The human gene mutation database.

PANTHER: a library of protein families and subfamilies indexed by function. Genome Res (2003) 21.64

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet (2008) 7.36

Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet (1999) 2.79

Determining the identifiability of DNA database entries. Proc AMIA Symp (2000) 2.08

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet (1998) 2.06

Structure of the integrin binding fragment from fibrillin-1 gives new insights into microfibril organization. Structure (2004) 1.97

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet (2000) 1.78

Structure-function relationships in alpha-galactosidase A. Acta Paediatr Suppl (2007) 1.64

PARSESNP: A tool for the analysis of nucleotide polymorphisms. Nucleic Acids Res (2003) 1.63

Atlas of genetics and cytogenetics in oncology and haematology, an interactive database. Nucleic Acids Res (2000) 1.54

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet (2003) 1.42

The functional importance of disease-associated mutation. BMC Bioinformatics (2002) 1.41

Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? Am J Hum Genet (1998) 1.29

The exchangeability of amino acids in proteins. Genetics (2005) 1.23

Mutator phenotype induced by aberrant replication. Mol Cell Biol (1999) 1.18

Genetic and clinical characterisation of familial adenomatous polyposis: a population based study. Gut (2002) 1.16

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am J Hum Genet (1998) 1.13

Efficient use of a 'dead-end' GA 5' splice site in the human fibroblast growth factor receptor genes. EMBO J (2003) 1.11

Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci U S A (1999) 1.05

Congenital nephrogenic diabetes insipidus: the current state of affairs. Pediatr Nephrol (2012) 1.04

Placental anti-oxidant gene polymorphisms, enzyme activity, and oxidative stress in preeclampsia. Placenta (2008) 1.00

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry (1999) 0.99

Multi-exon deletions of the FBN1 gene in Marfan syndrome. BMC Med Genet (2001) 0.97

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). J Med Genet (1999) 0.95

The molecular and genetic base of congenital transport defects. Gut (2000) 0.93

Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant. J Inherit Metab Dis (2003) 0.88

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease. Hum Genet (2003) 0.86

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. Am J Hum Genet (2002) 0.82

BEST1: the Best Target for Gene and Cell Therapies. Mol Ther (2015) 0.81

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. Am J Ophthalmol (2015) 0.79

Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. Biologics (2008) 0.78

EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome. BMC Genomics (2014) 0.76

Mutational Spectrum Analysis of Neurodegenerative Diseases and Its Pathogenic Implication. Int J Mol Sci (2015) 0.75

Genetic counselling for hypertrophic cardiomyopathy: are we ready for it? Curr Control Trials Cardiovasc Med (2000) 0.75

Digital PCR for discriminating mosaic deletions and for determining proportion of tumor cells in specimen. Eur J Hum Genet (2016) 0.75

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet (1992) 8.20

Human gene mutation database-a biomedical information and research resource. Hum Mutat (2000) 6.87

An estimate of unique DNA sequence heterozygosity in the human genome. Hum Genet (1985) 4.75

Galectins. Structure and function of a large family of animal lectins. J Biol Chem (1994) 4.29

Galectins: a family of animal beta-galactoside-binding lectins. Cell (1994) 3.99

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet (1991) 3.48

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. Am J Hum Genet (1998) 3.12

DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet (1984) 2.79

Unmethylated domains in vertebrate DNA. Nucleic Acids Res (1983) 2.58

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet (1997) 2.37

Human Gene Mutation Database: towards a comprehensive central mutation database. J Med Genet (2008) 2.37

Regional mapping of six cloned DNA sequences on human chromosome 7. Am J Hum Genet (1986) 2.26

Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet (1990) 2.21

Discoidin I is implicated in cell-substratum attachment and ordered cell migration of Dictyostelium discoideum and resembles fibronectin. Cell (1984) 1.82

Human gene cloning: the storm before the lull? Nature (1986) 1.78

A new pathway for protein export in Saccharomyces cerevisiae. J Cell Biol (1996) 1.66

Efflux of radiolabeled polyethylene glycols and albumin from rat brain. Am J Physiol (1981) 1.62

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet (2000) 1.61

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59

Eukaryotic DNA methylation. Hum Genet (1983) 1.57

Diagnosis of genetic disease using recombinant DNA. Supplement. Hum Genet (1987) 1.50

L-29, an endogenous lectin, binds to glycoconjugate ligands with positive cooperativity. Biochemistry (1993) 1.47

p53 mutations, benzo[a]pyrene and lung cancer. Mutagenesis (1998) 1.47

Relationship between asthma and gastro-oesophageal reflux. Thorax (1981) 1.45

Late-onset homozygous protein C deficiency. Lancet (1991) 1.43

Adult-onset genetic disease: mechanisms, analysis and prediction. QJM (1997) 1.39

The molecular genetics of growth hormone deficiency. Hum Genet (1998) 1.33

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet (1998) 1.29

Localization of a human heat-shock HSP 70 gene sequence to chromosome 6 and detection of two other loci by somatic-cell hybrid and restriction fragment length polymorphism analysis. Hum Genet (1987) 1.28

Restriction fragment length polymorphisms at the human parathyroid hormone gene locus. Hum Genet (1984) 1.27

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res (1991) 1.26

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet (2005) 1.26

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet (2010) 1.23

Disease-causing mutations in the human genome. Eur J Pediatr (2000) 1.22

Human gene cloning and disease analysis. Lancet (1987) 1.22

D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology (2003) 1.20

Diagnosis of genetic disease using recombinant DNA. Hum Genet (1986) 1.20

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Hum Genet (1991) 1.16

Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost (1997) 1.15

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. J Med Genet (2003) 1.15

Human type I hair keratin pseudogene phihHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence. Hum Genet (2001) 1.15

Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selection. Hum Mutat (1995) 1.12

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. Mol Psychiatry (2012) 1.09

Informativity assessment for biallelic single nucleotide polymorphisms. Electrophoresis (1999) 1.09

The effect of replication errors on the mismatch analysis of PCR-amplified DNA. Nucleic Acids Res (1990) 1.08

Expression of the 67-kD laminin receptor, galectin-1, and galectin-3 in advanced human uterine adenocarcinoma. Hum Pathol (1996) 1.08

Revealing the human mutome. Clin Genet (2010) 1.08

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene. Hum Genet (2001) 1.07

Application of the polymerase chain reaction to the diagnosis of human genetic disease. Hum Genet (1990) 1.06

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. Hum Genet (1990) 1.04

The alpha7beta1 integrin mediates adhesion and migration of skeletal myoblasts on laminin. Exp Cell Res (1997) 1.04

Flow of cerebral interstitial fluid as indicated by the removal of extracellular markers from rat caudate nucleus. Exp Eye Res (1977) 1.04

Selective modulation of the interaction of alpha 7 beta 1 integrin with fibronectin and laminin by L-14 lectin during skeletal muscle differentiation. J Cell Sci (1994) 1.03

A list of cloned human DNA sequences. Hum Genet (1983) 1.02

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes? J Med Genet (2008) 1.01

Discoidin I and discoidin II are localized differently in developing Dictyostelium discoideum. J Cell Biol (1983) 1.00

Core database. Nature (1995) 0.98

Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost (1993) 0.98

Galectin-1 modulates human melanoma cell adhesion to laminin. Biochem Biophys Res Commun (1995) 0.95

Human Gene Mutation Database. Hum Genet (1996) 0.95

Differential expression of endogenous galectin-1 and galectin-3 in human prostate cancer cell lines and effects of overexpressing galectin-1 on cell phenotype. Int J Oncol (1999) 0.94

Precursor-product relationship between vitellogenin and the yolk proteins as derived from the complete sequence of a Xenopus vitellogenin gene. Nucleic Acids Res (1987) 0.94

Evolution of the proximal promoter region of the mammalian growth hormone gene. Gene (1999) 0.94

Assessing radiation-associated mutational risk to the germline: repetitive DNA sequences as mutational targets and biomarkers. Radiat Res (2006) 0.93

Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost (1993) 0.92

Protein S deficiency: a database of mutations--summary of the first update. Thromb Haemost (2000) 0.92

Rat olfactory neurons can utilize the endogenous lectin, L-14, in a novel adhesion mechanism. Development (1994) 0.91

The mutational demography of protein C deficiency. Hum Genet (1995) 0.90

Estimating the efficacy and efficiency of cascade genetic screening. Am J Hum Genet (2001) 0.90

Chicken lens delta-crystallin gene expression and methylation in several non-lens tissues. Nucleic Acids Res (1983) 0.90

Sequence and mapping of galectin-5, a beta-galactoside-binding lectin, found in rat erythrocytes. J Biol Chem (1995) 0.89

Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene. Gene (2000) 0.89

Single base-pair substitutions in pathology and evolution: two sides to the same coin. Hum Mutat (1996) 0.89

Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier. Mol Biol Med (1990) 0.88

Molecular analysis of the genotype-phenotype relationship in factor X deficiency. Hum Genet (2000) 0.86

Discoidin I, an endogenous lectin, is externalized from Dictyostelium discoideum in multilamellar bodies. J Cell Biol (1985) 0.86

DNA methylation and CpG suppression. Cell Differ (1985) 0.86

Characterization of the interaction between galectin-1 and lymphocyte glycoproteins CD45 and Thy-1. Glycobiology (2000) 0.84

Colocalization of discoidin-binding ligands with discoidin in developing Dictyostelium discoideum. Dev Biol (1984) 0.84

Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions. Hum Genet (2000) 0.84

Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours. Hum Genet (2000) 0.84

Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition. Clin Genet (2012) 0.84

Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-delta F508 mutations in German cystic fibrosis patients. Hum Genet (1992) 0.83

Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost (1997) 0.83

Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis. Hum Genet (1994) 0.83

A molecular genetic study of factor XI deficiency. Blood (1991) 0.83

Induction of differentiation and apoptosis in the prostate cancer cell line LNCaP by sodium butyrate and galectin-1. Int J Oncol (1999) 0.83

Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts. Hum Genet (1992) 0.83

Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53. Hum Genet (1999) 0.83

Evidence for a protein S receptor(s) on human vascular smooth muscle cells. Analysis of the binding characteristics and mitogenic properties of protein S on human vascular smooth muscle cells. Biochem J (1995) 0.83

Molecular reconstruction and homology modelling of the catalytic domain of the common ancestor of the haemostatic vitamin-K-dependent serine proteinases. Hum Genet (1996) 0.83

Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. Hum Genet (2000) 0.83

Expression and developmental regulation of two unique mRNAs specific to brain membrane-bound polyribosomes. Biochem J (1987) 0.82

A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency. Br J Haematol (1993) 0.82

Inherited factor VII deficiency: genetics and molecular pathology. Thromb Haemost (1995) 0.82

Gross deletions and translocations in human genetic disease. Genome Dyn (2006) 0.82

A list of cloned human DNA sequences--supplement. Hum Genet (1984) 0.82

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics (1992) 0.82

A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. Blood Coagul Fibrinolysis (1994) 0.81