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Select record 21
ArticlesPeer ReviewedFull Text
In Silico identification of pathogenic strains of Cronobacter from Biochemical data reveals association of inositol fermentation with pathogenicity
Author / Creator:Hamby, Stephen E ; Joseph, Susan ; Forsythe, Stephen J ; Chuzhanova, Nadia
Publisher:England: BioMed Central Ltd
Journal title:BMC microbiology, 2011-09, Vol.11 (1), p.204-204
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Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity
Author / Creator:Chuzhanova, Nadia A. ; Anassis, Emmanuel J. ; Ball, Edward V. ; Krawczak, Michael ; Cooper, David N.
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-01, Vol.21 (1), p.28-44
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A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease
Author / Creator:Hamby, Stephen E ; Thomas, Nick ST ; Cooper, David N ; Chuzhanova, Nadia
Publisher:England: BioMed Central
Journal title:Human genomics, 2011-05, Vol.5 (4), p.241-264
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Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer
Author / Creator:Turner, Clesson ; Killoran, Christina ; Thomas, Nick S. T. ; Rosenberg, Marjorie ; Chuzhanova, Nadia A. ; Johnston, Jennifer ; Kemel, Yelena ; Cooper, David N. ; Biesecker, Leslie G.
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2003-03, Vol.112 (3), p.303-309
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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...
Author / Creator: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 N ; Audrézet, Marie-Pierre ; Chen, Jian-Min
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.567-576
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Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes
Author / Creator:Kolb, Jessica ; Chuzhanova, Nadia A ; Högel, Josef ; Vasquez, Karen M ; Cooper, David N ; Bacolla, Albino ; Kehrer-Sawatzki, Hildegard
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Chromosome research, 2009-05, Vol.17 (4), p.469-483
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Evolutionary hierarchies of conserved blocks in 5'-noncoding sequences of dicot rbcS genes
Author / Creator:Weeks, Katie E ; Chuzhanova, Nadia A ; Donnison, Iain S ; Scott, Ian M
Publisher:England: BioMed Central Ltd
Journal title:BMC evolutionary biology, 2007-04, Vol.7 (1), p.51-51, Article 51
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Complex gene rearrangements caused by serial replication slippage
Author / Creator:Chen, Jian-Min ; Chuzhanova, Nadia ; Stenson, Peter D. ; Férec, Claude ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-08, Vol.26 (2), p.125-134
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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
Author / Creator:Millar, David S ; Tysoe, Carolyn ; Lazarou, Lazarus P ; Pilz, Daniela T ; Mohammed, Shehla ; Anderson, Katharine ; Chuzhanova, Nadia ; Cooper, David N ; Butler, Rachel
Publisher:England: BioMed Central
Journal title:Human genomics, 2010-08, Vol.4 (6), p.384-393
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Towards IIn Silico/I Identification of Genes Contributing to Similarity of Patients’ Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia
Author / Creator:Batten, Declan J ; Crofts, Jonathan J ; Chuzhanova, Nadia
Publisher:MDPI AG
Journal title:Genes, 2023-09, Vol.14 (9)
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Towards In Silico Identification of Genes Contributing to Similarity of Patients’ Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia
Author / Creator:Batten, Declan J. ; Crofts, Jonathan J. ; Chuzhanova, Nadia
Publisher:Basel: MDPI AG
Journal title:Genes, 2023-09, Vol.14 (9), p.1795
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Predicting novel genomic regions linked to genetic disorders using GWAS and chromosome conformation data – a case study of schizophrenia
Author / Creator:Buxton, Daniel S. ; Batten, Declan J. ; Crofts, Jonathan J. ; Chuzhanova, Nadia
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-11, Vol.9 (1), p.17940-14, Article 17940
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THE EVOLUTION OF THE VERTEBRATE β-GLOBIN GENE PROMOTER
Author / Creator:Chuzhanova, Nadia A ; Krawczak, Michael ; Thomas, Nick ; Nemytikova, Lubov A ; Gusev, Vladimir D ; Cooper, David N
Publisher:United States: Society for the Study of Evolution
Journal title:Evolution, 2002-02, Vol.56 (2), p.224-232
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Select record 34
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The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas
Author / Creator:Upadhyaya, Meena ; Spurlock, Gill ; Kluwe, Lan ; Chuzhanova, Nadia ; Bennett, Emma ; Thomas, Nick ; Guha, Abhijit ; Mautner, Victor
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Neurogenetics, 2009-07, Vol.10 (3), p.251-263
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Select record 35
ArticlesPeer ReviewedFull Text
Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden
Author / Creator:Thomas, Laura ; Kluwe, Lan ; Chuzhanova, Nadia ; Mautner, Victor ; Upadhyaya, Meena
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Neurogenetics, 2010-10, Vol.11 (4), p.391-400
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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
Author / Creator:Mühle, Christiane ; Zenker, Martin ; Chuzhanova, Nadia ; Schneider, Holm
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-10, Vol.28 (10), p.1045-1045
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Select record 37
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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
Author / Creator:Chuzhanova, Nadia ; Abeysinghe, Shaun S. ; Krawczak, Michael ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-09, Vol.22 (3), p.245-251
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Select record 38
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Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
Author / Creator:Thomas, Laura ; Spurlock, Gill ; Eudall, Claire ; Thomas, Nick S ; Mort, Matthew ; Hamby, Stephen E ; Chuzhanova, Nadia ; Brems, Hilde ; Legius, Eric ; Cooper, David N ; Upadhyaya, Meena
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.411-419
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ArticlesPeer ReviewedFull Text
Complex gene rearrangements caused by serial replication slippage
Author / Creator:Chen, Jian‐Min ; Chuzhanova, Nadia ; Stenson, Peter D. ; Férec, Claude ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-08, Vol.26 (2), p.125-134
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Select record 40
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Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
Author / Creator:Audrézet, Marie-Pierre ; Chen, Jian-Min ; Raguénès, Odile ; Chuzhanova, Nadia ; Giteau, Karine ; Maréchal, Cédric Le ; Quéré, Isabelle ; Cooper, David N. ; Férec, Claude
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-04, Vol.23 (4), p.343-357
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Showing 21 to 40 of 48 results

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In Silico identification of pathogenic strains of Cronobacter from Biochemical data reveals association of inositol fermentation with pathogenicity

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Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

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A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

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Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer

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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...

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Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes

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Evolutionary hierarchies of conserved blocks in 5'-noncoding sequences of dicot rbcS genes

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Complex gene rearrangements caused by serial replication slippage

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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

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Towards IIn Silico/I Identification of Genes Contributing to Similarity of Patients’ Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia

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Towards In Silico Identification of Genes Contributing to Similarity of Patients’ Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia

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Predicting novel genomic regions linked to genetic disorders using GWAS and chromosome conformation data – a case study of schizophrenia

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THE EVOLUTION OF THE VERTEBRATE β-GLOBIN GENE PROMOTER

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The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas

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Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden

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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

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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

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Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

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Complex gene rearrangements caused by serial replication slippage

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Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms

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