N. Chuzhanova

发表

Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes

P. Stenson, D. Cooper, A. Phillips, 2011, Human mutation.

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

D. Cooper, M. Mort, N. Thomas, 2011, European Journal of Human Genetics.

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

E. Haan, S. Huson, N. Thomas, 2009, Journal of Medical Genetics.

Complexity and robustness in hypernetwork models of metabolism.

Jonathan J Crofts, Nicole Pearcy, Nadia Chuzhanova, 2016, Journal of theoretical biology.

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

P. Stenson, D. Cooper, M. Mort, 2010, Human mutation.

Gene conversion: mechanisms, evolution and human disease

D. Cooper, G. Patrinos, N. Chuzhanova, 2007, Nature Reviews Genetics.

The Human Gene Mutation Database (HGMD) and Its Exploitation in the Study of Mutational Mechanisms

P. Stenson, D. Cooper, N. Chuzhanova, 2005, Current protocols in bioinformatics.

For Peer Review Comparative Analysis of Germline and Somatic Micro-lesion Mutational Spectra in 17 Human Tumour Suppressor Genes

D. Cooper, A. Phillips, H. Kehrer-Sawatzki, 2011 .

At Least 1 in 20 16S rRNA Sequence Records Currently Held in Public Repositories Is Estimated To Contain Substantial Anomalies

A. J. Jones, N. Chuzhanova, J. Fry, 2005, Applied and Environmental Microbiology.

New Screening Software Shows that Most Recent Large 16S rRNA Gene Clone Libraries Contain Chimeras

A. J. Jones, N. Chuzhanova, J. Fry, 2006, Applied and Environmental Microbiology.

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

D. Cooper, M. Krawczak, E. Ball, 2003, Human mutation.

Gain-of-glycosylation mutations.

Guillaume Vogt, David N Cooper, Nadia Chuzhanova, 2007, Current opinion in genetics & development.

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)

Matthias Platzer, Horst Hameister, David N Cooper, 2005, Human mutation.

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B‐containing low‐copy repeats in 17q11.2

D. Cooper, M. Tatagiba, H. Kehrer-Sawatzki, 2010, Human mutation.

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Guillaume Vogt, David N Cooper, Mehdi Mirsaeidi, 2005, Nature Genetics.

A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions.

D. Cooper, N. Chuzhanova, F. Xie, 2006, Blood cells, molecules & diseases.

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

N. Chuzhanova, M. Zenker, H. Schneider, 2007, Human mutation.

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

J. J. Crofts, N. Chuzhanova, Daniel S. Buxton, 2019, Scientific Reports.

Identification of novel genes associated with longevity in Drosophila melanogaster - a computational approach

J. J. Crofts, N. Chuzhanova, Y. Barnett, 2019, Aging.

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

L. Kluwe, N. Chuzhanova, M. Upadhyaya, 2010, neurogenetics.

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

D. Cooper, N. Thomas, T. Beccari, 2009, Human mutation.

Identification of an intronic regulatory element in the human protein C (PROC) gene

D. Cooper, N. Chuzhanova, D. Millar, 2000, Human Genetics.

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

S. Hamby, N. Chuzhanova, S. Forsythe, 2011, BMC Microbiology.

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.

D. Cooper, C. Lázaro, H. Kehrer-Sawatzki, 2007, American journal of human genetics.

« Les mutations "gain de glycosylation" / Gains of glycosylation mutations »

D. Cooper, N. Chuzhanova, L. Abel, 2015 .

Les mutations « gain de glycosylation »

J. Casanova, D. Cooper, N. Chuzhanova, 2006 .

Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene.

D. Cooper, M. Krawczak, N. Chuzhanova, 2000, Gene.

Long homopurine•homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region

R. Stephens, M. Yi, R. Lempicki, 2006, Nucleic acids research.

Gross deletions and translocations in human genetic disease.

