Published in Am J Hum Genet on July 01, 1999
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet (2002) 2.49
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet (2001) 1.76
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Strain background effects and genetic modifiers of hearing in mice. Brain Res (2006) 1.53
Digenic inheritance in medical genetics. J Med Genet (2013) 1.38
Saturation of the human phenome. Curr Genomics (2010) 1.09
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. Hum Mol Genet (2009) 1.06
Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton. J Biol Chem (2009) 1.03
A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. Am J Hum Genet (2008) 0.95
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet (2015) 0.87
The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene. J Neurosci (2012) 0.87
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Modifiers of hearing impairment in humans and mice. Curr Genomics (2010) 0.79
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Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet (1997) 3.26
Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes. Proc Natl Acad Sci U S A (2000) 3.10
The translational regulator CPEB1 provides a link between dcp1 bodies and stress granules. J Cell Sci (2005) 2.86
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68
A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus. Hum Genet (1998) 2.44
Tuberculosis treatment programmes in low-income countries. Lancet (1994) 2.31
A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am J Hum Genet (1998) 2.23
Regulation of pim and myb mRNA accumulation by interleukin 2 and interleukin 3 in murine hematopoietic cell lines. J Biol Chem (1988) 2.19
Targets for global tuberculosis control. Int J Tuberc Lung Dis (2006) 2.16
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet (2005) 2.11
Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene. J Biol Chem (1985) 2.09
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet (2001) 2.06
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet (1999) 2.00
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Am J Hum Genet (1982) 1.98
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet (1986) 1.92
Nosocomial Legionnaires' disease caused by aerosolized tap water from respiratory devices. J Infect Dis (1982) 1.81
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
Distinctive genetic signatures in the Libyan Jews. Proc Natl Acad Sci U S A (2001) 1.78
Systematic screening for active tuberculosis: rationale, definitions and key considerations. Int J Tuberc Lung Dis (2013) 1.70
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet (1994) 1.67
In vivo kinetics of mRNA splicing and transport in mammalian cells. Mol Cell Biol (2002) 1.63
Connexin 26 gene linked to a dominant deafness. Nature (1998) 1.62
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet (1997) 1.59
Association of heparanase gene (HPSE) single nucleotide polymorphisms with hematological malignancies. Leukemia (2007) 1.54
Isolation and characterisation of a cDNA clone for human apolipoprotein CI and assignment of the gene to chromosome 19. Hum Genet (1985) 1.53
Genetic variation of three tetrameric tandem repeats in four distinct Israeli ethnic groups. J Forensic Sci (1999) 1.53
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum Mol Genet (1999) 1.44
Endemic and epidemic aspergillosis associated with in-hospital replication of Aspergillus organisms. J Infect Dis (1991) 1.38
The genes coding for A alpha-, B beta-, and gamma-chains of fibrinogen map to 4q2. Am J Hum Genet (1984) 1.30
GW body disassembly triggered by siRNAs independently of their silencing activity. Nucleic Acids Res (2007) 1.29
BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet (1998) 1.29
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. Am J Hum Genet (1997) 1.26
Organization of the human pro-alpha 2(I) collagen gene. J Biol Chem (1987) 1.24
Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13. Am J Hum Genet (1987) 1.24
Human cellular fibronectin: comparison of the carboxyl-terminal portion with rat identifies primary structural domains separated by hypervariable regions. Biochemistry (1985) 1.23
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet (2008) 1.21
COMT haplotypes suggest P2 promoter region relevance for schizophrenia. Mol Psychiatry (2004) 1.21
Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1). Gene (1989) 1.21
The structural gene for aldolase B (ALDB) maps to 9q13----32. Ann Hum Genet (1985) 1.19
A specific promoter of the sensory cells of the inner ear defined by transgenesis. Hum Mol Genet (2001) 1.19
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet (2001) 1.17
Torsion of the gallbladder in children. J Pediatr Surg (1994) 1.17
Assignment of the gene for F-type phosphofructokinase to human chromosome 10 by somatic cell hybridization and specific immunoprecipitation. Ann Hum Genet (1980) 1.17
