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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

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

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

TAYLOR, T., DINEEN, R.A., GARDINER, D.C., BUSS, C.H., HOWATSON, A., CHUZHANOVA, N.A. and PACE, N.L., 2012. Computed tomography (CT) angiography for confirmation of the clinical diagnosis of brain death [protocol]. Cochrane Database of Systematic Reviews (3).

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.

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

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

BACOLLA, A., WANG, G., JAIN, A., CHUZHANOVA, N.A., COOPER, D.N., BOHR, V.A. and VASQUEZ, K.M., 2011. Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitutions in human cells. Journal of Biological Chemistry, 286, pp. 10017-10026.

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.

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. ISSN 1473-9542

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.

MILLAR, D.S., HORAN, M., CHUZHANOVA, N.A. and COOPER, D.N., 2010. Characterization of a functional intronic polymorphism in the human growth hormone (GH1) gene. Human Genomics, 4, pp. 289-301.

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.

ROEHL, A.C., VOGT, J., MUSSOTTER, T., ZICKER, A.N., SPÖRI, H., HÖGEL, J., CHUZHANOVA, N.A., WIMMER, K., KLUWE, L., MAUTNER, V., COOPER, D.N. and KEHRER-SAWATZKI, H., 2010. Intrachromosomal mitotic non-allelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Human Mutation, 31, pp. 1163-1173.

COOPER, D.N., MORT, M., STENSON, P.D., BALL, E.V. and CHUZHANOVA, N.A., 2010. 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. Human Genomics, 4, pp. 406-410.

BENGESSER, K., COOPER, D.N., STEINMANN, K., KLUWE, L., CHUZHANOVA, N.A., WIMMER, K., TINSCHERT, S., MAUTNER, V. and KEHRER-SAWATZKI, H., 2010. A novel third type of recurrent NF1 microdeletion mediated by non-allelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Human Mutation, 31, pp. 742-751.

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).

KOLB, J., CHUZHANOVA, N.A., HÖGEL, J., COOPER, D.N., BACOLLA, A. and KEHRER-SAWATZKI, H., 2009. Cruciform-forming inverted repeats mediated many microinversions that distinguish the human and chimpanzee genomes. Chromosome Research, 17, pp. 469-483.

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.

PERSICHETTI, E., CHUZHANOVA, N.A., DARDIS, A., TAPPINO, B., POHL, S., THOMAS, N.S.T., ROSANO, C., BALDUCCI, C., PACIOTTI, S., DOMINISSINI, S., MONTALVO, A.L., SIBILIO, M., PARINI, R., RIGOLDI, M., DI, R., PARENTI, G., ORLACCHIO, A., BEMBI, B. and COOPER, D.N., 2009. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Human Mutation, 30, pp. 978-984.

TAPPINO, B., CHUZHANOVA, N.A., REGIS, S., DARDIS, A., CORSOLINI, F., STROPPIANO, M., TONOLI, E., ROSANO, C., MUCHA, J., BLANCO, M., BECCARI, T., SZLAGO, M., DI, R., COOPER, D.N. and FILOCAMO, M., 2009. Molecular Characterization of 22 Novel UDP-N-acetylglucosamine-1-phosphate transferase á- and â-subunit (GNPTAB) Gene Mutations Causing Mucolipidosis Types IIá/â and IIIá/â in 46 Patients. Human Mutation, 30 (11).

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.

MORT, M., IVANOV, D., COOPER, D.N. and CHUZHANOVA, N.A., 2008. A meta-analysis of nonsense mutations causing human genetic disease. Human Mutation, 29 (8), pp. 1037-1047. ISSN 1059-7794

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.

WEEKS, K., CHUZHANOVA, N.A., DONNISON, I.S. and SCOTT, I.M., 2007. Phylogenetic hierarchies of conserved blocks in 5' noncoding sequences of dicot rbcs genes. BMC Evolutionary Biology, 7, p. 51.

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.

STEINMANN, K., COOPER, D.N., KLUWE, L., CHUZHANOVA, N.A., SENGER, C., SERRA, E., LAZARO, C., WIMMER, K., MAUTNER, V. and KEHRER-SAWATZKI, H., 2007. 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. American Journal of Human Genetics, 81, pp. 1201-1220.

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.

ABEYSINGHE, S.S., CHUZHANOVA, N.A. and COOPER, D.N., 2006. Gross deletions and translocations in human genetic disease. In: Genome and disease. Karger, pp. 17-36.

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.

COOPER, D.N., STENSON, P.D. and CHUZHANOVA, N.A., 2006. The Human Gene Mutation Database (HGMD®) and its exploitation in the study of mutational mechanisms. Current Protocols in Bioinformatics, 1 (13), pp. 1-20.

KHAN, I., MORT, M., BUCKLAND, P.R., COOPER, D.N., O'DONAVAN, M.C. and CHUZHANOVA, N.A., 2006. In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity. In Silico Biology, 6, pp. 23-34.

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.

