Published in Am J Hum Genet on February 18, 2010
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics (2011) 5.45
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries. Genome Biol (2011) 5.11
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. Am J Hum Genet (2010) 4.95
Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet (2010) 3.50
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol (2011) 3.09
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
The impact of next-generation sequencing on genomics. J Genet Genomics (2011) 2.41
Molecular genetic studies of complex phenotypes. Transl Res (2011) 1.95
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet (2013) 1.68
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. PLoS One (2013) 1.51
Molecular architecture of the chick vestibular hair bundle. Nat Neurosci (2013) 1.43
Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res (2012) 1.43
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet (2010) 1.42
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet (2011) 1.40
Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39
Deafness in the genomics era. Hear Res (2011) 1.37
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform. BMC Med Genomics (2012) 1.32
Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat (2012) 1.28
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet (2010) 1.23
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. PLoS One (2013) 1.18
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet (2010) 1.18
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet (2011) 1.16
Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development. PLoS Genet (2010) 1.13
Next generation sequencing (NGS) strategies for the genetic testing of myopathies. Acta Myol (2012) 1.10
Microtubule actin crosslinking factor 1 regulates the Balbiani body and animal-vegetal polarity of the zebrafish oocyte. PLoS Genet (2010) 1.08
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res (2011) 1.08
High-throughput sequencing to decipher the genetic heterogeneity of deafness. Genome Biol (2012) 1.07
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet (2014) 1.07
Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. J Neurosci (2012) 1.05
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics (2011) 1.04
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication. Orphanet J Rare Dis (2014) 1.03
DNA sequencing: clinical applications of new DNA sequencing technologies. Circulation (2012) 1.03
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Hum Genet (2011) 1.02
Hearing loss: a common disorder caused by many rare alleles. Ann N Y Acad Sci (2010) 1.00
Proteomic analysis of the enterocyte brush border. Am J Physiol Gastrointest Liver Physiol (2011) 0.98
Actin in hair cells and hearing loss. Hear Res (2011) 0.95
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. Am J Hum Genet (2010) 0.94
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. J Mol Diagn (2012) 0.94
Next-generation sequencing in genetic hearing loss. Genet Test Mol Biomarkers (2013) 0.93
Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes. Genet Test Mol Biomarkers (2015) 0.92
FCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro. PLoS One (2013) 0.91
The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus. Mol Vis (2010) 0.87
The impact of genomics on pediatric research and medicine. Pediatrics (2012) 0.87
Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet (2014) 0.86
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. Otolaryngol Head Neck Surg (2013) 0.85
Protein phosphatase 1α interacting proteins in the human brain. OMICS (2012) 0.85
Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment. PLoS One (2013) 0.84
Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance. Hum Genet (2012) 0.83
Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis (2011) 0.83
CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI. Cytoskeleton (Hoboken) (2013) 0.83
Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. Hum Genet (2010) 0.83
Similar phenotypes caused by mutations in OTOG and OTOGL. Ear Hear (2014) 0.80
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans. Korean J Audiol (2014) 0.80
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. J Hum Genet (2012) 0.80
Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing. BMC Genomics (2011) 0.80
Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain. PLoS One (2015) 0.80
Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19. BMC Med Genet (2011) 0.79
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. Orphanet J Rare Dis (2015) 0.78
Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function. Elife (2016) 0.78
DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3. Clin Genet (2011) 0.78
Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1α) docking protein. Biol Open (2011) 0.78
The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity. BMC Genomics (2016) 0.78
Captured metagenomics: large-scale targeting of genes based on 'sequence capture' reveals functional diversity in soils. DNA Res (2015) 0.77
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss. Am J Med Genet A (2015) 0.75
Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner. J Neurosci (2017) 0.75
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. Am J Hum Genet (2017) 0.75
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss. PLoS One (2014) 0.75
Genetics of Nonsyndromic Congenital Hearing Loss. Scientifica (Cairo) (2016) 0.75
Genetic hearing loss: the journey of discovery to destination - how close are we to therapy? Mol Genet Genomic Med (2016) 0.75
The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan. Biochem Genet (2013) 0.75
Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia. Eur J Hum Genet (2014) 0.75
Harnessing Molecular Motors for Nanoscale Pulldown in Live Cells. Mol Biol Cell (2016) 0.75
Application of next generation sequencing upon the molecular genetic diagnosis of deafness. Korean J Audiol (2012) 0.75
A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells. PLoS One (2017) 0.75
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
SSAHA: a fast search method for large DNA databases. Genome Res (2001) 48.64
CpG islands in vertebrate genomes. J Mol Biol (1987) 23.16
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62
Distinguishing protein-coding and noncoding genes in the human genome. Proc Natl Acad Sci U S A (2007) 8.00
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res (1989) 5.27
The organization of actin filaments in the stereocilia of cochlear hair cells. J Cell Biol (1980) 3.64
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
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol (2005) 3.15
Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet (2009) 3.01
Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors. Cell Mol Life Sci (2009) 2.79
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet (2005) 2.38
Development and properties of stereociliary link types in hair cells of the mouse cochlea. J Comp Neurol (2005) 2.15
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet (2001) 2.06
Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet (2006) 2.05
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci (2007) 2.05
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci U S A (2003) 2.04
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet (2004) 2.04
The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci (2006) 1.93
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet (2009) 1.85
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet (2003) 1.83
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Hair cells require phosphatidylinositol 4,5-bisphosphate for mechanical transduction and adaptation. Neuron (2004) 1.74
Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci U S A (2009) 1.74
Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex. EMBO J (2000) 1.64
A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. J Neurosci (2003) 1.63
Mitochondrial deafness. Clin Genet (2007) 1.61
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat (2007) 1.37
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet (2010) 1.23
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. Am J Hum Genet (2009) 1.21
Mutation discovery in the mouse using genetically guided array capture and resequencing. Mamm Genome (2009) 1.13
Phostensin caps to the pointed end of actin filaments and modulates actin dynamics. Biochem Biophys Res Commun (2009) 1.12
Identification of phostensin, a PP1 F-actin cytoskeleton targeting subunit. Biochem Biophys Res Commun (2007) 1.10
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. Eur J Hum Genet (2010) 0.89
The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions. Cytogenet Genome Res (2005) 0.89
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol (2005) 3.15
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
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
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet (2003) 2.36
Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med (2005) 2.36
Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet (2009) 2.35
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet (2002) 2.31
Rapid renewal of auditory hair bundles. Nature (2002) 2.28
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
Genetic insights into the morphogenesis of inner ear hair cells. Nat Rev Genet (2004) 2.11
Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet (2006) 2.05
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci U S A (2003) 2.04
Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc Natl Acad Sci U S A (2002) 2.03
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
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
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol (2005) 1.82
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells. PLoS Biol (2013) 1.77
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis (2010) 1.75
Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci U S A (2009) 1.74
Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum Mol Genet (2004) 1.73
Deafness and stria vascularis defects in S1P2 receptor-null mice. J Biol Chem (2007) 1.66
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
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
Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet (2005) 1.42
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med (2003) 1.38
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