Published in Am J Hum Genet on July 24, 2008
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Digenic inheritance in medical genetics. J Med Genet (2013) 1.38
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A (2011) 1.09
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Ann Hum Genet (2010) 0.92
Persistence and transmission of recessive deafness and sign language: new insights from village sign languages. Eur J Hum Genet (2013) 0.85
Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance. Hum Genet (2012) 0.83
Vestibular dysfunction in DFNB1 deafness. Am J Med Genet A (2011) 0.79
Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University. Ann Hum Genet (2009) 0.78
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. Laryngoscope (2015) 0.75
Newborn hearing screening--a silent revolution. N Engl J Med (2006) 6.75
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet (1997) 3.39
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet (1997) 3.26
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet (1995) 3.02
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet (1993) 2.48
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
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet (1995) 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
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
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med (2003) 2.00
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet (2001) 1.61
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet (1997) 1.24
Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nat Genet (2000) 1.22
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet (2003) 1.22
Relation between choice of partner and high frequency of connexin-26 deafness. Lancet (2000) 1.11
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. Am J Hum Genet (2006) 1.11
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am J Hum Genet (1999) 1.10
Relevance of connexin deafness (DFNB1) to human evolution. Am J Hum Genet (2004) 1.00
Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification. Am J Med Genet A (2007) 0.95
Genetics of hereditary disorders of magnesium homeostasis. Pediatr Nephrol (2003) 0.95
Molecular genetics applied to clinical practice: the Cx26 hearing impairment. Br J Audiol (1999) 0.89
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum Genet (2001) 0.88
An explanation of the superior performance IQs of deaf children of deaf parents. Am Ann Deaf (1987) 0.79
Newborn hearing screening--a silent revolution. N Engl J Med (2006) 6.75
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function. J Immunol (2012) 3.86
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet (2009) 2.89
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
Traditional risk factors are not major contributors to the variance in carotid intima-media thickness. Stroke (2013) 2.34
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2008) 2.33
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.26
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
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
Passive smoking increases pain perception in children undergoing venous catheterization. Acta Paediatr (2013) 2.02
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med (2003) 2.00
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet (2005) 1.81
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Hum Mol Genet (2003) 1.80
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet (2007) 1.77
Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition. Proc Natl Acad Sci U S A (2009) 1.76
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet (2011) 1.66
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci U S A (2002) 1.65
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet (2003) 1.61
NAT2 variation and idiopathic talipes equinovarus (clubfoot). Am J Med Genet A (2007) 1.57
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet (2010) 1.51
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49
Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans. Atherosclerosis (2012) 1.47
Assessment of ventricular repolarization in a large group of children with early onset deafness. Pacing Clin Electrophysiol (2004) 1.46
The clinical and audiologic features of hearing loss due to mitochondrial mutations. Otolaryngol Head Neck Surg (2013) 1.45
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum Mol Genet (2008) 1.39
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat (2008) 1.35
The prevalence of connexin 26 ( GJB2) mutations in the Chinese population. Hum Genet (2002) 1.33
CRISPLD2: a novel NSCLP candidate gene. Hum Mol Genet (2007) 1.32
Patient perspectives on breast cancer treatment plan and summary documents in community oncology care: a pilot program. Cancer (2012) 1.25
Heritability and linkage analysis for carotid intima-media thickness: the family study of stroke risk and carotid atherosclerosis. Stroke (2009) 1.24
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet (2002) 1.21
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers (2010) 1.20
MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A (2013) 1.19
Implementing a breast cancer registry and treatment plan/summary program in clinical practice: a pilot program. Cancer (2012) 1.17
Challenges in whole exome sequencing: an example from hereditary deafness. PLoS One (2012) 1.17
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol (2009) 1.17
A homozygous mutation in LTBP2 causes isolated microspherophakia. Hum Genet (2010) 1.15
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. Am J Hum Genet (2012) 1.15
DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome. Arthritis Rheum (2013) 1.13
Traditional cardiovascular risk factors explain the minority of the variability in carotid plaque. Stroke (2012) 1.13
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. Proc Natl Acad Sci U S A (2013) 1.12
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet (2010) 1.11
Recurrent and private MYO15A mutations are associated with deafness in the Turkish population. Genet Test Mol Biomarkers (2010) 1.11
Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot). Clin Orthop Relat Res (2007) 1.10
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A (2011) 1.09
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet (2012) 1.08
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet (2013) 1.07
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med (2014) 1.06
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum Genomics (2006) 1.06
Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature. Am J Med Genet A (2007) 1.04
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet A (2012) 1.03
Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI. Circ Cardiovasc Genet (2015) 1.03
A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness. Genet Med (2006) 1.02
Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque. PLoS One (2011) 1.00
The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population. J Genet (2006) 0.99
Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. Stroke (2010) 0.98
Variation in CASP10 gene is associated with idiopathic talipes equinovarus. J Pediatr Orthop (2005) 0.98
Genetic causes of nonsyndromic cleft lip with or without cleft palate. Adv Otorhinolaryngol (2011) 0.98
Fine mapping study reveals novel candidate genes for carotid intima-media thickness in Dominican Republican families. Circ Cardiovasc Genet (2012) 0.98
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Genet Test Mol Biomarkers (2010) 0.96
Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear (2006) 0.94
Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. Eur J Pediatr (2014) 0.93
SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest (2013) 0.93
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol (2014) 0.93
Next-generation sequencing in genetic hearing loss. Genet Test Mol Biomarkers (2013) 0.93
A candidate gene study revealed sex-specific association between the OLR1 gene and carotid plaque. Stroke (2011) 0.92
Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics. J Lipid Res (2011) 0.92
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Ann Hum Genet (2010) 0.92
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. Rheumatol Int (2009) 0.92
Consumer motivations for pursuing genetic testing and their preferences for the provision of genetic services for hearing loss. J Genet Couns (2008) 0.92
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. Eur J Hum Genet (2008) 0.91
Screening of OTOF mutations in Iran: a novel mutation and review. Int J Pediatr Otorhinolaryngol (2012) 0.91
Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. Am J Med Genet A (2009) 0.91
Audiological features of GJB2 (connexin 26) deafness. Ear Hear (2005) 0.91