Published in Hum Mol Genet on October 01, 2001
PyCogent: a toolkit for making sense from sequence. Genome Biol (2007) 20.64
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res (2005) 5.62
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet (2007) 5.17
Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet (2004) 4.61
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res (2006) 4.00
Generalized genomic distance-based regression methodology for multilocus association analysis. Am J Hum Genet (2006) 3.79
Quantitative estimates of sequence divergence for comparative analyses of mammalian genomes. Genome Res (2003) 3.52
PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res (2006) 3.04
Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc Natl Acad Sci U S A (2004) 3.03
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Genome-wide identification of genes likely to be involved in human genetic disease. Nucleic Acids Res (2004) 2.86
Odor coding by a Mammalian receptor repertoire. Sci Signal (2009) 2.84
In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat (2008) 2.73
The amino-acid mutational spectrum of human genetic disease. Genome Biol (2003) 2.55
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Hum Genet (2004) 2.53
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet (2004) 2.40
Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome. BMC Genomics (2006) 1.87
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res (2004) 1.74
An ancient evolutionary origin of genes associated with human genetic diseases. Mol Biol Evol (2008) 1.73
Further understanding human disease genes by comparing with housekeeping genes and other genes. BMC Genomics (2006) 1.68
Ancient mtDNA genetic variants modulate mtDNA transcription and replication. PLoS Genet (2009) 1.58
Parallel evolution of chimeric fusion genes. Proc Natl Acad Sci U S A (2005) 1.45
The functional importance of disease-associated mutation. BMC Bioinformatics (2002) 1.41
Analytical methods for inferring functional effects of single base pair substitutions in human cancers. Hum Genet (2009) 1.39
Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations. Trends Genet (2011) 1.38
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease. Mol Genet Metab (2007) 1.31
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet (2003) 1.29
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A (2006) 1.28
Advances in translational bioinformatics: computational approaches for the hunting of disease genes. Brief Bioinform (2009) 1.27
Functional genomics of membrane transporters in human populations. Genome Res (2005) 1.27
Positional conservation and amino acids shape the correct diagnosis and population frequencies of benign and damaging personal amino acid mutations. Genome Res (2009) 1.26
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms. Nucleic Acids Res (2005) 1.12
PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes. Nucleic Acids Res (2005) 1.08
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab (2009) 1.07
Evolutionary distance estimation and fidelity of pair wise sequence alignment. BMC Bioinformatics (2005) 1.06
Function-altering SNPs in the human multidrug transporter gene ABCB1 identified using a Saccharomyces-based assay. PLoS Genet (2007) 1.04
An analysis of unclassified missense substitutions in human BRCA1. Fam Cancer (2006) 1.04
Human genomic disease variants: a neutral evolutionary explanation. Genome Res (2012) 1.02
Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. Clin Genet (2011) 0.99
The use of orthologous sequences to predict the impact of amino acid substitutions on protein function. PLoS Genet (2010) 0.97
Candidate gene association studies: a comprehensive guide to useful in silico tools. BMC Genet (2013) 0.95
Structural dynamics flexibility informs function and evolution at a proteome scale. Evol Appl (2013) 0.95
Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease. Genome Biol Evol (2013) 0.93
FunSAV: predicting the functional effect of single amino acid variants using a two-stage random forest model. PLoS One (2012) 0.92
