Items where Author is "Chuzhanova, N"

Journal article

BATTEN, D.J., CROFTS, J.J. and CHUZHANOVA, N., 2023. Towards In Silico identification of genes contributing to similarity of patients’ multi-omics profiles: a case study of acute myeloid leukemia. Genes, 14 (9): 1795.

CROFTS, J.J., CHUZHANOVA, N., PADMORE, A. and NELSON, M.R., 2022. Synchrony in directed connectomes. EPL, 139 (4): 42004. ISSN 0295-5075

PADMORE, A., NELSON, M.R., CHUZHANOVA, N. and CROFTS, J.J., 2020. Modelling the impact of structural directionality on connectome-based models of neural activity. Journal of Complex Networks, 8 (4): cnaa033. ISSN 2051-1310

HALL, B., BARNETT, Y.A., CROFTS, J. and CHUZHANOVA, N., 2019. Identification of novel genes associated with longevity in Drosophila melanogaster - a computational approach. Aging, 11 (23), pp. 11244-11267. ISSN 1945-4589

BUXTON, D.S., BATTEN, D.J., CROFTS, J.J. and CHUZHANOVA, N., 2019. Predicting novel genomic regions linked to genetic disorders using GWAS and chromosome conformation data - a case study of schizophrenia. Scientific Reports, 9: 17940. ISSN 2045-2322

MARTIN, R., CHAPPELL, D.J., CHUZHANOVA, N. and CROFTS, J.J., 2018. A numerical simulation of neural fields on curved geometries. Journal of Computational Neuroscience. ISSN 0929-5313

PEARCY, N., CHUZHANOVA, N. and CROFTS, J.J., 2016. Complexity and robustness in hypernetwork models of metabolism. Journal of Theoretical Biology, 406, pp. 99-104. ISSN 0022-5193

KAMAT, M.A., BACCOLA, A., COOPER, D.N. and CHUZHANOVA, N., 2016. A role for non-B DNA forming sequences in mediating microlesions causing human inherited disease. Human Mutation, 37 (1), pp. 65-73. ISSN 1059-7794

PEARCY, N., CROFTS, J.J. and CHUZHANOVA, N., 2015. Network motif frequency vectors reveal evolving metabolic network organisation. Molecular BioSystems, 11 (1), pp. 77-85. ISSN 1742-206X

MAYES, M.B., MORGAN, T., WINSTON, J., BUXTON, D.S., KAMAT, M.A., SMITH, D., WILLIAMS, M., MARTIN, R.L., KLEINJAN, D.A., COOPER, D.N., UPADHYAYA, M. and CHUZHANOVA, N., 2015. Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD. Human Genomics, 9. ISSN 1479-7364

PEARCY, N., CROFTS, J.J. and CHUZHANOVA, N., 2014. Hypergraph models of metabolism. International Journal of Biological, Veterinary, Agricultural and Food Engineering, 8 (8), pp. 752-756.

STORKANOVA, G., VLASKOVA, H., CHUZHANOVA, N., ZEMAN, J., STRANECKY, V., MAJER, F., PESKOVA, K., LUKSAN, O., JIRSA, M., HREBICEK, M. and DVORAKOVA, L., 2013. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. Clinical Genetics.

HAMBY, S.E., REVIRIEGO, P., COOPER, D.N., UPADHYAYA, M. and CHUZHANOVA, N., 2013. Screening in silico-predicted remotely acting NF1 regulatory elements for mutations in patients with neurofibromatosis type 1. Human Genomics, 7 (18).

ZICKLER, A.M., HAMPP, S., MESSIAEN, L., BENGESSER, K., MUSSOTTER, T., ROEHL, A.C., WIMMER, K., MAUTNER, V., KLUWE, L., UPADHYAYA, M., PASMANT, E., CHUZHANOVA, N., KESTLER, H.A., HÖGEL, J., LEGIUS, E., CLAES, K., COOPER, D.N. and KEHRER-SAWATZKI, H., 2012. Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions. Human Mutation, 33, pp. 372-383.

JOSEPH, S., DESAI, P., JI, Y., CUMMINGS, C.A., SHIH, R., DEGORICIJA, L., RICO, A., BRZOSKA, P., HAMBY, S.E., MASOOD, N., HARIRI, S., SONBOL, H., CHUZHANOVA, N., MCCLELLAND, M., FURTADO, M.R., FORSYTHE, S.J. and READ, T.D., 2012. Comparative analysis of genome sequences covering the seven cronobacter species. PLoS ONE, 7 (11). ISSN 0890-8508

ALKINDY, A., CHUZHANOVA, N., KINI, U., COOPER, D.N. and UPADHYAYA, M., 2012. Genotype-phenotype correlations in neurofibromatosis type 1 (NF1): an increased risk of tumour complications in patients with NF1 splice site mutations? Genomic Medicine, 6 (12).

