Published in Am J Hum Genet on March 22, 2000
Review series: The cell biology of hearing. J Cell Biol (2010) 2.29
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet (2004) 1.88
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. PLoS One (2013) 1.77
Genetics and pathological mechanisms of Usher syndrome. J Hum Genet (2010) 1.69
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A (2007) 1.64
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet (2001) 1.49
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet (2010) 1.35
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet (2006) 1.27
Primary cilia in planar cell polarity regulation of the inner ear. Curr Top Dev Biol (2008) 1.23
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet (2008) 1.15
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis (2011) 1.09
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. Eur J Hum Genet (2008) 1.09
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci (2008) 1.08
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Mol Vis (2013) 1.02
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS One (2012) 1.01
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. Mol Vis (2011) 1.00
Molecular epidemiology of Usher syndrome in Italy. Mol Vis (2011) 0.97
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. J Hum Genet (2009) 0.96
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II. Mol Vis (2008) 0.95
Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. PLoS One (2014) 0.94
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. J Hum Genet (2012) 0.92
DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes. Nucleic Acids Res (2005) 0.90
Deafness and retinal degeneration in a novel USH1C knock-in mouse model. Dev Neurobiol (2010) 0.89
The USH2A c.2299delG mutation: dating its common origin in a Southern European population. Eur J Hum Genet (2010) 0.87
Current understanding of usher syndrome type II. Front Biosci (Landmark Ed) (2012) 0.85
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur J Hum Genet (2015) 0.83
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients. J Hum Genet (2014) 0.79
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa. Mol Vis (2014) 0.79
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. Mol Vis (2015) 0.78
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. Mol Vis (2014) 0.76
Glutathione transferase theta in apical ciliary tuft regulates mechanical reception and swimming behavior of Sea Urchin Embryos. Cytoskeleton (Hoboken) (2013) 0.75
Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa. Mol Vis (2012) 0.75
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. Sci Rep (2017) 0.75
Coats-like lesions in Usher syndrome type II. Graefes Arch Clin Exp Ophthalmol (2003) 0.75
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol Vis (2017) 0.75
Hearing aid fitting for visual and hearing impaired patients with Usher Syndrome type IIa. Clin Otolaryngol (2016) 0.75
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol Genet Genomic Med (2017) 0.75
A catalogue of splice junction sequences. Nucleic Acids Res (1982) 39.41
Identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites. Protein Eng (1997) 38.38
Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res (1988) 32.89
The molecular biology of axon guidance. Science (1996) 11.90
The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform. J Cell Biol (1997) 3.34
Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis (1983) 2.98
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science (1998) 2.84
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet (1999) 2.75
Macromolecular organization of basement membranes. Curr Opin Cell Biol (1996) 2.72
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet (1994) 2.72
UNC-6, a laminin-related protein, guides cell and pioneer axon migrations in C. elegans. Neuron (1992) 2.54
Laminin polymerization induces a receptor-cytoskeleton network. J Cell Biol (1999) 2.36
Neuroglia and pioneer neurons express UNC-6 to provide global and local netrin cues for guiding migrations in C. elegans. Neuron (1996) 2.14
Self-assembly and calcium-binding sites in laminin. A three-arm interaction model. J Biol Chem (1993) 2.01
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics (1992) 1.85
Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol (1999) 1.70
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet (1996) 1.69
Localization of Usher syndrome type II to chromosome 1q. Genomics (1990) 1.67
Identification of a novel mutant transcript of laminin alpha 2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice. Hum Mol Genet (1995) 1.49
Characterization and expression of the laminin gamma3 chain: a novel, non-basement membrane-associated, laminin chain. J Cell Biol (1999) 1.44
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet (1999) 1.42
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet (1995) 1.42
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Hum Mol Genet (1997) 1.34
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet (1999) 1.24
Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet (1994) 1.14
