Published in Hum Mutat on January 01, 2008
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45
Sharing data between LSDBs and central repositories. Hum Mutat (2009) 1.57
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat (2008) 1.44
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat (2010) 1.31
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res (2011) 1.11
VarioML framework for comprehensive variation data representation and exchange. BMC Bioinformatics (2012) 0.95
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol (2013) 0.89
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families. Database (Oxford) (2013) 0.83
Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory. Oncologist (2017) 0.82
Computational approaches to study the effects of small genomic variations. J Mol Model (2015) 0.81
Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations. Haematologica (2010) 0.79
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD. BMC Bioinformatics (2017) 0.75
Reporting of Genetic Variants by Diagnostic Laboratories and other Centres. Clin Biochem Rev (2012) 0.75
The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease. Pediatr Nephrol (2014) 0.75
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res (2005) 30.44
Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
A database of locus-specific databases. Nat Genet (2007) 3.83
Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database. Hum Mutat (2004) 3.34
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat (2005) 2.86
Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res (2002) 1.95
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
What is the human variome project? Nat Genet (2007) 1.78
UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat (2000) 1.74
PAHdb 2003: what a locus-specific knowledgebase can do. Hum Mutat (2003) 1.60
A survey of locus-specific database curation. Human Genome Variation Society. J Med Genet (2007) 1.50
Immunodeficiency mutation databases (IDbases). Hum Mutat (2006) 1.37
Genetics. Working the (gene count) numbers: finally, a firm answer? Science (2007) 1.18
The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease association. Hum Mutat (2004) 1.12
MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics (1999) 1.09
Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue. Hum Mutat (2000) 1.03
Analysis of published PKD1 gene sequence variants. Nat Genet (2007) 0.98
The KMDB/MutationView: a mutation database for human disease genes. Nucleic Acids Res (2001) 0.87
The Ensembl genome database project. Nucleic Acids Res (2002) 40.87
A gene map of the human genome. Science (1996) 14.32
A physical map of 30,000 human genes. Science (1998) 12.43
Ensembl 2002: accommodating comparative genomics. Nucleic Acids Res (2003) 12.26
Ensembl 2004. Nucleic Acids Res (2004) 11.88
Report of the Committee on the Genetic Constitution of Chromosomes 1 and 2. Cytogenet Cell Genet (1985) 7.70
Characterization of a panel of highly variable minisatellites cloned from human DNA. Ann Hum Genet (1987) 7.58
AdipoQ is a novel adipose-specific gene dysregulated in obesity. J Biol Chem (1996) 6.93
P450 genes: structure, evolution, and regulation. Annu Rev Biochem (1987) 6.72
Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee. Genomics (1997) 6.44
P450 superfamily: update on new sequences, gene mapping, accession numbers and nomenclature. Pharmacogenetics (1996) 6.12
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science (1997) 6.10
Targeted disruption of the mouse Caspase 8 gene ablates cell death induction by the TNF receptors, Fas/Apo1, and DR3 and is lethal prenatally. Immunity (1998) 6.07
Immune system impairment and hepatic fibrosis in mice lacking the dioxin-binding Ah receptor. Science (1995) 6.03
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet (1993) 5.97
Genome sequence of Halobacterium species NRC-1. Proc Natl Acad Sci U S A (2000) 5.87
Hematopoietic reconstitution in a patient with Fanconi's anemia by means of umbilical-cord blood from an HLA-identical sibling. N Engl J Med (1989) 5.81
Database of p53 gene somatic mutations in human tumors and cell lines. Nucleic Acids Res (1994) 5.64
A note on competing risks in survival data analysis. Br J Cancer (2004) 5.60
Mammalian genes coordinately regulated by growth arrest signals and DNA-damaging agents. Mol Cell Biol (1989) 5.25
Transcription and processing of intervening sequences in yeast tRNA genes. Cell (1978) 5.07
Dynamic molecular combing: stretching the whole human genome for high-resolution studies. Science (1997) 4.86
Use of pharmacogenetic and clinical factors to predict the therapeutic dose of warfarin. Clin Pharmacol Ther (2008) 4.54
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
HGVbase: a human sequence variation database emphasizing data quality and a broad spectrum of data sources. Nucleic Acids Res (2002) 4.08
A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res (1991) 3.89
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet (1998) 3.76
Substrate-inducible microsomal aryl hydroxylase in mammalian cell culture. I. Assay and properties of induced enzyme. J Biol Chem (1968) 3.74
Chromosomal mapping of two genetic loci associated with blood-pressure regulation in hereditary hypertensive rats. Nature (1991) 3.74
Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. Nature (1988) 3.69
Advocacy and compliance in genetic screening. Behavior of physicians and clients in a voluntary program of testing for the Tay-Sachs gene. N Engl J Med (1974) 3.47
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet (1999) 3.44
The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet (1995) 3.41
Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet (1990) 3.28
Systematic cloning of human minisatellites from ordered array charomid libraries. Genomics (1990) 3.21
A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics (1988) 3.18