VOGT, J., MUSSOTTER, T., BENGESSER, K., CLAES, K., HÖGEL, J., CHUZHANOVA, N., FU, C., VAN DEN ENDE, J., MAUTNER, V.F., COOPER, D.N., MESSIAEN, L. and KEHRER-SAWATZKI, H., 2012. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. Human Mutation, 33 (11), pp. 1599-1609.

HAMBEY, S.E., JOSEPH, S., FORSYTHE, S.J. and CHUZHANOVA, N., 2011. In silico identification of pathogenic strains of Cronobacter from biochemical data reveals association of inositol fermentation with pathogenicity. BMC Microbiology, 11 (204). ISSN 1471-2180

THOMAS, L., SPURLOCK, G., EUDALL, C., THOMAS, N., HAMBEY, S.E., CHUZHANOVA, N., BREMS, H., LEGIUS, E. and UPADHYAYA, M., 2011. The germline and somatic NF1 mutational spectra associated with NF1 cutaneous neurofibromas: Identification of 60 novel somatic NF1 mutations. European Journal of Human Genetics, 20, pp. 411-419.

HAMBY, S.E., THOMAS, N.S.T., COOPER, D.N. and CHUZHANOVA, N., 2011. A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease. Human Genomics, 5, pp. 241-264.

THOMAS, L., KLUWE, L., CHUZHANOVA, N., MAUTNER, V. and UPADHYAYA, M., 2010. Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics, 11, pp. 391-400.

QUEMENER, S., CHEN, J.M., CHUZHANOVA, N., BÉNECH, C., CASALS, T., MACEK, M., BIENVENU, T., MCDEVITT, T., FARRELL, P.M., LOUMI, O., MESSAOUD, T., CUPPENS, H., CUTTING, G.R., STENSON, P.D., GITEAU, K., AUDRÉZET, M.P., COOPER, D.N. and FÉREC, C., 2010. Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Human Mutation, 31, pp. 421-428.

COOPER, D.N., CHEN, J.M., BALL, E.V., HOWELLS, K., MORT, M., PHILLIPS, A.D., CHUZHANOVA, N., KEHRER-SAWATZKI, H. and STEPHENS, M., 2010. Genes, mutations and human inherited disease at the dawn of the 100K mutome era. Human Mutation, 31, pp. 631-655.

MILLAR, D.S., TYSOE, C., LAZAROU, L.P., PILZ, D.T., MOHAMMED, S., ANDERSON, K., CHUZHANOVA, N., COOPER, D.N. and BUTLER, R., 2010. An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene. Human Genomics, 4 (6), pp. 384-393.

THOMAS, A.D., ROBERTS, A.G., CHUZHANOVA, N., COOPER, D.N., FEIGHERY, C., CONNAUGHTON, J., MORGAN, B.P. and ORREN, A., 2009. Complement component C7 deficiency in four Irish families: the characterisation of a large genomic deletion within the C7 gene. Molecular Immunology, 46 (14).

CHUZHANOVA, N., CHEN, J.M., BACOLLA, A., PATRINOS, G.P., FEREC, C., WELLS, R.D. and COOPER, D.N., 2009. Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair. Human Mutation, 30 (8), pp. 1189-1198. ISSN 1059-7794

MANTRIPRAGADA, K.K., DE, S., PARTRIDGE, C., MENZEL, U., ANDERSSON, R., CHUZHANOVA, N., KLUWE, L., GUHA, A., MAUTNER, V., DUMANSKI, J. and UPADHYAYA, M., 2009. Genome-wide high-resolution analysis of DNA copy number alterations in NF1 associated malignant peripheral nerve sheath tumours using 32K BAC array. Genes Chromosomes Cancer, 48, pp. 897-907.

SPURLOCK, G., BENNETT, E., CHUZHANOVA, N., THOMAS, N., HOI-PING, J., SIDE, L., DAVIES, S., HAAN, E., KERR, K., HUSON, S.M. and UPADHYAYA, M., 2009. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype. Journal of Medical Genetics, 46, pp. 431-437.

WOLF, A., MILLAR, D.S., CALIEBE, A., HORAN, M., NEWSWAY, V., KUMPF, D., STEINMANN, K., CHEE, I.S., LEE, Y.H., MUTIRANGURA, A., PEPE, G., RICKARDS, O., SCHMIDTKE, J., SCHEMPP, W., CHUZHANOVA, N., KEHRER-SAWATZKI, H., KRAWCZAK, M. and COOPER, D.N., 2009. A gene conversion hotspot in the human growth hormone (GH1) gene promoter. Human Mutation, 30 (2), pp. 239-247.

