Published in N Engl J Med on February 10, 2010
Epidemiology of stuttering: 21st century advances. J Fluency Disord (2012) 2.35
Genetic advances in the study of speech and language disorders. Neuron (2010) 1.33
A study of the reproducibility and etiology of diffusion anisotropy differences in developmental stuttering: a potential role for impaired myelination. Neuroimage (2010) 1.17
Evidence of left inferior frontal-premotor structural and functional connectivity deficits in adults who stutter. Cereb Cortex (2011) 1.15
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
Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33. Hum Genet (2010) 1.04
Speech-induced suppression of evoked auditory fields in children who stutter. Neuroimage (2010) 1.01
Weak responses to auditory feedback perturbation during articulation in persons who stutter: evidence for abnormal auditory-motor transformation. PLoS One (2012) 1.01
Neurogenomics of speech and language disorders: the road ahead. Genome Biol (2013) 0.92
Structural basis for recognition of phosphodiester-containing lysosomal enzymes by the cation-independent mannose 6-phosphate receptor. Proc Natl Acad Sci U S A (2010) 0.92
Linking neurogenetics and individual differences in language learning: the dopamine hypothesis. Cortex (2012) 0.92
Reading and language disorders: the importance of both quantity and quality. Genes (Basel) (2014) 0.86
Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering. J Biol Chem (2011) 0.85
Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation. J Hum Genet (2010) 0.85
Genetic bases of stuttering: the state of the art, 2011. Folia Phoniatr Logop (2012) 0.85
Genetic susceptibility to stuttering. N Engl J Med (2010) 0.84
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
Genetic susceptibility to persistent stuttering. N Engl J Med (2010) 0.82
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. Eur J Hum Genet (2015) 0.81
Behavioral effects arising from the neural substrates for atypical planning and execution of word production in stuttering. Exp Neurol (2010) 0.81
A Mutation Associated with Stuttering Alters Mouse Pup Ultrasonic Vocalizations. Curr Biol (2016) 0.81
Genetic insights into the functional elements of language. Hum Genet (2013) 0.80
Stuttering, induced fluency, and natural fluency: a hierarchical series of activation likelihood estimation meta-analyses. Brain Lang (2014) 0.80
Animal Models of Speech and Vocal Communication Deficits Associated With Psychiatric Disorders. Biol Psychiatry (2015) 0.79
A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. Neurobiol Dis (2014) 0.78
Recent Advances in the Genetics of Vocal Learning. Comp Cogn Behav Rev (2015) 0.78
The Impact of Social-Cognitive Stress on Speech Variability, Determinism, and Stability in Adults Who Do and Do Not Stutter. J Speech Lang Hear Res (2016) 0.78
Structure and function of the DUF2233 domain in bacteria and in the human mannose 6-phosphate uncovering enzyme. J Biol Chem (2013) 0.78
A role for inherited metabolic deficits in persistent developmental stuttering. Mol Genet Metab (2012) 0.78
Evaluation of the association between polymorphisms at the DRD2 locus and stuttering. J Hum Genet (2011) 0.77
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering. Am J Hum Genet (2015) 0.77
Altered Modulation of Silent Period in Tongue Motor Cortex of Persistent Developmental Stuttering in Relation to Stuttering Severity. PLoS One (2016) 0.75
Genetic contributions to stuttering: the current evidence. Mol Genet Genomic Med (2017) 0.75
Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology. Biochim Biophys Acta (2016) 0.75
Knockout of Lysosomal Enzyme-Targeting Gene Causes Abnormalities in Mouse Pup Isolation Calls. Front Behav Neurosci (2017) 0.75
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. BMC Genet (2015) 0.75
Direct versus Indirect Treatment for Preschool Children who Stutter: The RESTART Randomized Trial. PLoS One (2015) 0.75
Stuttering: Genetic updates and a case report. Adv Biomed Res (2012) 0.75
Characteristics of Fluency and Speech in Two Families With High Incidences of Stuttering. J Speech Lang Hear Res (2015) 0.75
Nature and nurture in stuttering: a systematic review on the case of Moses. Neurol Sci (2012) 0.75
Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res (1988) 32.89
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet (1998) 21.52
Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N-acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest (1981) 3.34
Early childhood stuttering I: persistency and recovery rates. J Speech Lang Hear Res (1999) 2.46
A stuttering severity instrument for children and adults. J Speech Hear Disord (1972) 1.85
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) J Clin Invest (2000) 1.72
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene. Am J Hum Genet (2006) 1.72
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure. J Biol Chem (1996) 1.62
A study of the genetic and environmental etiology of stuttering in a selected twin sample. Behav Genet (2000) 1.53
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
Concordance for stuttering in monozygotic and dizygotic twin pairs. J Speech Hear Res (1981) 1.41
Genetic studies of stuttering in a founder population. J Fluency Disord (2006) 1.39
Epidemiological and offspring analyses of developmental speech disorders using data from the Colorado Adoption Project. J Speech Lang Hear Res (1997) 1.31
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet (2009) 1.28
Genetic factors in stuttering confirmed. Arch Gen Psychiatry (1991) 1.25
Genetic etiology in cases of recovered and persistent stuttering in an unselected, longitudinal sample of young twins. Am J Speech Lang Pathol (2007) 1.25
Genetic and environmental influences on stuttering and tics in Japanese twin children. Twin Res Hum Genet (2005) 1.17
Evidence for a major gene influence on persistent developmental stuttering. Hum Biol (2004) 1.15
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. J Med Genet (2004) 1.13
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab (2006) 1.11
Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review. Ann N Y Acad Sci (2009) 1.01
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am J Med Genet A (2005) 0.95