D. Cooper, S. Abeysinghe, N. Chuzhanova, 2006, Genome dynamics.

Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis

N. Chuzhanova, C. Férec, C. Le Gall, 2004, Human mutation.

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

P. Stenson, D. Cooper, N. Chuzhanova, 2010, Human mutation.

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 underlying mechanisms

P. Pignatti, D. Cooper, R. Williamson, 2006, European Journal of Human Genetics.

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

D. Cooper, D. Pilz, N. Chuzhanova, 2010, Human Genomics.

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP‐B) deficiency

D. Cooper, P. Böelle, F. Roudot-thoraval, 2006, American journal of medical genetics. Part A.

Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions

P. Stenson, D. Cooper, M. Krawczak, 2000, Human Genetics.

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type‐2 NF1 deletions

D. Cooper, J. Högel, H. Kehrer-Sawatzki, 2010, Human mutation.

Identification of recurrent type‐2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

D. Cooper, J. Högel, H. Kehrer-Sawatzki, 2012, Human mutation.

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

N. Thomas, G. Spurlock, A. Guha, 2009, neurogenetics.

Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions

P. Stenson, D. Cooper, N. Chuzhanova, 2005, Human mutation.

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

D. Cooper, N. Chuzhanova, C. Férec, 2004, Human mutation.

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

D. Cooper, N. Chuzhanova, S. McKee, 2008, Genomic Medicine.

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

D. Cooper, T. Beccari, C. Rosano, 2009, Human mutation.

Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene

D. Cooper, M. Horan, N. Chuzhanova, 2010, Human Genomics.

A meta‐analysis of nonsense mutations causing human genetic disease

Matthew Mort, David N. Cooper, Nadia A. Chuzhanova, 2008, Human mutation.

Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Peter D Stenson, David N Cooper, Nadia Chuzhanova, 2005, Human mutation.

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

E. Haan, D. Baralle, D. Evans, 2007, American journal of human genetics.

The Somatic Mutational Spectrum of the NF1 Gene

D. Cooper, N. Chuzhanova, M. Upadhyaya, 2012 .

Germline and somatic NF1 gene mutation spectrum in NF1‐associated malignant peripheral nerve sheath tumors (MPNSTs)

N. Thomas, G. Spurlock, A. Guha, 2008, Human mutation.

A Role for Non‐B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease

D. Cooper, A. Bacolla, N. Chuzhanova, 2016, Human mutation.

Breakpoints of gross deletions coincide with non-B DNA conformations.

David N Cooper, Nadia Chuzhanova, John P Jakupciak, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination‐associated motifs

Michael Krawczak, David N Cooper, Nadia Chuzhanova, 2003, Human mutation.

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

Michael Krawczak, David N Cooper, Nadia Chuzhanova, 2003, Human mutation.

Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.

P. D. de Jong, D. Cooper, H. Hameister, 2005, Genome research.

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

D. Cooper, N. Chuzhanova, U. Kini, 2012, Human Genomics.

Gene Conversion in Evolution and Disease

D. Cooper, G. Patrinos, N. Chuzhanova, 2009 .

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type‐3 NF1 deletions

Antje M Zickler, H. Kestler, D. Cooper, 2012, Human mutation.

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

D. Cooper, M. Krawczak, M. Horan, 2009, Human mutation.

Evolution of the proximal promoter region of the mammalian growth hormone gene.

D. Cooper, M. Krawczak, N. Chuzhanova, 1999, Gene.

Complex gene rearrangements caused by serial replication slippage

P. Stenson, D. Cooper, N. Chuzhanova, 2005, Human mutation.

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

Matthew Mort, Peter D Stenson, David N Cooper, 2010, Human Genomics.

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

Michael Krawczak, Peter D Stenson, David N Cooper, 2005, Human mutation.

Gene conversion causing human inherited disease: Evidence for involvement of non‐B‐DNA‐forming sequences and recombination‐promoting motifs in DNA breakage and repair

Nadia Chuzhanova, D. Cooper, R. Wells, 2009, Human mutation.

High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization

J. Dumanski, G. Spurlock, A. Guha, 2008, Clinical Cancer Research.

High-Resolution DNACopyNumber ProfilingofMalignant Peripheral Nerve SheathTumors UsingTargetedMicroarray-Based Comparative Genomic Hybridization

J. Dumanski, G. Spurlock, A. Guha, 2008 .

Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species

Yongmei Ji, P. Brzoska, C. Cummings, 2012, PloS one.

On the complexity measures of genetic sequences

Vladimir D. Gusev, Lubov A. Nemytikova, Nadia A. Chuzhanova, 1999, Bioinform..

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

D. Cooper, L. Biesecker, J. Johnston, 2003, Human Genetics.

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

Iain S Donnison, I. Donnison, N. Chuzhanova, 2007, BMC Evolutionary Biology.

A rare complex DNA rearrangement in the murine Steel gene results in exon duplication and a lethal phenotype.

David A. Williams, D. Cooper, N. Chuzhanova, 2003, Blood.

