| 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 | 952 | 2005 |
| 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 | 785 | 2006 |
| 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 | 743 | 2007 |
| 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 | 461 | 2008 |
| 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 | 417 | 2007 |
| 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 | 278 | 2003 |
| 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 | 245 | 2005 |
| 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 | 234 | 2010 |
| 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 | 234 | 2004 |
| On the complexity measures of genetic sequences V D. Gusev, L A. Nemytikova, N A. Chuzhanova Bioinformatics 15 (12), 994-999, 1999 | 186 | 1999 |
| 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 | 185 | 2005 |
| 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 | 169 | 2005 |
| 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 | 165 | 2010 |
| 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 | 155 | 2004 |
| 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 | 148 | 2003 |
| 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 | 141 | 2012 |
| 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 | 139 | 2008 |
| Feature selection for genetic sequence classification. NA Chuzhanova, AJ Jones, S Margetts Bioinformatics (Oxford, England) 14 (2), 139-143, 1998 | 139 | 1998 |
| 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 | 136 | 2008 |
| 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 | 128 | 2003 |