Role of dystrophin isoforms and associated proteins in muscular dystrophy (review). Int J Mol Med (1998) 1.07
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. J Med Genet (2000) 1.02
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. Br J Dermatol (1998) 0.83
A histologic study of nonmorphogenetic forms of hereditary hearing impairment. Arch Otolaryngol Head Neck Surg (1992) 0.81
Gene mapping of the Usher syndromes. Otolaryngol Clin North Am (1992) 0.79
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science (1996) 6.56
Quantitative trait locus for reading disability on chromosome 6. Science (1994) 6.07
Chlamydia pneumoniae infection of the central nervous system in multiple sclerosis. Ann Neurol (1999) 5.83
Preliminary definition of improvement in juvenile arthritis. Arthritis Rheum (1997) 5.57
Perspectives on the basic reproductive ratio. J R Soc Interface (2005) 5.34
Surgical correction of anatomic azbnormalities in obstructive sleep apnea syndrome: uvulopalatopharyngoplasty. Otolaryngol Head Neck Surg (1982) 4.91
The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. Nucleic Acids Res (1999) 4.74
Value-based pathology: a cost-benefit analysis of the examination of routine and nonroutine tonsil and adenoid specimens. Am J Clin Pathol (1997) 4.51
Theoretical and experimental studies on viscoelastic properties of erythrocyte membrane. Biophys J (1978) 4.27
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet (1998) 3.94
AIM-1: a mammalian midbody-associated protein required for cytokinesis. EMBO J (1998) 3.73
Volatile organic compounds in breath as markers of lung cancer: a cross-sectional study. Lancet (1999) 3.70
Selective inhibition of receptor-coupled phospholipase C-dependent processes in human platelets and polymorphonuclear neutrophils. J Pharmacol Exp Ther (1990) 3.55
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet (2000) 3.48
Recombinant vaccinia virus primes and stimulates influenza haemagglutinin-specific cytotoxic T cells. Nature (1984) 3.21
Correlation of serum interleukin-6 levels with joint involvement and thrombocytosis in systemic juvenile rheumatoid arthritis. Arthritis Rheum (1991) 2.91
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int (1992) 2.89
Cadherin dysfunction in a human cancer cell line: possible involvement of loss of alpha-catenin expression in reduced cell-cell adhesiveness. Cancer Res (1992) 2.89
Methotrexate as a possible trigger of macrophage activation syndrome in systemic juvenile idiopathic arthritis. J Rheumatol (2001) 2.85
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science (1998) 2.84
Aromatase-deficient (ArKO) mice have a phenotype of increased adiposity. Proc Natl Acad Sci U S A (2000) 2.83
Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet (1997) 2.82
The gut: a central organ after surgical stress. Surgery (1988) 2.76
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet (1994) 2.72
Insulin receptor phosphorylation, insulin receptor substrate-1 phosphorylation, and phosphatidylinositol 3-kinase activity are decreased in intact skeletal muscle strips from obese subjects. J Clin Invest (1995) 2.66
Impact of graft size mismatching on graft prognosis in liver transplantation from living donors. Transplantation (1999) 2.61
Flow Characteristics of Human Erythrocytes through Polycarbonate Sieves. Science (1967) 2.61
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA (1999) 2.56
Cross-cultural adaptation and psychometric evaluation of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ) in 32 countries. Review of the general methodology. Clin Exp Rheumatol (2001) 2.55
Blood viscosity: influence of erythrocyte deformation. Science (1967) 2.55
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet (1998) 2.52
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet (1998) 2.51
The interaction of leukocytes and erythrocytes in capillary and postcapillary vessels. Microvasc Res (1980) 2.49
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet (2001) 2.48
Organization of AMPA receptor subunits at a glutamate synapse: a quantitative immunogold analysis of hair cell synapses in the rat organ of Corti. J Neurosci (1996) 2.48
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet (2001) 2.48
Effects of hematocrit and plasma proteins on human blood rheology at low shear rates. J Appl Physiol (1966) 2.45
Abrogation of the alternative complement pathway by targeted deletion of murine factor B. Proc Natl Acad Sci U S A (1997) 2.44
Abnormal rheology of oxygenated blood in sickle cell anemia. J Clin Invest (1970) 2.42
The [18F]fluorodeoxyglucose method for the measurement of local cerebral glucose utilization in man. Circ Res (1979) 2.41
Genetic--epidemiologic study of early-onset ischemic heart disease. Circulation (1980) 2.36
Congenital cytomegalovirus infection. N Engl J Med (1977) 2.35
Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet (2000) 2.29
The type I macrophage scavenger receptor binds to gram-positive bacteria and recognizes lipoteichoic acid. Proc Natl Acad Sci U S A (1994) 2.22