UPADHYAYA, M., SPURLOCK, G., KLUWE, L., CHUZHANOVA, N., BENNETT, E., THOMAS, N., GUHA, A. and MAUTNER, V., 2009. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics, 10, pp. 251-263.

UPADHYAYA, M., KLUWE, L., SPURLOCK, G., MONEM, B., MAJOUNIE, E., MANTRIPRAGADA, K., RUGGIERI, M., CHUZHANOVA, N., EVANS, D.G., FERNER, R., THOMAS, N., GUHA, A. and MAUTNER, V., 2008. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Human Mutation, 29 (1), pp. 74-82. ISSN 1059-7794

MANTRIPRAGADA, K.K., SPURLOCK, G., KLUWE, L., CHUZHANOVA, N., FERNER, R.E., FRAYLING, I.M., DUMANSKI, J.P., GUHA, A., MAUTNER, V. and UPADHYAYA, M., 2008. High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clinical Cancer Research, 14 (4), pp. 1015-1024. ISSN 1078-0432

ROSSER, L.G., MCKEE, S., MILLER, D.S., ARCHER, H., HUGHES, J., BUTLER, R., CHUZHANOVA, N., COOPER, D.N. and LAZAROU, L.P., 2008. Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 genenon-identical paternally-derived microdeletions in the MECP2 gene. Genomic Medicine, 2, pp. 77-81.

MASSON, E., LE, M., LEVY, P., CHUZHANOVA, N., COOPER, D.N., CHEN, J.M. and FÉREC, C., 2007. Coinheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Molecular Genetics and Metabolism, 92, pp. 168-175.

VOGT, G., VOGT, B., CHUZHANOVA, N., COOPER, D.N. and CASANOVA, J., 2007. Gain-of-glycosylation mutations. Current Opinion in Genetics & Development, 17, pp. 245-251.

CHEN, J.M., FÉREC, C., CHUZHANOVA, N., COOPER, D.N. and PATRINOS, G.P., 2007. Gene conversion in evolution and disease. Nature Reviews Genetics, 8, pp. 762-775.

MÜHLE, C., ZENKER, M., CHUZHANOVA, N. and SCHNEIDER, H., 2007. Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A. Human Mutation, 28, p. 1045.

UPADHYAYA, M., HUSON, S.M., DAVIES, M., THOMAS, N., CHUZHANOVA, N., GIOVANNINI, S., EVANS, D.G., HOWARD, E., KERR, B., GRIFFITHS, S., CONSOLI, C., SIDE, L., ADAMS, D., PIERPOINT, M., HACHEN, R., BARNICOAT, A., LI, H., WALLACE, P., STEVENSON, D., VISKOCHIL, D., BARALLE, D., HAAN, E., TURNPENNY, P., RICCARDI, V., LAZARO, C. and MESSIAEN, L., 2007. An absence of cutaneous neurofibromas associated with a 3-bp in-frame 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, pp. 140-151.

UPADHYAYA, M., KLUWE, L., SPURLOCK, G., MANTRIPRAGADA, K., MAJOUNIE, E., CHUZHANOVA, N., EVANS, G., FERNER, R., THOMAS, N., GUHA, A. and MAUTNER, V., 2007. The germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumours (MPNSTs). Human Mutation, 29, pp. 74-82.

FÉREC, C., CASALS, T. and CHUZHANOVA, N., 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 their underlying mechanisms. European Journal of Human Genetics, 14, pp. 567-576.

VOGT, G., CHAPGIER, A., CHUZHANOVA, N., FEINBERG, J., FIELDSON, R., BOISSON-DUPOIS, S., ALCAIS, A., ABEL, L., COOPER, D.N. and CASANOVA, J., 2006. Les mutations 'gain de glycosylation'. Médecine Sciences (Paris), 22, pp. 480-482.

BACOLLA, A., COLLINS, J.R., GOLD, B., CHUZHANOVA, N., YI, M., STEPHENS, R.M., STEFANOV, S., OLSH, A., JAKUPCIAK, J.P., DEAN, M., LEMPICKI, R.A., COOPER, D.N. and WELLS, R.D., 2006. Long homopurine•homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region. Nucleic Acids Research, 34, pp. 2663-2675.

XIE, F., WANG, H.L., COOPER, D.N., CHUZHANOVA, N., WANG, X.F., FANG, Y., CAI, X.H. and WANG, Z.Y., 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, pp. 385-391.

MINÉ, M., BRIVET, M., SCHIFF, M., OGIER, D., CHUZHANOVA, N. and MARSAC, C., 2006. A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency. Molecular Genetics and Metabolism, 89, pp. 106-110.