Site-directed mutations and the polymorphic variant Ala160Thr in the human thromboxane receptor uncover a structural role for transmembrane helix 4. PLoS One (2012) 0.92
Exhaustive prediction of disease susceptibility to coding base changes in the human genome. BMC Bioinformatics (2008) 0.90
Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet J Rare Dis (2013) 0.90
A framework for exploring functional variability in olfactory receptor genes. PLoS One (2007) 0.88
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. Neuromuscul Disord (2009) 0.87
SNPs occur in regions with less genomic sequence conservation. PLoS One (2011) 0.86
A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene. World J Gastroenterol (2005) 0.86
Evolutionary analyses of KCNQ1 and HERG voltage-gated potassium channel sequences reveal location-specific susceptibility and augmented chemical severities of arrhythmogenic mutations. BMC Evol Biol (2008) 0.85
A protein domain-centric approach for the comparative analysis of human and yeast phenotypically relevant mutations. BMC Genomics (2013) 0.85
Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans. Mamm Genome (2006) 0.85
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2). Theranostics (2014) 0.85
Relative effects of mutability and selection on single nucleotide polymorphisms in transcribed regions of the human genome. BMC Genomics (2008) 0.83
Computational approaches to study the effects of small genomic variations. J Mol Model (2015) 0.81
Relating the disease mutation spectrum to the evolution of the cystic fibrosis transmembrane conductance regulator (CFTR). PLoS One (2012) 0.81
Exploiting CpG hypermutability to identify phenotypically significant variation within human protein-coding genes. Genome Biol Evol (2011) 0.81
Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. Hum Mutat (2013) 0.81
Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain. PLoS One (2011) 0.80
Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis. Gene (2008) 0.80
In silico analysis of functional single nucleotide polymorphisms in the human TRIM22 gene. PLoS One (2014) 0.79
Structural assessment of the effects of amino acid substitutions on protein stability and protein protein interaction. Int J Comput Biol Drug Des (2011) 0.79
A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment. Biomed Res Int (2014) 0.78
Structure and stability insights into tumour suppressor p53 evolutionary related proteins. PLoS One (2013) 0.78
Tools for Predicting the Functional Impact of Nonsynonymous Genetic Variation. Genetics (2016) 0.77
Functional coding variants in SLC6A15, a possible risk gene for major depression. PLoS One (2013) 0.77
Efforts to make and apply humanized yeast. Brief Funct Genomics (2015) 0.77
EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome. BMC Genomics (2014) 0.76
KinView: a visual comparative sequence analysis tool for integrated kinome research. Mol Biosyst (2016) 0.76
P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization. PLoS One (2013) 0.76
Understanding pathogenic single-nucleotide polymorphisms in multidomain proteins--studies of isolated domains are not enough. FEBS J (2013) 0.76
Codon-based detection of positive selection can be biased by heterogeneous distribution of polar amino acids along protein sequences. Comput Syst Bioinformatics Conf (2006) 0.76
Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL. Biomed Res Int (2015) 0.76
A Protein Domain and Family Based Approach to Rare Variant Association Analysis. PLoS One (2016) 0.75
Semirational Directed Evolution of Loop Regions in Aspergillus japonicus β-Fructofuranosidase for Improved Fructooligosaccharide Production. Appl Environ Microbiol (2015) 0.75
Structural mutation analysis of PTEN and its genotype-phenotype correlations in endometriosis and cancer. Proteins (2016) 0.75
Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. Hum Mol Genet (2017) 0.75
Evolutionary Diagnosis of non-synonymous variants involved in differential drug response. BMC Med Genomics (2015) 0.75
