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Nadia Chuzhanova
Nadia Chuzhanova
Professor of Biomedical Mathematics, Nottingham Trent University, UK
在 ntu.ac.uk 的电子邮件经过验证
标题
引用次数
引用次数
年份
At least 1 in 20 16S rRNA sequence records currently held in public repositories is estimated to contain substantial anomalies
KE Ashelford, NA Chuzhanova, JC Fry, AJ Jones, AJ Weightman
Applied and environmental microbiology 71 (12), 7724-7736, 2005
9522005
New screening software shows that most recent large 16S rRNA gene clone libraries contain chimeras
KE Ashelford, NA Chuzhanova, JC Fry, AJ Jones, AJ Weightman
Applied and environmental microbiology 72 (9), 5734-5741, 2006
7852006
Gene conversion: mechanisms, evolution and human disease
JM Chen, DN Cooper, N Chuzhanova, C Férec, GP Patrinos
Nature Reviews Genetics 8 (10), 762-775, 2007
7432007
A meta‐analysis of nonsense mutations causing human genetic disease
M Mort, D Ivanov, DN Cooper, NA Chuzhanova
Human mutation 29 (8), 1037-1047, 2008
4612008
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 …
M Upadhyaya, SM Huson, M Davies, N Thomas, N Chuzhanova, ...
The American Journal of Human Genetics 80 (1), 140-151, 2007
4172007
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination‐associated motifs
SS Abeysinghe, N Chuzhanova, M Krawczak, EV Ball, DN Cooper
Human mutation 22 (3), 229-244, 2003
2782003
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
G Vogt, A Chapgier, K Yang, N Chuzhanova, J Feinberg, C Fieschi, ...
Nature genetics 37 (7), 692-700, 2005
2452005
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
DN Cooper, JM Chen, EV Ball, K Howells, M Mort, AD Phillips, ...
Human mutation 31 (6), 631-655, 2010
2342010
Breakpoints of gross deletions coincide with non-B DNA conformations
A Bacolla, A Jaworski, JE Larson, JP Jakupciak, N Chuzhanova, ...
Proceedings of the National Academy of Sciences 101 (39), 14162-14167, 2004
2342004
On the complexity measures of genetic sequences
V D. Gusev, L A. Nemytikova, N A. Chuzhanova
Bioinformatics 15 (12), 994-999, 1999
1861999
Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
JM Chen, N Chuzhanova, PD Stenson, C Férec, DN Cooper
Human mutation 25 (2), 207-221, 2005
1852005
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity
EV Ball, PD Stenson, SS Abeysinghe, M Krawczak, DN Cooper, ...
Human mutation 26 (3), 205-213, 2005
1692005
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
DN Cooper, M Mort, PD Stenson, EV Ball, NA Chuzhanova
Human genomics 4, 1-5, 2010
1652010
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
MP Audrézet, JM Chen, O Raguénes, N Chuzhanova, K Giteau, ...
Human mutation 23 (4), 343-357, 2004
1552004
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer
C Turner, C Killoran, NST Thomas, M Rosenberg, NA Chuzhanova, ...
Human genetics 112, 303-309, 2003
1482003
Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species
S Joseph, P Desai, Y Ji, CA Cummings, R Shih, L Degoricija, A Rico, ...
PLoS One 7 (11), e49455, 2012
1412012
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization
KK Mantripragada, G Spurlock, L Kluwe, N Chuzhanova, RE Ferner, ...
Clinical cancer research 14 (4), 1015-1024, 2008
1392008
Feature selection for genetic sequence classification.
NA Chuzhanova, AJ Jones, S Margetts
Bioinformatics (Oxford, England) 14 (2), 139-143, 1998
1391998
Germline and somatic NF1 gene mutation spectrum in NF1‐associated malignant peripheral nerve sheath tumors (MPNSTs)
M Upadhyaya, L Kluwe, G Spurlock, B Monem, E Majounie, ...
Human mutation 29 (1), 74-82, 2008
1362008
Meta‐analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity
NA Chuzhanova, EJ Anassis, EV Ball, M Krawczak, DN Cooper
Human mutation 21 (1), 28-44, 2003
1282003
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