Weaning of immunosuppression in living donor liver transplant recipients. Transplantation (2001) 2.18
Broadband observations of the naked-eye gamma-ray burst GRB 080319B. Nature (2008) 2.16
In vivo measurements of "apparent viscosity" and microvessel hematocrit in the mesentery of the cat. Microvasc Res (1980) 2.16
Pelvic autonomic nerve preservation for patients with rectal carcinoma. Oncologic and functional outcome. Cancer (1996) 2.13
Interleukin 6 causes growth impairment in transgenic mice through a decrease in insulin-like growth factor-I. A model for stunted growth in children with chronic inflammation. J Clin Invest (1997) 2.11
A re-examination of risk estimates from the NIOSH Occupational Noise and Hearing Survey (ONHS) J Acoust Soc Am (1997) 2.09
Congenital cytomegalovirus infection: diagnostic and prognostic significance of the detection of specific immunoglobulin M antibodies in cord serum. Pediatrics (1982) 2.07
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) Pediatrics (1999) 2.05
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med (Berl) (2000) 2.04
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med (1994) 2.03
Alteration in the rheologic properties of Plasmodium knowlesi--infected red cells. A possible mechanism for capillary obstruction. J Clin Invest (1971) 2.01
NS398, a selective cyclooxygenase-2 inhibitor, induces apoptosis and down-regulates bcl-2 expression in LNCaP cells. Cancer Res (1998) 2.00
Control of expression of Agrobacterium vir genes by synergistic actions of phenolic signal molecules and monosaccharides. Proc Natl Acad Sci U S A (1990) 1.98
Oral challenge tests for urticaria--an ethical dilemma. Br J Dermatol (1994) 1.98
Genetic analysis of lon mutants of strain K-12 of Escherichia coli. Mol Gen Genet (1968) 1.97
Fluid shear stress induces a biphasic response of human monocyte chemotactic protein 1 gene expression in vascular endothelium. Proc Natl Acad Sci U S A (1994) 1.96
Specific reading disability: identification of an inherited form through linkage analysis. Science (1983) 1.94
Pattern formation in the blue-green alga, Anabaena. I. Basic mechanisms. J Cell Sci (1973) 1.92
Variation in volatile organic compounds in the breath of normal humans. J Chromatogr B Biomed Sci Appl (1999) 1.91
Metabolic imaging of malignant pleural mesothelioma with fluorodeoxyglucose positron emission tomography. Chest (1998) 1.91
Cell distribution in capillary networks. Microvasc Res (1980) 1.91
Localization of two genes for Usher syndrome type I to chromosome 11. Genomics (1992) 1.90
Camptodactyly and simialr atraumatic flexion deformities of the proximal interphalangeal joints of the fingers. A study of thirty-one cases. J Bone Joint Surg Am (1968) 1.89
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Surgical techniques and innovations in living related liver transplantation. Ann Surg (1993) 1.88
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet (2002) 1.86
Molecular mechanism of endothelial growth arrest by laminar shear stress. Proc Natl Acad Sci U S A (2000) 1.83
Ultraviolet sensitivity gene of Escherichia coli B. J Bacteriol (1968) 1.83
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet (1999) 1.82
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet (2001) 1.81
Blood viscosity: influence of erythrocyte aggregation. Science (1967) 1.80
Influence of physicochemical factors on rheology of human neutrophils. Biophys J (1982) 1.80
Eye signs in craniopharyngioma. Br J Ophthalmol (1975) 1.80
Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet (2004) 1.80
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics (1992) 1.79
Abnormal expression of CD44 variants in the exfoliated cells in the feces of patients with colorectal cancer. Gastroenterology (1998) 1.78
Sustained endotoxemia leads to marked down-regulation of early steps in the insulin-signaling cascade. Crit Care Med (2001) 1.78
Retrovirus vector silencing is de novo methylase independent and marked by a repressive histone code. EMBO J (2000) 1.78
Inhibition of cyclooxygenase-2 suppresses angiogenesis and the growth of prostate cancer in vivo. J Urol (2000) 1.78
Pattern formation in the blue-green alga Anabaena. II. Controlled proheterocyst regression. J Cell Sci (1973) 1.78
Recurrent meningitis and Mondini dysplasia. Arch Otolaryngol Head Neck Surg (1990) 1.77
Quantitative analysis of cell proliferation and differentiation in the cortex of the postnatal mouse cerebellum. J Cell Biol (1967) 1.77
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat (2001) 1.77
Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation. Colorectal Dis (2009) 1.75
H3-thymidine autoradiographic studies on the cell proliferation and differentiation in the external and the internal granular layers of the mouse cerebellum. J Comp Neurol (1966) 1.75
Effect of ethambutol on the viable cell count in Mycobacterium smegmatis. Antimicrob Agents Chemother (1977) 1.72
A simplified method for culture of endothelial cells and analysis of adhesion of blood cells under conditions of flow. Microvasc Res (1993) 1.71
Glutamine metabolism by the intestinal tract. JPEN J Parenter Enteral Nutr (1985) 1.71