Using Disease-Associated Coding Sequence Variation to Investigate Functional Compensation by Human Paralogous Proteins. Evol Bioinform Online (2015) 0.75
Accurate prediction of functional effects for variants by combining gradient tree boosting with optimal neighborhood properties. PLoS One (2017) 0.75
The optimization principle in phylogenetic analysis tends to give incorrect topologies when the number of nucleotides or amino acids used is small. Proc Natl Acad Sci U S A (1998) 15.43
A protein kinase involved in the regulation of inflammatory cytokine biosynthesis. Nature (1995) 11.89
Classification of cell death: recommendations of the Nomenclature Committee on Cell Death 2009. Cell Death Differ (2008) 10.45
A new method of inference of ancestral nucleotide and amino acid sequences. Genetics (1995) 10.23
Molecular definitions of cell death subroutines: recommendations of the Nomenclature Committee on Cell Death 2012. Cell Death Differ (2011) 9.44
HhaI methyltransferase flips its target base out of the DNA helix. Cell (1994) 8.72
Incomplete taxon sampling is not a problem for phylogenetic inference. Proc Natl Acad Sci U S A (2001) 8.53
Analysis of the RNA-recognition motif and RS and RGG domains: conservation in metazoan pre-mRNA splicing factors. Nucleic Acids Res (1993) 6.15
Strong coupling of a single photon to a superconducting qubit using circuit quantum electrodynamics. Nature (2004) 4.54
Continental breakup and the ordinal diversification of birds and mammals. Nature (1996) 4.44
Identification of mesenchymal stem/progenitor cells in human first-trimester fetal blood, liver, and bone marrow. Blood (2001) 4.22
Folding funnels, binding funnels, and protein function. Protein Sci (1999) 4.22
Crystal structure of the HhaI DNA methyltransferase complexed with S-adenosyl-L-methionine. Cell (1993) 3.96
Lipopolysaccharide activates an innate immune system response in human adipose tissue in obesity and type 2 diabetes. Am J Physiol Endocrinol Metab (2006) 3.84
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet (2000) 3.73
Guidelines for the use and interpretation of assays for monitoring cell death in higher eukaryotes. Cell Death Differ (2009) 3.44
The hPLIC proteins may provide a link between the ubiquitination machinery and the proteasome. Mol Cell (2000) 3.39
Angiogenesis induced by degradation products of hyaluronic acid. Science (1985) 3.37
p300/MDM2 complexes participate in MDM2-mediated p53 degradation. Mol Cell (1998) 3.27
Recoverin: a calcium sensitive activator of retinal rod guanylate cyclase. Science (1991) 3.27
Folding funnels and binding mechanisms. Protein Eng (1999) 3.25
Complete amino acid sequence of the catalytic subunit of bovine cardiac muscle cyclic AMP-dependent protein kinase. Proc Natl Acad Sci U S A (1981) 3.07
Divergence time estimates for the early history of animal phyla and the origin of plants, animals and fungi. Proc Biol Sci (1999) 3.04
Role of angiogenesis in patients with cerebral ischemic stroke. Stroke (1994) 2.96
Amino acid sequence of human von Willebrand factor. Biochemistry (1986) 2.73
Nedd5, a mammalian septin, is a novel cytoskeletal component interacting with actin-based structures. Genes Dev (1997) 2.60
A new nomenclature for IL-1-family genes. Trends Immunol (2001) 2.57
Identification of mitogen-activated protein (MAP) kinase-activated protein kinase-3, a novel substrate of CSBP p38 MAP kinase. J Biol Chem (1996) 2.55
Prognostic impact of lymphadenectomy in uterine serous cancer. BJOG (2012) 2.54
Tempo and mode of nucleotide substitutions in gag and env gene fragments in human immunodeficiency virus type 1 populations with a known transmission history. J Virol (1997) 2.47
Does nonneutral evolution shape observed patterns of DNA variation in animal mitochondrial genomes? Annu Rev Genet (2001) 2.46
Overexpression of the c-erbB-2 oncoprotein in human breast carcinomas: immunohistological assessment correlates with gene amplification. Lancet (1987) 2.44
Human origins and analysis of mitochondrial DNA sequences. Science (1992) 2.43
