Published in Hum Genet on August 13, 2010
Genetic advances in the study of speech and language disorders. Neuron (2010) 1.33
Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. Am J Med Genet A (2010) 1.04
Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q. Hum Genet (2011) 0.85
Genetic approaches to understanding the causes of stuttering. J Neurodev Disord (2011) 0.84
Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance. Hum Genet (2012) 0.83
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. Neurobiol Dis (2014) 0.78
A role for inherited metabolic deficits in persistent developmental stuttering. Mol Genet Metab (2012) 0.78
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. Am J Hum Genet (2015) 0.77
Characteristics of Fluency and Speech in Two Families With High Incidences of Stuttering. J Speech Lang Hear Res (2015) 0.75
Genetic contributions to stuttering: the current evidence. Mol Genet Genomic Med (2017) 0.75
easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data. Bioinformatics (2005) 3.68
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med (2010) 3.09
New complexities in the genetics of stuttering: significant sex-specific linkage signals. Am J Hum Genet (2006) 1.46
Results of a genome-wide linkage scan for stuttering. Am J Med Genet A (2004) 1.42
Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet (2005) 1.42
Genetic studies of stuttering in a founder population. J Fluency Disord (2006) 1.39
Association between dopaminergic genes (SLC6A3 and DRD2) and stuttering among Han Chinese. J Hum Genet (2009) 1.14
Mutant dynactin in motor neuron disease. Nat Genet (2003) 5.28
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science (2003) 4.48
The molecular basis of individual differences in phenylthiocarbamide and propylthiouracil bitterness perception. Curr Biol (2005) 3.41
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet (2002) 3.10
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med (2010) 3.09
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci (2006) 2.41
Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet (2009) 2.35
Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. Am J Hum Genet (2004) 2.33
Frequency distribution of hepatitis C virus genotypes in different geographical regions of Pakistan and their possible routes of transmission. BMC Infect Dis (2008) 2.19
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet (2003) 2.14
Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet (2006) 2.05
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell (2010) 1.94
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci (2005) 1.94
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis (2010) 1.75
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet (2002) 1.62
Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet (2003) 1.51
Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci. Hum Mutat (2005) 1.50
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet (2010) 1.46
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat (2007) 1.44
Results of a genome-wide linkage scan for stuttering. Am J Med Genet A (2004) 1.42
Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet (2005) 1.42
Allelic polymorphism within the TAS1R3 promoter is associated with human taste sensitivity to sucrose. Curr Biol (2009) 1.39
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat (2007) 1.37
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet (2002) 1.37
An overview of HCV molecular biology, replication and immune responses. Virol J (2011) 1.37
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet (2007) 1.36
A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci (2005) 1.34
Hepatitis C virus genotype 3a infection and hepatocellular carcinoma: Pakistan experience. World J Gastroenterol (2009) 1.31
A new locus for autosomal recessive congenital cataract identified in a Pakistani family. Mol Vis (2010) 1.30
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat (2008) 1.27
Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis (2007) 1.27
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet (2011) 1.26
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet (2008) 1.24
Repair of senescent myocardium by mesenchymal stem cells is dependent on the age of donor mice. J Cell Mol Med (2009) 1.23
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. Am J Hum Genet (2009) 1.21
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet (2010) 1.18
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet (2009) 1.15
A study of best positive predictors for sustained virologic response to interferon alpha plus ribavirin therapy in naive chronic hepatitis C patients. BMC Gastroenterol (2009) 1.14
Growth factor preconditioning increases the function of diabetes-impaired mesenchymal stem cells. Stem Cells Dev (2010) 1.14
Mesenchymal stem cells and Interleukin-6 attenuate liver fibrosis in mice. J Transl Med (2013) 1.14
Variation in the human TAS1R taste receptor genes. Chem Senses (2006) 1.14
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. Hum Mol Genet (2013) 1.12
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. J Hum Genet (2009) 1.12
Glycyrrhizin as antiviral agent against Hepatitis C Virus. J Transl Med (2011) 1.11
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. Eur J Hum Genet (2008) 1.11
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am J Hum Genet (2005) 1.10
Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology. Biochim Biophys Acta (2010) 1.09
Bone marrow derived mesenchymal stem cells from aged mice have reduced wound healing, angiogenesis, proliferation and anti-apoptosis capabilities. Cell Biol Int (2012) 1.08
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet (2011) 1.07
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. J Med Genet (2006) 1.07
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. Hum Genet (2008) 1.07
Association between common variation in genes encoding sweet taste signaling components and human sucrose perception. Chem Senses (2010) 1.06
Evolution of functionally diverse alleles associated with PTC bitter taste sensitivity in Africa. Mol Biol Evol (2011) 1.05
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet (2010) 1.05
Modeling the human PTC bitter-taste receptor interactions with bitter tastants. J Mol Model (2006) 1.05
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci (2011) 1.05
GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci (2012) 1.03
CD44 is a marker for the outer pillar cells in the early postnatal mouse inner ear. J Assoc Res Otolaryngol (2010) 1.03
Overexpression of the phytochrome B gene from Arabidopsis thaliana increases plant growth and yield of cotton (Gossypium hirsutum). J Zhejiang Univ Sci B (2011) 1.02
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Hum Genet (2011) 1.02
Common genotypes of hepatitis B virus. J Coll Physicians Surg Pak (2004) 1.01
Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest Ophthalmol Vis Sci (2005) 1.00
Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. Br J Ophthalmol (2010) 1.00
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. Hum Genet (2004) 0.99
Genetics of speech and language disorders. Annu Rev Genomics Hum Genet (2011) 0.99
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med Genet (2004) 0.98
Enhanced hepatic differentiation of mesenchymal stem cells after pretreatment with injured liver tissue. Differentiation (2010) 0.98
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Hum Genet (2007) 0.97
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. Mol Vis (2006) 0.97
Phonological processing in adults with deficits in musical pitch recognition. J Commun Disord (2009) 0.96
Mesenchymal stem cells conditioned with glucose depletion augments their ability to repair-infarcted myocardium. J Cell Mol Med (2012) 0.95
A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2010) 0.95
In-vitro model systems to study Hepatitis C Virus. Genet Vaccines Ther (2011) 0.94
Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. Mol Vis (2011) 0.94
In-vitro antiviral activity of Solanum nigrum against Hepatitis C Virus. Virol J (2011) 0.93
Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. Mol Vis (2010) 0.93
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. Mol Vis (2004) 0.92
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Genet (2005) 0.91
Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. Mol Vis (2008) 0.90
Lysosomotropic agents as HCV entry inhibitors. Virol J (2011) 0.90
Identification of micro-RNAs in cotton. Plant Physiol Biochem (2008) 0.90
Origin and differential selection of allelic variation at TAS2R16 associated with salicin bitter taste sensitivity in Africa. Mol Biol Evol (2013) 0.90
RNA interference: the story of gene silencing in plants and humans. Biotechnol Adv (2007) 0.89
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Hum Genet (2005) 0.89
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. Eur J Hum Genet (2010) 0.89
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. Br J Ophthalmol (2011) 0.89
An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. PLoS Genet (2013) 0.89
Widespread auditory deficits in tune deafness. Ear Hear (2009) 0.89
Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. Mol Vis (2008) 0.89
Allele frequency distribution of 13 X-chromosomal STR loci in Pakistani population. Int J Legal Med (2008) 0.89
Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p. Mol Vis (2010) 0.88
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3. Hum Genet (2006) 0.88
Antiviral activity of Acacia nilotica against Hepatitis C Virus in liver infected cells. Virol J (2011) 0.88