Prevalence and significance of Legionella pneumophila contamination of residential hot-tap water systems. J Infect Dis (1985) 1.14
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet (1986) 1.14
Evolution of haplotypes at the DRD2 locus. Am J Hum Genet (1995) 1.14
Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Hum Mol Genet (1997) 1.13
Ocular neuroprotection by siRNA targeting caspase-2. Cell Death Dis (2011) 1.12
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet (1995) 1.12
Treatment of thyroid associated ophthalmopathy with periocular injections of triamcinolone. Br J Ophthalmol (2004) 1.10
Further evidence for the dispersion of the human fibrillar collagen genes. Am J Hum Genet (1986) 1.09
Genetic affinities of Ethiopian Jews. Isr J Med Sci (1991) 1.08
In vivo cooperation between introns during pre-mRNA processing. Genes Dev (1993) 1.06
Harvesting the human genome: the Israeli perspective. Isr Med Assoc J (2000) 1.06
Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. Hum Mol Genet (1997) 1.05
Genetic evolution of the Samaritans. J Biosoc Sci (1984) 1.04
Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites. Am J Hum Genet (1994) 1.04
Programmatic approaches to screening for active tuberculosis. Int J Tuberc Lung Dis (2013) 1.04
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet (1996) 1.04
The pro alpha 2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens. Nucleic Acids Res (1987) 1.04
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. Hum Genet (2001) 1.03
[Localization of the gene for human acid alpha-glucosidase (alpha-GLUa) on the 17q21 to 17qter by interspecific hybridization (author's transl)]. Hum Genet (1979) 1.02
Isolation and characterization of the human fibrillar collagen genes. Ann N Y Acad Sci (1985) 1.02
Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein. Genomics (2000) 1.02
Outbreak of JK diphtheroid infections associated with environmental contamination. J Clin Microbiol (1984) 1.01
Analysis of the promoter region and the N-propeptide domain of the human pro alpha 2(I) collagen gene. Nucleic Acids Res (1985) 1.01
Tuberculosis and poverty: what is being done. Int J Tuberc Lung Dis (2011) 0.98
Accumulation of mature mRNA in the nuclear fraction of mammalian cells. FEBS Lett (1999) 0.96
Maternal and paternal lineages of the Samaritan isolate: mutation rates and time to most recent common male ancestor. Ann Hum Genet (2003) 0.95
Laparoscopic adrenalectomy in children. Surg Endosc (2001) 0.93
[Assignment of the creatine kinase BB gene to chromosome 14 by man-rodent cell hybridization (author's transl)]. Ann Genet (1980) 0.93
[Localization of the gene for ribulose-5-phosphate-3-epimerase on the 2q32 to 2qter segment by interspecies cellular hybridization]. Ann Genet (1982) 0.93
Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome Iq43. Am J Hum Genet (1989) 0.93
Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness. Genomics (1995) 0.92
A study of chromosomal changes associated with amplified dihydrofolate reductase genes in rat hepatoma cells and their dedifferentiated variants. J Cell Biol (1984) 0.92
Dietary (n-3) polyunsaturated fatty acids improve adipocyte insulin action and glucose metabolism in insulin-resistant rats: relation to membrane fatty acids. J Nutr (1996) 0.92
Falling among the sensorially impaired elderly. Arch Phys Med Rehabil (1990) 0.91
Molecular analysis of HLA class II polymorphisms among different ethnic groups in Israel. Hum Immunol (1999) 0.90
Assessment of the hypothalamic-pituitary-testicular function in male patients with Wilson's disease. J Androl (1991) 0.90
The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1). Hum Genet (1986) 0.90
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Hum Mutat (1998) 0.89
DRD2 haplotypes containing the TaqI A1 allele: implications for alcoholism research. Alcohol Clin Exp Res (1996) 0.89
Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. Cell Commun Adhes (2001) 0.88
[Localization of the LDHA-GST3-ESA4 synthetic group on human chromosome 11. Analyses of the classic man-rodent hybrids and of a new type (not adhering to the wall)]. Ann Genet (1983) 0.88
Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders. Am J Phys Anthropol (1997) 0.88
[Regional localization of the genes for human IDHs, MDHs PGK, alphaGAL, G6PD by interspecific hybridization (author's transl)]. Hum Genet (1977) 0.88
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. Eur J Hum Genet (2000) 0.88
Regulation of pre-mRNA processing by src. Curr Biol (1995) 0.88
Growth and phenotypic characteristics of human nevus cells in culture. J Invest Dermatol (1988) 0.88
Assignment of the human coproporphyrinogen oxidase to chromosome 9. Hum Genet (1983) 0.87
Assignment of the ABO-N-P-AK1 linkage group to chromosome 9 in man-hamster hybrids. Birth Defects Orig Artic Ser (1976) 0.87
Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2. Genomics (1988) 0.87
cDNA cloning, expression and mapping of human laminin B2 gene to chromosome 1q31. Hum Genet (1988) 0.87