Published in J Med Genet on April 01, 2003
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genet Med (2012) 2.81
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat (2009) 2.25
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J Transl Med (2009) 1.62
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet (2003) 1.61
Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. J Biol Chem (2008) 1.43
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet (2007) 1.24
Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int J Pediatr Otorhinolaryngol (2008) 1.20
Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin. PLoS One (2011) 1.12
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PLoS One (2012) 1.11
Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models. Hear Res (2011) 1.11
The genetic bases for non-syndromic hearing loss among Chinese. J Hum Genet (2009) 1.11
Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression. PLoS One (2010) 1.09
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med (2011) 1.03
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. J Transl Med (2008) 1.02
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. PLoS One (2012) 1.01
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clin Genet (2009) 1.01
Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China. J Transl Med (2013) 1.00
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. Hum Genet (2004) 0.99
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians. J Hum Genet (2009) 0.98
Human hereditary hearing impairment: mouse models can help to solve the puzzle. Hum Genet (2008) 0.96
Detection of mutations in genes associated with hearing loss using a microarray-based approach. J Mol Diagn (2006) 0.96
Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center. PLoS One (2011) 0.96
Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study. J Transl Med (2011) 0.95
Construction of a DNA chip for screening of genetic hearing loss. Clin Exp Otorhinolaryngol (2009) 0.93
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. Rheumatol Int (2009) 0.92
Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss. Iran J Public Health (2011) 0.91
A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population. PLoS One (2013) 0.91
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? J Med Genet (2009) 0.91
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. J Hum Genet (2014) 0.90
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population. J Transl Med (2015) 0.88
Mouse models for pendrin-associated loss of cochlear and vestibular function. Cell Physiol Biochem (2013) 0.88
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. PLoS One (2013) 0.88
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem (2011) 0.87
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet (2009) 0.87
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. Am J Med Genet A (2005) 0.86
First molecular screening of deafness in the Altai Republic population. BMC Med Genet (2005) 0.85
Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic. Clin Exp Otorhinolaryngol (2012) 0.85
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. Otolaryngol Head Neck Surg (2013) 0.85
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. Genet Test Mol Biomarkers (2009) 0.84
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg (2009) 0.84
Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China. J Biomed Res (2011) 0.84
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. J Clin Endocrinol Metab (2007) 0.84
A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. Am J Med Genet A (2005) 0.83
Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss. PeerJ (2014) 0.83
Anion translocation through an Slc26 transporter mediates lumen expansion during tubulogenesis. Proc Natl Acad Sci U S A (2013) 0.83
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China. PLoS One (2015) 0.82
Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin. PLoS One (2013) 0.81
Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice. Thyroid Res (2011) 0.81
Albumin-like protein is the major protein constituent of luminal fluid in the human endolymphatic sac. PLoS One (2011) 0.81
Genetic factors that might lead to different responses in individuals exposed to perchlorate. Environ Health Perspect (2005) 0.81
SLC26A4 mutations in patients with moderate to severe hearing loss. Biochem Genet (2013) 0.81
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. J Hum Genet (2012) 0.80
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. Eur J Pediatr (2008) 0.79
Transcriptional regulation of the pendrin gene. Cell Physiol Biochem (2011) 0.78
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. J Transl Med (2012) 0.78
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations. Genet Test Mol Biomarkers (2015) 0.78
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. Clin Exp Otorhinolaryngol (2013) 0.78
The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations. Int J Mol Cell Med (2014) 0.77
Integration of human and mouse genetics reveals pendrin function in hearing and deafness. Cell Physiol Biochem (2011) 0.77
Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice. PLoS One (2013) 0.77
SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct. World J Otorhinolaryngol (2013) 0.77
Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations. Sci Rep (2015) 0.76
The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion. Nat Commun (2016) 0.76
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. BMC Med Genet (2013) 0.76
Unresolved questions regarding human hereditary deafness. Oral Dis (2016) 0.76
A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome. Clin Exp Otorhinolaryngol (2009) 0.75
Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging. Acta Otorhinolaryngol Ital (2016) 0.75
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. Thyroid (2016) 0.75
A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China. Intractable Rare Dis Res (2015) 0.75
Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China. Clin Exp Otorhinolaryngol (2015) 0.75
A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing. PLoS One (2016) 0.75
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). PLoS One (2016) 0.75
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. Laryngoscope (2015) 0.75
Genetic characteristics of the couple with non-syndromic sensorineural hearing loss and fertility guidance. Int J Clin Exp Med (2015) 0.75
Molecular architecture underlying fluid absorption by the developing inner ear. Elife (2017) 0.75
Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss. Medicine (Baltimore) (2017) 0.75
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet (1997) 4.43
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med (1998) 4.34
Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet (1998) 3.93
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
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci U S A (2001) 2.97
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet (1993) 2.48
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet (2001) 2.34
Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet (2000) 2.29
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet (2000) 2.17
Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex. Am J Physiol Renal Physiol (2001) 2.08
Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. Endocrinology (2000) 2.01
Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci U S A (1999) 1.95
A mutation in PDS causes non-syndromic recessive deafness. Nat Genet (1998) 1.79
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat (2001) 1.77
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet (1999) 1.69
Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope (2000) 1.69
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet (2001) 1.61
Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet (1998) 1.58
Radiological malformations of the ear in Pendred syndrome. Clin Radiol (1998) 1.52
Advances in hereditary deafness. Lancet (2001) 1.37
Two frequent missense mutations in Pendred syndrome. Hum Mol Genet (1998) 1.31
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet (2000) 1.30
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet (1999) 1.25
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport (1999) 1.15
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am J Hum Genet (1999) 1.14
Relation between choice of partner and high frequency of connexin-26 deafness. Lancet (2000) 1.11
Expression of Na+/I- symporter and Pendred syndrome genes in trophoblast cells. J Clin Endocrinol Metab (2000) 1.10
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet (2001) 1.08
Expression of PDS/Pds, the Pendred syndrome gene, in endometrium. J Clin Endocrinol Metab (2002) 1.05
Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China. Ann Otol Rhinol Laryngol (2001) 0.95
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat (2001) 0.95
Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. Hum Mutat (2001) 0.93
Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. J Clin Endocrinol Metab (1999) 0.92
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. Eur J Endocrinol (2001) 0.91
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. Acta Otolaryngol (2000) 0.86
Clinical and molecular analysis of three Mexican families with Pendred's syndrome. Eur J Endocrinol (2001) 0.85
Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene. J Clin Endocrinol Metab (2001) 0.84
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet (2000) 4.72
Postmenopausal hormone therapy increases risk for venous thromboembolic disease. The Heart and Estrogen/progestin Replacement Study. Ann Intern Med (2000) 4.29
Genetic analysis of the attenuation phenotype of poliovirus type 1. J Virol (1986) 3.94
Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet (1997) 3.54
Population genetic studies of retinitis pigmentosa. Am J Hum Genet (1980) 3.51
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
Updating McKusick: an educational exercise for medical students. Am J Med Genet (1986) 3.47
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet (2001) 3.42
Prevalence of type III secretion genes in clinical and environmental isolates of Pseudomonas aeruginosa. Microbiology (2001) 3.20
Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med (1997) 3.19
The steady-state counterclockwise/clockwise ratio of bacterial flagellar motors is regulated by protonmotive force. J Mol Biol (1980) 3.19
Antimicrobial actions of the NADPH phagocyte oxidase and inducible nitric oxide synthase in experimental salmonellosis. II. Effects on microbial proliferation and host survival in vivo. J Exp Med (2000) 3.12
Inversion of a behavioral response in bacterial chemotaxis: explanation at the molecular level. Proc Natl Acad Sci U S A (1978) 3.12
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science (1998) 3.00
Determinants in the 5' noncoding region of poliovirus Sabin 1 RNA that influence the attenuation phenotype. J Virol (1989) 2.98
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell (2001) 2.90
Transgenic mice susceptible to poliovirus. Proc Natl Acad Sci U S A (1991) 2.87
Isolation of Rickettsia tsutsugamushi antigenically different from Kato, Karp, and Gilliam strains from patients. Microbiol Immunol (1984) 2.70
Binding of Ku protein to DNA. Measurement of affinity for ends and demonstration of binding to nicks. J Biol Chem (1993) 2.66
Antibodies to type II collagen in relapsing polychondritis. N Engl J Med (1978) 2.65
Evaluation of bias in HIV seroprevalence estimates from national household surveys. Sex Transm Infect (2008) 2.61
Tumor angiogenesis in human lung adenocarcinoma. Cancer (1994) 2.59
Femtosecond modification of electron localization and transfer of angular momentum in nickel. Nat Mater (2007) 2.57
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet (1993) 2.48
Isotope and thermal effects in chemiosmotic coupling to the flagellar motor of Streptococcus. Cell (1983) 2.45