ASHELFORD, K.E., CHUZHANOVA, N.A., FRY, J.C., JONES, J.J. and WEIGHTMAN, A.J., 2006. New screening software shows most 16S rRNA clone libraries published in 2005 contain chimeras. Applied and Environmental Microbiology, 72, pp. 5734-5741.

TREDANO, M., COOPER, D.N., STUHRMANN, M., CHRISTODOULOU, J., CHUZHANOVA, N.A., ROUDOT-THORAVAL, F., BOËLLE, P., ELION, J., JEANPIERRE, M., FEINGOLD, J., RÉMY, C. and BAHUAU, M., 2006. Origin of the prevalent SFTPB indel g.1549C>GAA (121ins2) mutation causing surfactant proteinB (SPB) deficiency. American Journal of Medical Genetics - A, 140, pp. 62-69.

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.

ASHELFORD, K.E., CHUZHANOVA, N.A., FRY, J.C., JONES, A.J. and WEIGHTMAN, A.J., 2005. At least one in twenty 16S rRNA sequence records currently held in public repositories estimated to contain substantial anomalies. Applied and Environmental Microbiology, 72, pp. 7724-7736.

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.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Complex gene rearrangements caused by serial replication slippage. Human Mutation, 26, pp. 125-134.

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.

GOIDTS, V., SZAMALEK, J.M., DE, J., COOPER, D.N., CHUZHANOVA, N.A., HAMEISTER, H. and KEHRER-SAWATZKI, H., 2005. Independent intra-chromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Research, 15, pp. 1232-1242.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Human Mutation, 26, pp. 362-374.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Human Mutation, 25, pp. 207-221.

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.

BACOLLA, A., JAWORSKI, A., LARSON, J.E., JAKUPCIAK, J.P., CHUZHANOVA, N.A., ABEYSINGHE, S.S., O'CONNELL, C.D., COOPER, D.N. and WELLS, R.D., 2004. Breakpoints of gross deletions coincide with non-B DNA conformations. Proceedings of the National Academy of Sciences of the United Statesof America (PNAS), 101, pp. 14162-14167.

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.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2004. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. Human Mutation, 23 (2), p. 205. ISSN 1059-7794

CHUZHANOVA, N.A. and COOPER, D.N., 2004. Using change in local DNA sequence complexity as a pointer to the mechanism of mutagenesis in inherited disease. In: N. KOLCHANOV and R. HOFESTAEDT, eds., Bioinformatics of genome regulation and structure. Kluwer, pp. 13-20.

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.

GUSEV, V.D., NEMYTIKOVA, L.A. and CHUZHANOVA, N.A., 2003. Adaptive algorithm of pattern matching in symbolic sequences. In: Proceedings of OGRW-6-2003 Workshop.

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.

CHUZHANOVA, N.A., ANASSIS, E.J., BALL, E., KRAWCZAK, M. and COOPER, D.N., 2003. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation, 21, pp. 28-44.

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.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2003. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. American Journal of Human Genetics, 73 (5), p. 565. ISSN 0002-9297

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.

CHUZHANOVA, N.A. and COOPER, D.N., 2002. Mechanisms of mutagenesis and the role of local DNA sequence complexity. In: Proceedings of the 3rd International Conference on Bioinformatics of Genome Regulation and Structure (BGRS'2000), Novosibirsk, Russia.

CHUZHANOVA, N.A., KRAWCZAK, M., THOMAS, N., NEMYTIKOVA, L.A., GUSEV, V.D. and COOPER, D.N., 2002. The evolution of the vertebrate â-globin gene promoter. Evolution, 56, pp. 154-162.

GUSEV, V.D., NEMYTIKOVA, L.A. and CHUZHANOVA, N.A., 2001. A fast method for identification of interconnections between functionally and/or evolutionarily related genetic sequences. Molecular biology, 35, pp. 867-873.

KRAWCZAK, M., CHUZHANOVA, N.A., STENSON, P., JOHANSEN, B., BALL, E. and COOPER, D.N., 2000. Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions. Human Genetics, 107, pp. 362-365.

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.

SHAMSHER, M.K., CHUZHANOVA, N.A., FRIEDMAN, B., SCOPES, D.A., ALHAQ, A., MILLAR, D.S., COOPER, D.N. and BERG, L., 2000. Identification of an intronic regulatory element in the human protein C (PROC) gene. Human Genetics, 107, pp. 458-465.

CHUZHANOVA, N.A., KRAWCZAK, M., GUSEV, V.D., NEMYTIKOVA, L.A. and COOPER, D.N., 2000. Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene. Gene, 254, pp. 9-18.

KRAWCZAK, M., CHUZHANOVA, N.A. and COOPER, D.N., 1999. Evolution of the proximal promoter region of the mammalian growth hormone gene. Gene, 237, pp. 143-151.

GUSEV, V.D., NEMYTIKOVA, L.A. and CHUZHANOVA, N.A., 1999. On the complexity measures of genetic sequences. Bioinformatics, 15, pp. 994-999.

CHUZHANOVA, N.A., JONES, A.J. and MARGETTS, S., 1998. Feature selection for genetic sequence classification. Bioinformatics, 14, pp. 139-143.