KEHRER-SAWATZKI, H., SANDIG, C., CHUZHANOVA, N., GOIDTS, V., SZAMALEK, J.M., TÄNZER, S., MÜLLER, S., PLATZER, M., COOPER, D.N. and HAMEISTER, H., 2005. Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (pan troglodytes). Human Mutation, 25, pp. 45-55.

VOGT, G., CHAPGIER, A., YANG, K., CHUZHANOVA, N., FEINBERG, J., FIESCHI, C., BOISSON-DUPOIS, S., ALCAIS, A., FILIPE-SANTOS, O., BUSTAMENTE, J., DE, B., AL-MOHSEN, I., AL-HAJJAR, S., AL-GHONAIUM, A., ADIMI, P., MIRSAEIDI, M., KHALILZADEH, S., DE, L., BAUER, T.R., PUCK, J.M., OCHS, H.D., FURTHNER, D., BELOHRADSKY, B., MANSOURI, D., SCHREIBER, R.D., ABEL, L., COOPER, D.N., SOUDAIS, C. and CASANOVA, J.L., 2005. Gains-of-glycosylation: a large group of pathogenic loss-of-function mutations amenable to chemical complementation in humans. Nature Genetics, 37, pp. 692-700.

BALL, E.V., STENSON, P.D., KRAWCZAK, M., COOPER, D.N. and CHUZHANOVA, N., 2005. Micro-deletions and micro-insertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation, 26, pp. 205-213.

SZAMALEK, J.M., GOIDTS, V., CHUZHANOVA, N., HAMEISTER, H., COOPER, D.N. and KEHRER-SAWATZKI, H., 2005. Molecular characterization of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome. Human Genetics, 117, pp. 168-176.

AUDRÉZET, M.P., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., LE, M., QUÉRÉ, I., COOPER, D.N. and FÉREC, C., 2004. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Human Mutation, 23, pp. 343-357.

CEBECAUEROVA, D., BUDISOVA, L., TAIMR, P., DVORAKOVA, L., HREBICEK, M., CHUZHANOVA, N., VITEK, L., BRODANOVA, M. and HULEK, P., 2004. A compound heterozygote carrying a novel indel mutation in Familial Intrahepatic Cholestasis 1 (ATP8B1) gene presenting benign recurrent intrahepatic cholestasis. Hepatology Research, 30, pp. 1-3.

TURNER, C., KILLORAN, C., THOMAS, N., ROSENBERG, M., CHUZHANOVA, N., JOHNSTON, J., KEMEL, Y., COOPER, D. and BIESECKER, L., 2003. Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Human Genetics, 112, pp. 303-309.

FÉREC, C., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., EL, M., LE, M., QUÉRÉ, I. and AUDRÉZET, M.P., 2003. Rapid screening of large genomic rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene by Quantitative Multiplex Polymerase Chain Reaction of Short Fluorescent Fragments (QMPSF) analysis: high detection rate and diverse mutational mechanisms. American Journal of Human Genetics, 73 (5), p. 559.

ABEYSINGHE, S.S., CHUZHANOVA, N., KRAWCZAK, M., BALL, E.V. and COOPER, D.N., 2003. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Human Mutation, 22 (3), pp. 229-244.

CHUZHANOVA, N., ABEYSINGHE, S.S., KRAWCZAK, M. and COOPER, D.N., 2003. Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Human Mutation, 22 (3), pp. 245-251.

CHANDRA, S., KAPUR, R., CHUZHANOVA, N., SUMMEY, V., PRENTICE, D., BARKER, J., COOPER, D. and WILLIAMS, D.A., 2003. A rare complex DNA rearrangement in the murine steel gene results in exon duplication and a lethal phenotype. Blood, 102, pp. 3548-3555.

Chapter in book

MARTIN, R., CHAPPELL, D.J., CHUZHANOVA, N. and CROFTS, J.J., 2017. Can linear collocation ever beat quadratic? In: D.J. CHAPPELL, ed., Proceedings of the Eleventh UK Conference on Boundary Integral Methods (UKBIM 11), 10-11 July 2017, Nottingham Conference Centre, Nottingham Trent University. Nottingham: Nottingham Trent University: Publications, pp. 117-124. ISBN 9780993111297

UPADHYAYA, M., CHUZHANOVA, N. and COOPER, D.N., 2012. The somatic mutational spectrum of the NF1 gene. In: M. UPADHYAYA and D.N. COOPER, eds., Neurofibromatosis type 1. Heidelberg: Springer, pp. 211-233. ISBN 978364232863

Conference contribution

CHUZHANOVA, N., KRAWCZAK, M., GUSEV, V., NEMYTIKOVA, L. and COOPER, D., 2000. Complexity measures of symbolic sequences and their application to DNA analysis. In: Proceedings of the 2nd International Conference on Bioinformatics of Genome Regulation and Structure (BGRS'2000), Novosibirsk, Russia.