Detection of biofilm formation among the clinical isolates of Staphylococci: an evaluation of three different screening methods. Indian J Med Microbiol (2006) 2.43
Bruxism physiology and pathology: an overview for clinicians. J Oral Rehabil (2008) 2.42
Proton chemical potential, proton electrical potential and bacterial motility. J Mol Biol (1980) 2.41
Properties of 3-methyladenine-DNA glycosylase from Escherichia coli. Biochemistry (1978) 2.37
Genetic factors in determining bone mass. J Clin Invest (1973) 2.35
A comparative study of fine needle aspiration cytology versus non-aspiration technique in thyroid lesions. Surgeon (2005) 2.35
Colorectal foreign bodies: a systematic review. Colorectal Dis (2009) 2.30
The Y chromosome in forensic analysis and paternity testing. Int J Legal Med (1997) 2.27
Enhanced proliferative potential in culture of cells from p53-deficient mice. Oncogene (1993) 2.25
Preferential digestion of basement membrane collagen by an enzyme derived from a metastatic murine tumor. Proc Natl Acad Sci U S A (1979) 2.25
Meta-analysis and systematic review of laparoscopic versus open mesh repair for elective incisional hernia. Hernia (2015) 2.23
Adult coeliac disease and cigarette smoking. Gut (1996) 2.22
Long-term outcome of early steroid withdrawal after kidney transplantation in African American recipients monitored by surveillance biopsy. Am J Transplant (2008) 2.21
Construction of less neurovirulent polioviruses by introducing deletions into the 5' noncoding sequence of the genome. J Virol (1989) 2.19
Antigenic variation and resistance to neutralization in poliovirus type 1. Science (1985) 2.19
Interleukin 18 contributes to host resistance and gamma interferon production in mice infected with virulent Salmonella typhimurium. Infect Immun (1999) 2.14
Single cytoplasmic dynein molecule movements: characterization and comparison with kinesin. Biophys J (1995) 2.11
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
Evaluation of methods for AmpC beta-lactamase in gram negative clinical isolates from tertiary care hospitals. Indian J Med Microbiol (2005) 2.09
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet (2001) 2.08
A comparison of the palliative care needs of patients dying from chronic respiratory diseases and lung cancer. Palliat Med (2001) 2.07
Adhesive retention dressings are more comfortable than alginate dressings on split-skin-graft donor sites. Br J Plast Surg (2003) 2.03
The central Siberian origin for native American Y chromosomes. Am J Hum Genet (1999) 2.03
The incidence and magnitude of fibrinolytic activation in trauma patients. J Thromb Haemost (2013) 1.92
Chromosome Y microsatellites: population genetic and evolutionary aspects. Int J Legal Med (1997) 1.89
Chemotactic responses of Escherichia coli to small jumps of photoreleased L-aspartate. Biophys J (1999) 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
Anomalous atlantoaxial portions of vertebral and posterior inferior cerebellar arteries. Neuroradiology (1985) 1.86
Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. Am J Med Genet (1997) 1.85
Sequence and analysis of chromosome 1 of the plant Arabidopsis thaliana. Nature (2000) 1.85
Families of soft-metal-ion-transporting ATPases. J Bacteriol (1999) 1.83
A randomized phase 2a efficacy and safety trial of the topical Janus kinase inhibitor tofacitinib in the treatment of chronic plaque psoriasis. Br J Dermatol (2013) 1.83
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet (1999) 1.82
CDKN2B methylation status and isolated chromosome 7 abnormalities predict responses to treatment with 5-azacytidine. Leukemia (2007) 1.79
A mutation in PDS causes non-syndromic recessive deafness. Nat Genet (1998) 1.79
The relationship between chronic hypoxemia and activation of the tumor necrosis factor-alpha system in patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2000) 1.77
Micrococcus luteus correndonucleases. I. resolution and purification of two endonucleases specific for DNA containing pyrimidine dimers. J Biol Chem (1977) 1.76
The cytoplasmic component of the bacterial flagellar motor. Proc Natl Acad Sci U S A (1992) 1.74
Isolation and characterization of cDNA encoding the 80-kDa subunit protein of the human autoantigen Ku (p70/p80) recognized by autoantibodies from patients with scleroderma-polymyositis overlap syndrome. Proc Natl Acad Sci U S A (1990) 1.74
Purification of rabbit tumor necrosis factor. FEBS Lett (1985) 1.72
Serum surfactant proteins A and D as prognostic factors in idiopathic pulmonary fibrosis and their relationship to disease extent. Am J Respir Crit Care Med (2000) 1.72
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet (2005) 1.71
Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet (2000) 1.71
An overview on fermentation, downstream processing and properties of microbial alkaline proteases. Appl Microbiol Biotechnol (2002) 1.69
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet (1999) 1.69
Interleukin-12 is required for control of the growth of attenuated aromatic-compound-dependent salmonellae in BALB/c mice: role of gamma interferon and macrophage activation. Infect Immun (1998) 1.69
Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope (2000) 1.69
Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism. Am J Hum Genet (1999) 1.68
Predicting zygosity in Norwegian twin pairs born 1915-1960. Clin Genet (1983) 1.68
The molecular genetics of Usher syndrome. Clin Genet (2003) 1.68
Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet (1996) 1.68
Genetic models for the analysis of data from the families of identical twins. Genetics (1976) 1.67
FliN is a major structural protein of the C-ring in the Salmonella typhimurium flagellar basal body. J Mol Biol (1996) 1.67
Prospective randomized trial comparing sequential avulsion with stripping of the long saphenous vein. Br J Surg (1996) 1.66
Pollen specific expression of maize genes encoding actin depolymerizing factor-like proteins. Proc Natl Acad Sci U S A (1996) 1.66
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet (2001) 1.66