A new direct-viewing chemotaxis chamber. J Cell Sci (1991) 2.99
COPD prevalence in a random population survey: a matter of definition. Eur Respir J (2007) 2.97
The P450 gene superfamily: recommended nomenclature. DNA (1987) 2.95
Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet (1987) 2.95
Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study. Blood (1994) 2.93
Risk of venous thromboembolism in users of hormone replacement therapy. Lancet (1996) 2.92
SNP association studies in Alzheimer's disease highlight problems for complex disease analysis. Trends Genet (2001) 2.86
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet (1998) 2.77
Dynamic allele-specific hybridization. A new method for scoring single nucleotide polymorphisms. Nat Biotechnol (1999) 2.75
Genes for immunoglobulin heavy chains and for alpha 1-antitrypsin are localized to specific regions of chromosome 14q. Nature (1982) 2.75
Cloning of yeast transfer RNA genes in Escherichia coli. Science (1977) 2.73
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet (2001) 2.71
Evolution of the P450 gene superfamily: animal-plant 'warfare', molecular drive and human genetic differences in drug oxidation. Trends Genet (1990) 2.63
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc Natl Acad Sci U S A (1976) 2.59
Reactions of N-ethylmaleimide with peptides and amino acids. Biochem J (1964) 2.56
The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence. Pharmacogenetics (1997) 2.55
Splinkerettes--improved vectorettes for greater efficiency in PCR walking. Nucleic Acids Res (1995) 2.51
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood (2001) 2.50
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord (2011) 2.47
The use of biochemical data in screening for mutant alleles and in genetic counselling. Ann Hum Genet (1974) 2.43
IMGT, the international ImMunoGeneTics database. Nucleic Acids Res (1997) 2.43
Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity. Circ Res (2000) 2.39
Ultrasound-guided internal radiotherapy using yttrium-90-glass microspheres for liver malignancies. J Nucl Med (1996) 2.38
Antagonist discrimination between ganglionic and ileal muscarinic receptors. Br J Pharmacol (1980) 2.31
Knowledge about and attitudes toward genetic screening among high-school students: the Tay-Sachs experience. Pediatrics (1977) 2.29
Beta-thalassemia disease prevention: genetic medicine applied. Am J Hum Genet (1984) 2.27
Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens. Nature (1976) 2.24
The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? FEBS Lett (2000) 2.24
Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell (1988) 2.24
Restriction fragment length polymorphisms associated with immunoglobulin C gamma genes reveal linkage disequilibrium and genomic organization. Proc Natl Acad Sci U S A (1983) 2.23
The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J (1973) 2.22
Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features. Oncogene (1999) 2.19
Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): design criteria and assay validation. Genome Res (2001) 2.19
The effect of Mendelian disease on human health: a measurement. Am J Med Genet (1985) 2.18
Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol (1993) 2.16
Inherited variations in human phosphohexose isomerase. Ann Hum Genet (1968) 2.16
Transient tyrosinemia of the newborn: dietary and clinical aspects. Pediatrics (1967) 2.15
Association between human rhinovirus C and severity of acute asthma in children. Eur Respir J (2010) 2.15
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
A functional update of the Escherichia coli K-12 genome. Genome Biol (2001) 2.12
Aromatic interactions define the binding of the alphavirus spike to its nucleocapsid. Structure (1996) 2.12
Human dioxin-inducible cytochrome P1-450: complementary DNA and amino acid sequence. Science (1985) 2.11
Screening, counselling and treatment of hereditary metabolic disease; a survey of resources in Canada. Can Med Assoc J (1974) 2.11
Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet (1993) 2.08
Presenilin-I, presenilin-II, and VLDL-R associations in early onset Alzheimer's disease. Lancet (1997) 2.06
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal. Am J Med Genet (1984) 2.04
Alignment of fibroblasts on grooved surfaces described by a simple geometric transformation. J Cell Sci (1986) 2.03
Characteristics of four new human cell lines derived from squamous cell carcinomas of the head and neck. J Natl Cancer Inst (1985) 2.03
DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature (1985) 2.03
Assignment of the structural gene for the third component of human complement to chromosome 19. Proc Natl Acad Sci U S A (1982) 2.00
Quality of life measured by the St George's Respiratory Questionnaire and spirometry. Eur Respir J (2009) 1.99
Cost-benefit analysis of a thalassemia disease prevention program. Am J Public Health (1985) 1.99
The stereochemistry of the hydrogen elimination in the biological conversion of cholest-7-en-3-beta-ol into cholesterol. Biochem J (1967) 1.98
Induction of thymidylate synthase as a 5-fluorouracil resistance mechanism. Biochim Biophys Acta (2002) 1.98
Axonal GABA-receptors in mammalian peripheral nerve trunks. Brain Res (1978) 1.97
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet (2005) 1.96
A unified approach to analysing cell motility. J Cell Sci Suppl (1987) 1.95
The limb-girdle muscular dystrophies--proposal for a new nomenclature. Neuromuscul Disord (1995) 1.95
The HUGO Mutation Database Initiative. Science (1998) 1.95
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. Nat Med (1999) 1.94
Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature (1983) 1.94
Tissue culture model of transitional cell carcinoma: characterization of twenty-two human urothelial cell lines. Cancer Res (1986) 1.94
Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools. Am J Hum Genet (1996) 1.94