Human placenta protein-tyrosine-phosphatase: amino acid sequence and relationship to a family of receptor-like proteins. Proc Natl Acad Sci U S A (1989) 2.40
Prevalence of dementia in a rural setting: A report from India. Int J Geriatr Psychiatry (1997) 2.39
Does central obesity reflect "Cushing's disease of the omentum"? Lancet (1997) 2.34
Neurotoxicity associated with dual actions of homocysteine at the N-methyl-D-aspartate receptor. Proc Natl Acad Sci U S A (1997) 2.32
Pyridinyl imidazole inhibitors of p38 mitogen-activated protein kinase bind in the ATP site. J Biol Chem (1997) 2.28
International myeloma working group consensus statement and guidelines regarding the current role of imaging techniques in the diagnosis and monitoring of multiple Myeloma. Leukemia (2009) 2.28
Properties of adenyl cyclase and cyclic adenosine 3',5'-monophosphate receptor protein-deficient mutants of Escherichia coli. J Bacteriol (1976) 2.27
Production of "authentic" poliovirus RNA-dependent RNA polymerase (3D(pol)) by ubiquitin-protease-mediated cleavage in Escherichia coli. Protein Expr Purif (1999) 2.24
Enhanced diabetes care to patients of south Asian ethnic origin (the United Kingdom Asian Diabetes Study): a cluster randomised controlled trial. Lancet (2008) 2.21
Improvement of cast nephropathy with plasma exchange depends on the diagnosis and on reduction of serum free light chains. Kidney Int (2008) 2.21
Detection of convergent and parallel evolution at the amino acid sequence level. Mol Biol Evol (1997) 2.15
A modified protocol for rapid DNA isolation from plant tissues using cetyltrimethylammonium bromide. Nat Protoc (2006) 2.14
Negative regulation of cytochrome c-mediated oligomerization of Apaf-1 and activation of procaspase-9 by heat shock protein 90. EMBO J (2000) 2.13
Acquisition of sensitivity of stress-activated protein kinases to the p38 inhibitor, SB 203580, by alteration of one or more amino acids within the ATP binding pocket. J Biol Chem (1998) 2.12
Inhibition of p38 MAP kinase as a therapeutic strategy. Immunopharmacology (2000) 2.12
Water supplementation in exclusively breastfed infants during summer in the tropics. Lancet (1991) 2.09
Fulminant EBV(+) T-cell lymphoproliferative disorder following acute/chronic EBV infection: a distinct clinicopathologic syndrome. Blood (2000) 2.09
Cytotoxic T cells recognize a peptide from the circumsporozoite protein on malaria-infected hepatocytes. J Exp Med (1990) 2.09
On appetite and its loss. J Clin Oncol (2000) 2.06
Cell death by autophagy: facts and apparent artefacts. Cell Death Differ (2011) 2.06
Nedd4-like proteins: an emerging family of ubiquitin-protein ligases implicated in diverse cellular functions. Trends Cell Biol (1999) 2.03
Type 2 diabetes and cardiovascular risk in the UK south Asian community. Diabetologia (2006) 2.02
Thalidomide as initial therapy for early-stage myeloma. Leukemia (2003) 2.02
Complete amino acid sequence of rabbit muscle glycogen phosphorylase. Proc Natl Acad Sci U S A (1977) 2.00
DNA-dependent protein kinase catalytic subunit: a target for an ICE-like protease in apoptosis. EMBO J (1996) 1.97
Small-sample tests of episodic adaptive evolution: a case study of primate lysozymes. Mol Biol Evol (1997) 1.97
DRONC, an ecdysone-inducible Drosophila caspase. Proc Natl Acad Sci U S A (1999) 1.94
A systematic review of guidelines for the prevention of heat illness in community-based sports participants and officials. J Sci Med Sport (2006) 1.94
Protection against malaria by vaccination with sporozoite surface protein 2 plus CS protein. Science (1991) 1.94
Sacrococcygeal pilonidal sinus: historical review, pathological insight and surgical options. Tech Coloproctol (2003) 1.94
Inhibition of p38 mitogen-activated protein kinase decreases cardiomyocyte apoptosis and improves cardiac function after myocardial ischemia and reperfusion. Circulation (1999) 1.93
Oral Salmonella: malaria circumsporozoite recombinants induce specific CD8+ cytotoxic T cells. J Exp Med (1990) 1.93
Time to stop counting the tablets? Clin Pharmacol Ther (1989) 1.88
