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Nadia Chuzhanova

University of Central Lancashire

H指数:40

被引数:7,549

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

IF3.9

2019-12-038

OAAI

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

SCIENTIFIC REPORTS

IF3.9

2019-11-296

OAAI

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

IF3.7

2015-11-0219

OAAI

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

远程作用SMCHD1基因调控元件: FSHD患者潜在调控变异的计算机预测和鉴定

IF4.3

2015-10-070

OAAI

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

IF4.3

2013-08-154

OAAI

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

IF3.7

2012-08-2028

PRE

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

1型神经纤维瘤病 (NF1) 的基因型-表型关联: NF1剪接位点突变患者的肿瘤并发症风险增加？

IF4.3

2012-08-1358

OAAI

Characterization of the Nonallelic Homologous Recombination Hotspot PRS3 Associated with Type-3 NF1 Deletions

IF3.7

2011-12-0926

OAAI

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

探索与NF1皮肤神经纤维瘤相关的体细胞NF1突变谱

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2011-11-2325

OAAI

Comparative Analysis of Germline and Somatic Microlesion Mutational Spectra in 17 Human Tumor Suppressor Genes

IF3.7

2011-03-229

OAAI

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

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2011-03-0128

OAAI

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

BMC MICROBIOLOGY

IF4.2

2011-01-0122

OAAI

Intrachromosomal Mitotic Nonallelic Homologous Recombination Is the Major Molecular Mechanism Underlying Type-2 NF1 Deletions

IF3.7

2010-09-2830

OAAI

Genes, Mutations, and Human Inherited Disease at the Dawn of the Age of Personalized Genomics

IF3.7

2010-04-13139

OAAI

A Novel Third Type of Recurrent NF1 Microdeletion Mediated by Nonallelic Homologous Recombination between LRRC37B-Containing Low-Copy Repeats in 17q11.2

IF3.7

2010-04-0638

OAAI

Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci

IF3.7

2010-01-0527

OAAI

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

IF3.7

2009-11-0136

OAAI

Complement component C7 deficiency in four Irish families: The characterisation of a large genomic deletion within the C7 gene

MOLECULAR IMMUNOLOGY

IF3

2009-09-010

PREAI

Gene Conversion Causing Human Inherited Disease: Evidence for Involvement of Non-B-DNA-Forming Sequences and Recombination-Promoting Motifs in DNA Breakage and Repair

导致人类遗传疾病的基因转换: 非b-dna形成序列和重组促进基序参与DNA断裂和修复的证据

IF3.7

2009-08-0154

OAAI

Genome-Wide High-Resolution Analysis of DNA Copy Number Alterations in NFI-Associated Malignant Peripheral Nerve Sheath Tumors Using 32K BAC Array

GENES CHROMOSOMES & CANCER

IF2.8

2009-07-1439

OAAI