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families

N. Chuzhanova, J. Zeman, M. Jirsa, 2013, Clinical genetics.

Non-B DNA-forming Sequences and WRN Deficiency Independently Increase the Frequency of Base Substitution in Human Cells*

D. Cooper, J. Collins, A. Bacolla, 2011, The Journal of Biological Chemistry.

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

David N. Cooper, Nadia A. Chuzhanova, Josef Högel, 2009, Chromosome Research.

Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.

D. Cooper, N. Chuzhanova, C. Férec, 2007, Molecular genetics and metabolism.

THE EVOLUTION OF THE VERTEBRATE β-GLOBIN GENE PROMOTER

D. Cooper, M. Krawczak, N. Thomas, 2002, Evolution; international journal of organic evolution.

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

D. Cooper, N. Thomas, S. Hamby, 2011, Human Genomics.

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD

D. Cooper, N. Chuzhanova, M. Kamat, 2015, Human Genomics.

Genome‐wide high‐resolution analysis of DNA copy number alterations in NF1‐associated malignant peripheral nerve sheath tumors using 32K BAC array

R. Andersson, T. de Ståhl, U. Menzel, 2009, Genes, chromosomes & cancer.

Searching for potential microRNA-binding site mutations amongst known disease-associated 3′ UTR variants

D. Cooper, N. Chuzhanova, C. Férec, 2007, Genomic Medicine.

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1

D. Cooper, S. Hamby, N. Chuzhanova, 2013, Human Genomics.

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome

D. Cooper, H. Hameister, H. Kehrer-Sawatzki, 2005, Human Genetics.

Modelling the impact of structural directionality on connectome-based models of neural activity

Amelia Padmore, M. R. Nelson, Nadia Chuzhanova, 2020, J. Complex Networks.

Cruciform-forming inverted repeats mediated many microinversions that distinguish the human and chimpanzee genomes

D. Cooper, J. Högel, H. Kehrer-Sawatzki, 2009 .

In Silico Discrimination of Single Nucleotide Polymorphisms and Pathological Mutations in Human Gene Promoter Regions by Means of Local DNA Sequence Context and Regularity

Matthew E. Mort, David N. Cooper, Nadia A. Chuzhanova, 2006, Silico Biol..

A numerical simulation of neural fields on curved geometries

R. Martin, Jonathan J. Crofts, D. J. Chappell, 2018, Journal of Computational Neuroscience.

Collocation Methods for Solving Two-Dimensional Neural Field Models on Complex Triangulated Domains

Jonathan J. Crofts, R. Martin, Dj Chappell, 2017 .

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.

N. Chuzhanova, M. Schiff, M. Miné, 2006, Molecular genetics and metabolism.

At least one in twenty 16 S rRNA sequence records currently held in public 1 repositories estimated to contain substantial anomalies

Antonia J. Jones, A. J. Jones, John C. Fry, 2005 .

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

D. Cooper, N. Chuzhanova, U. Kini, 2012, Human Genomics.

Heredity Indexes for Estimating Heritability Using Known and Unknown Family Data Based on the Model of Polygenic Inheritance

N. Chuzhanova, Hui Liu, 2020 .

Network motif frequency vectors reveal evolving metabolic network organisation.

Jonathan J Crofts, Nicole Pearcy, Nadia Chuzhanova, 2015, Molecular bioSystems.

THE EVOLUTION OF THE VERTEBRATE β‐GLOBIN GENE PROMOTER

D. Cooper, M. Krawczak, N. Thomas, 2002 .

Can linear collocation ever beat quadratic

J. J. Crofts, N. Chuzhanova, R. Martin, 2017 .

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

S. Huson, G. Spurlock, N. Chuzhanova, 2009, Journal of Medical Genetics.

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes)

M. Platzer, D. Cooper, H. Hameister, 2005, Human mutation.

Genes, mutations and human inherited disease at the dawn of the 100K mutome era

D. Cooper, M. Mort, E. Ball, 2010 .

New Screening Software Shows that Most Recent Large 16S rRNA Gene Clone Libraries Contain Chimeras

A. J. Jones, N. Chuzhanova, J. Fry, 2006, Applied and Environmental Microbiology.

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

I. Donnison, N. Chuzhanova, I. Scott, 2007, BMC Evolutionary Biology.

Hypergraph models of metabolism

Jonathan J. Crofts, Nicole Pearcy, Nadia Chuzhanova, 2014 .