Expression and antigenicity of Plasmodium falciparum major merozoite surface protein (MSP1(19)) variants secreted from Saccharomyces cerevisiae. Mol Biochem Parasitol (1994) 1.86
Caspase-2 is not required for thymocyte or neuronal apoptosis even though cleavage of caspase-2 is dependent on both Apaf-1 and caspase-9. Cell Death Differ (2002) 1.85
Heat reactivation of the alpha-hemolytic, dermonecrotic, lethal activities of crude and purified staphylococcal alpha-toxin. J Bacteriol (1966) 1.83
HELANAL: a program to characterize helix geometry in proteins. J Biomol Struct Dyn (2000) 1.82
Long-term cost-effectiveness of weight management in primary care. Int J Clin Pract (2010) 1.81
p38 mitogen-activated protein kinase inhibitors--mechanisms and therapeutic potentials. Pharmacol Ther (1999) 1.80
Pulse energy dependence of subcellular dissection by femtosecond laser pulses. Opt Express (2005) 1.79
The biochemical mechanism of caspase-2 activation. Cell Death Differ (2004) 1.78
Prognostic value of the serum free light chain ratio in newly diagnosed myeloma: proposed incorporation into the international staging system. Leukemia (2008) 1.77
Pomalidomide (CC4047) plus low dose dexamethasone (Pom/dex) is active and well tolerated in lenalidomide refractory multiple myeloma (MM). Leukemia (2010) 1.77
Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics (1993) 1.77
Nedd4 and Nedd4-2: closely related ubiquitin-protein ligases with distinct physiological functions. Cell Death Differ (2010) 1.77
Emission of nitrous oxide from rice-wheat systems of Indo-Gangetic plains of India. Environ Monit Assess (2002) 1.75
Association of obesity and physical activity in adult males of Dharan, Nepal. Kathmandu Univ Med J (KUMJ) (2008) 1.74
Amino acid sequence of the regulatory subunit of bovine type I adenosine cyclic 3',5'-phosphate dependent protein kinase. Biochemistry (1984) 1.74
Hsp27 functions as a negative regulator of cytochrome c-dependent activation of procaspase-3. Oncogene (2000) 1.72
How to run an effective journal club: a systematic review. J Eval Clin Pract (2008) 1.71
Increased incidence of Staphylococcus aureus bacteremia in hospitalized patients with acquired immunodeficiency syndrome. Clin Infect Dis (2001) 1.70
Character and spatial distribution of OH/H2O on the surface of the Moon seen by M3 on Chandrayaan-1. Science (2009) 1.70
Serum high molecular weight complex of adiponectin correlates better with glucose tolerance than total serum adiponectin in Indo-Asian males. Diabetologia (2005) 1.69
Interferon gamma release assay (QuantiFERON-TB Gold In Tube) in patients of sarcoidosis from a population with high prevalence of tuberculosis infection. Sarcoidosis Vasc Diffuse Lung Dis (2011) 1.68
Nasogastric tube insertion in difficult cases with the aid of a flexible nasendoscope. J Laryngol Otol (2011) 1.68
Mycobacterium tuberculosis H(37)Ra ESAS-7-An excretory-secretory antigen fraction of immunodiagnostic potential in pulmonary tuberculosis. Indian J Clin Biochem (1998) 1.67
The effect of hyaluronate and its oligosaccharides on endothelial cell proliferation and monolayer integrity. Exp Cell Res (1989) 1.67
Phase I/IIa safety, immunogenicity, and efficacy trial of NYVAC-Pf7, a pox-vectored, multiantigen, multistage vaccine candidate for Plasmodium falciparum malaria. J Infect Dis (1998) 1.66
Approximate methods for estimating the pattern of nucleotide substitution and the variation of substitution rates among sites. Mol Biol Evol (1996) 1.66
A practical guide to defining high-risk myeloma for clinical trials, patient counseling and choice of therapy. Leukemia (2007) 1.66
Real-time magnetic resonance image-guided interstitial brachytherapy in the treatment of select patients with clinically localized prostate cancer. Int J Radiat Oncol Biol Phys (1998) 1.66
Peptide antibody specific for the amino terminus of skeletal muscle alpha-actin. Proc Natl Acad Sci U S A (1983) 1.63
Malabsorption of rifampin and isoniazid in HIV-infected patients with and without tuberculosis. Clin Infect Dis (2003) 1.63
Regulation of the Src family tyrosine kinase Blk through E6AP-mediated ubiquitination. Proc Natl Acad Sci U S A (1999) 1.63