Nadia Chuzhanova
机构: Professor of Biomedical Mathematics, Nottingham Trent University, UK
每年引用次数
引用次数
引用: 8,647
H-指数: 42
I10-指数 : 73
出版物: 121
On the complexity measures of genetic sequences
V. D.Gusev , L. A.Nemytikova , N. A.Chuzhanova
Bioinformatics 15 ( 12) 994 -999
135
1999
Evolutionary hierarchies of conserved blocks in 5'-noncoding sequences of dicot rbcS genes
Katie E Weeks , Nadia A Chuzhanova , Iain S Donnison , Ian M Scott
BMC Evolutionary Biology 7 ( 1) 51 -51
7
2007
Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene
David S Millar , Martin Horan , Nadia A Chuzhanova , David N Cooper
Human Genomics 4 ( 5) 289 -301
44
2010
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
David N Cooper , Matthew Mort , Peter D Stenson , Edward V Ball
Human Genomics 4 ( 6) 406 -410
93
2010
Evolution of the proximal promoter region of the mammalian growth hormone gene.
Michael Krawczak , Nadia A Chuzhanova , David N Cooper
Gene 237 ( 1) 143 -151
45
1999
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
Katharina Steinmann , David N Cooper , Lan Kluwe , Nadia A Chuzhanova
American Journal of Human Genetics 81 ( 6) 1201 -1220
54
2007
Complexity measures of symbolic sequences and their application to DNA analysis
M Krawczak , N Chuzhanova , D Cooper , Gusev
2000
Can linear collocation ever beat quadratic
N Chuzhanova , JJ Crofts , DJ Chappell , R Martin
Nottingham Trent University: Publications
2017
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype
G Spurlock , E Bennett , N Chuzhanova , N Thomas
Journal of Medical Genetics 46 ( 7) 431 -437
69
2009
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
G Storkanova , H Vlaskova , N Chuzhanova , J Zeman
Clinical Genetics 84 ( 6) 552 -559
10
2013
Synchrony in directed connectomes
JJ Crofts , N Chuzhanova , A Padmore , MR Nelson
Europhysics Letters 139 ( 4) 42004
2022
Gross deletions and translocations in human genetic disease
SS Abeysinghe , N Chuzhanova , David Neil Cooper
Genome and disease 1 17 -34
17
2006
Rapid screening of large genomic rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene by Quantitative Multiplex Polymerase Chain Reaction of Short Fluorescent Fragments (QMPSF) analysis: high detection rate and diverse mutational mechanisms
C Ferec , JM Chen , O Raguenes , N Chuzhanova
American Journal of Human Genetics 73 ( 5) 559 -559
2
2003
Genes, mutations and human inherited disease at the dawn of the 100K mutome era
DN Cooper , JM Chen , EV Ball , K Howells
Human Mutation 31 631 -655
2010
Genotype-phenotype correlations in neurofibromatosis type 1 (NF1): an increased risk of tumour complications in patients with NF1 splice site mutations?
A Alkindy , N Chuzhanova , U Kini , DN Cooper
Genomic Medicine 6 ( 12)
2012
Gains-of-glycosylation: a large group of pathogenic loss-of-function mutations amenable to chemical complementation in humans
G Vogt , A Chapgier , K Yang , N Chuzhanova
Nature Genetics 37 692 -700
2005
An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c. 2970_2972 deIAAT
M Upadhyaya , SM Huson , M Davies , S Giovannini
Journal of Medical Genetics 43 S75 -S75
2006
A 3914 BP DELETION IN THE PDHX GENE IN A PATIENT WITH PYRUVATE DEHYDROGENASE (PDH) DEFICIENCY
M Mine , M Schif , M Brivet , H Ogier
JOURNAL OF INHERITED METABOLIC DISEASE 28 123 -123
2005
A compound heterozygote carrying a novel indel mutation in Familial Intrahepatic Cholestasis 1 (ATP8B1) gene presenting benign recurrent intrahepatic cholestasis
D Cebecauerova , L Budisova , P Taimr , L Dvorakova
Hepatology Research 30 1 -3
2004
Identification of an intronic regulatory element in the human protein C (PROC) gene.
K. Shamsher , A. Chuzhanova , Brad Friedman , A. Scopes
Human Genetics 107 ( 5) 458 -465
21
2000