Items where Author is "Cooper, DN"

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

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

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.

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

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.

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

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

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).

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.