhanova, Nadia A, Wimmer, Katharina, Kluwe, Lan, Mautner, Victor-Felix, Cooper, David N, Kehrer-Sawatzki, Hildegard
Published in Human mutation (01.10.2010)
Published in Human mutation (01.10.2010)
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Non-B DNA-forming Sequences and WRN Deficiency Independently Increase the Frequency of Base Substitution in Human Cells
Bacolla, Albino, Wang, Guliang, Jain, Aklank, Chuzhanova, Nadia A., Cer, Regina Z., Collins, Jack R., Cooper, David N., Bohr, Vilhelm A., Vasquez, Karen M.
Published in The Journal of biological chemistry (25.03.2011)
Published in The Journal of biological chemistry (25.03.2011)
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