Stuttering in families of adopted stutterers. J Speech Hear Disord (1961) 0.91
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics. PLoS Biol (2003) 13.32
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
Focused evolution of HIV-1 neutralizing antibodies revealed by structures and deep sequencing. Science (2011) 7.92
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
The DNA sequence of the human X chromosome. Nature (2005) 6.97
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans. Nat Genet (2007) 6.63
The mosaic structure of variation in the laboratory mouse genome. Nature (2002) 6.54
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Co-evolution of a broadly neutralizing HIV-1 antibody and founder virus. Nature (2013) 5.35
Mutant dynactin in motor neuron disease. Nat Genet (2003) 5.28
Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70
Initial sequence and comparative analysis of the cat genome. Genome Res (2007) 4.67
Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide. Science (2003) 4.48
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet (2012) 4.45
Completing the map of human genetic variation. Nature (2007) 4.38
An intermediate grade of finished genomic sequence suitable for comparative analyses. Genome Res (2004) 4.38
An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing. Proc Natl Acad Sci U S A (2005) 4.38
Insights into hominid evolution from the gorilla genome sequence. Nature (2012) 4.12
The genome of the ctenophore Mnemiopsis leidyi and its implications for cell type evolution. Science (2013) 4.07
Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet (2010) 3.50
The molecular basis of individual differences in phenylthiocarbamide and propylthiouracil bitterness perception. Curr Biol (2005) 3.41
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites. Proc Natl Acad Sci U S A (2004) 3.41
Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet (2002) 3.24
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med (2011) 3.14
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet (2002) 3.10
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet (2010) 3.09
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Great ape genetic diversity and population history. Nature (2013) 2.95
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
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. Nat Genet (2012) 2.71
Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression. Cell Stem Cell (2012) 2.61
The bonobo genome compared with the chimpanzee and human genomes. Nature (2012) 2.49
VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer. Bioinformatics (2011) 2.47
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
Accelerated genetic drift on chromosome X during the human dispersal out of Africa. Nat Genet (2008) 2.22
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
Multidonor analysis reveals structural elements, genetic determinants, and maturation pathway for HIV-1 neutralization by VRC01-class antibodies. Immunity (2013) 2.17
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
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med (2016) 2.09
Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet (2006) 2.05
Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr (2004) 2.02
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
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
Revisiting the mouse mitochondrial DNA sequence. Nucleic Acids Res (2003) 1.70
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet (2002) 1.62
The cnidarian-bilaterian ancestor possessed at least 56 homeoboxes: evidence from the starlet sea anemone, Nematostella vectensis. Genome Biol (2006) 1.60
StellaBase: the Nematostella vectensis Genomics Database. Nucleic Acids Res (2006) 1.59
Mining the antibodyome for HIV-1-neutralizing antibodies with next-generation sequencing and phylogenetic pairing of heavy/light chains. Proc Natl Acad Sci U S A (2013) 1.51
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
Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation. Blood (2011) 1.50
Incidental medical information in whole-exome sequencing. Pediatrics (2012) 1.48
Microsatellites are molecular clocks that support accurate inferences about history. Mol Biol Evol (2009) 1.48
The homeodomain complement of the ctenophore Mnemiopsis leidyi suggests that Ctenophora and Porifera diverged prior to the ParaHoxozoa. Evodevo (2010) 1.48
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet (2010) 1.46
Genomic features defining exonic variants that modulate splicing. Genome Biol (2010) 1.46
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat (2007) 1.44
Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet (2013) 1.43
Functional constraint and small insertions and deletions in the ENCODE regions of the human genome. Genome Biol (2007) 1.43
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
Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains. Nat Genet (2005) 1.42
Allelic polymorphism within the TAS1R3 promoter is associated with human taste sensitivity to sucrose. Curr Biol (2009) 1.39
An overview of HCV molecular biology, replication and immune responses. Virol J (2011) 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
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat (2007) 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
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat (2003) 1.36
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
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet (2008) 1.31
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A (2004) 1.30
A new locus for autosomal recessive congenital cataract identified in a Pakistani family. Mol Vis (2010) 1.30
Lysosomal storage disorders in the newborn. Pediatrics (2009) 1.29
Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat (2012) 1.28
Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology (2013) 1.28
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
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol Genet Metab (2004) 1.26
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet (2011) 1.26
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat (2012) 1.25
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet (2008) 1.24