List of works - Nadia Chuzhanova

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

scientific article published in February 2009

A meta-analysis of nonsense mutations causing human genetic disease

scientific article published in August 2008

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

scientific article published on May 2011

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

scientific article published on 11 May 2006

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

scientific article

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

scientific article published on 01 June 2010

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

scientific article published on 24 July 2003

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

scientific article published in April 2010

At least 1 in 20 16S rRNA sequence records currently held in public repositories is estimated to contain substantial anomalies

scientific article published in December 2005

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

scientific article published in January 2005

Breakpoints of gross deletions coincide with non-B DNA conformations

scholarly article

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

scientific article published on 09 December 2011

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

article

Comparative analysis of genome sequences covering the seven cronobacter species

scientific article

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

scientific article published on 22 March 2011

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

scientific article

Complex gene rearrangements caused by serial replication slippage

article

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

scientific article published on 28 May 2009

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

scientific article published in September 1999

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

scientific article

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

scientific article published on 23 November 2011

Gain-of-glycosylation mutations

scientific article published on 30 April 2007

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

scientific article

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

scientific article

Gene conversion: mechanisms, evolution and human disease

scientific article

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

scientific article published on June 2010

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

scientific article published on 01 October 2009

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

scientific article published in April 2004

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

scientific article

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

article

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

article

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

scientific article published in February 2008

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

scientific article

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

article

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

scientific article published on 20 August 2012

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

scientific article

Indel in the FIC1/ATP8B1 gene?a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

article

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

scientific article

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

scientific article published in October 2010

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

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

scientific article

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

article

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

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

scientific article published in September 2005

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

scientific article

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

scientific article

New screening software shows that most recent large 16S rRNA gene clone libraries contain chimeras

scientific article published in September 2006

Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells

scientific article

Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

scientific article published on 01 January 2006

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

scientific article published on 7 February 2013

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

scientific article published on 29 November 2019

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

scientific article published in August 2000

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

scientific article

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

scientific article published on 15 August 2013

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

scientific article published on 30 January 2007

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

scientific article published on 17 February 2009

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

scientific article

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

scientific article published in September 2003

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

scientific article published on 20 September 2008

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

scientific article published on 31 October 2007

List of works by Nadia Chuzhanova

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

A meta-analysis of nonsense mutations causing human genetic disease

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

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

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

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

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

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

At least 1 in 20 16S rRNA sequence records currently held in public repositories is estimated to contain substantial anomalies

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

Breakpoints of gross deletions coincide with non-B DNA conformations

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

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

Comparative analysis of genome sequences covering the seven cronobacter species

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

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

Complex gene rearrangements caused by serial replication slippage

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

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

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

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

Gain-of-glycosylation mutations

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

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

Gene conversion: mechanisms, evolution and human disease

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

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

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

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

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

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

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

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

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

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

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

Indel in the FIC1/ATP8B1 gene?a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

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

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

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

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

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

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

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

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

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

New screening software shows that most recent large 16S rRNA gene clone libraries contain chimeras

Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells

Origin of the prevalentSFTPBindel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

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

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

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

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

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

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

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

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

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

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