Published in Am J Hum Genet on June 17, 2010
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76
The next-generation sequencing revolution and its impact on genomics. Cell (2013) 3.35
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol (2011) 3.09
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res (2011) 2.89
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med (2010) 2.70
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Revisiting Mendelian disorders through exome sequencing. Hum Genet (2011) 2.57
Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet (2011) 2.52
The impact of next-generation sequencing on genomics. J Genet Genomics (2011) 2.41
Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One (2012) 2.33
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet (2011) 2.23
Whole-exome-sequencing-based discovery of human FADD deficiency. Am J Hum Genet (2010) 2.17
Comprehensive comparison of three commercial human whole-exome capture platforms. Genome Biol (2011) 2.15
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Deep sequencing of patient genomes for disease diagnosis: when will it become routine? Sci Transl Med (2011) 1.91
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol (2013) 1.90
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet (2011) 1.84
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83
Mutation discovery in mice by whole exome sequencing. Genome Biol (2011) 1.69
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases. Hum Genet (2013) 1.68
Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithms. BMC Genomics (2011) 1.64
Exome sequencing: a transformative technology. Lancet Neurol (2011) 1.57
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet (2015) 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
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet (2011) 1.51
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet (2013) 1.50
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. Orphanet J Rare Dis (2012) 1.49
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). Proc Natl Acad Sci U S A (2011) 1.48
Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res (2012) 1.43
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
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol (2011) 1.38
Deafness in the genomics era. Hear Res (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
Regions of homozygosity and their impact on complex diseases and traits. Hum Genet (2010) 1.30
Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat (2012) 1.28
Identification of genetic association of multiple rare variants using collapsing methods. Genet Epidemiol (2011) 1.26
Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. Proc Natl Acad Sci U S A (2014) 1.24
Exome-based mapping and variant prioritization for inherited Mendelian disorders. Am J Hum Genet (2014) 1.22
Mitotic spindle (DIS)orientation and DISease: cause or consequence? J Cell Biol (2012) 1.21
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. PLoS One (2013) 1.18
Challenges in whole exome sequencing: an example from hereditary deafness. PLoS One (2012) 1.17
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
Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing. PLoS One (2012) 1.10
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet (2012) 1.08
High-throughput sequencing to decipher the genetic heterogeneity of deafness. Genome Biol (2012) 1.07
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families. BMC Med Genet (2013) 1.07
Next-generation human genetics. Genome Biol (2011) 1.07
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics (2011) 1.04
Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family. PLoS One (2013) 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 in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet (2013) 1.03
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Hum Genet (2011) 1.02
Discovery of variants unmasked by hemizygous deletions. Eur J Hum Genet (2012) 1.02
Whole-genome resequencing of Hanwoo (Korean cattle) and insight into regions of homozygosity. BMC Genomics (2013) 1.02
Hearing loss: a common disorder caused by many rare alleles. Ann N Y Acad Sci (2010) 1.00
Another locus, a new method. Brain (2010) 0.99
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol (2011) 0.99
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology (2014) 0.97
Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics (2011) 0.95
Activators of G protein signaling exhibit broad functionality and define a distinct core signaling triad. Mol Pharmacol (2013) 0.93
Next-generation sequencing in genetic hearing loss. Genet Test Mol Biomarkers (2013) 0.93
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). PLoS One (2013) 0.92
Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN). Proc Natl Acad Sci U S A (2011) 0.92
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
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss. PLoS One (2013) 0.90
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. Clin Genet (2011) 0.90
Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease. J Med Genet (2011) 0.89
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing. Eur J Hum Genet (2013) 0.89
Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family. Psychiatr Genet (2012) 0.88
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. Blood (2011) 0.88
Regulation of the G-protein regulatory-Gαi signaling complex by nonreceptor guanine nucleotide exchange factors. J Biol Chem (2012) 0.88
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. Eur J Hum Genet (2014) 0.86
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One (2012) 0.85
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing. J Transl Med (2013) 0.85
Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment. PLoS One (2013) 0.84
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient. Front Endocrinol (Lausanne) (2011) 0.84
Lis1 mediates planar polarity of auditory hair cells through regulation of microtubule organization. Development (2013) 0.83
Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis (2011) 0.83
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC Genomics (2014) 0.81
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans. Korean J Audiol (2014) 0.80
Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia. Fam Cancer (2013) 0.80
Genetics of auditory mechano-electrical transduction. Pflugers Arch (2014) 0.79
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. BMC Genomics (2015) 0.78
Specific expression of Kcna10, Pxn and Odf2 in the organ of Corti. Gene Expr Patterns (2012) 0.78
Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives. Biomed Res Int (2015) 0.78
The number of candidate variants in exome sequencing for Mendelian disease under no genetic heterogeneity. Comput Math Methods Med (2013) 0.77
Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria. Proc Natl Acad Sci U S A (2011) 0.77
GPSM2 mutations in Chudley-McCullough syndrome. Am J Med Genet A (2012) 0.77
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family. PLoS One (2015) 0.77
The GPSM2/LGN GoLoco motifs are essential for hearing. Mamm Genome (2015) 0.76
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. Eur J Hum Genet (2016) 0.76
Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res (2008) 157.44
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
Neuroepithelial progenitors undergo LGN-dependent planar divisions to maintain self-renewability during mammalian neurogenesis. Nat Cell Biol (2007) 3.85
Dare to be different: asymmetric cell division in Drosophila, C. elegans and vertebrates. Curr Biol (2004) 3.49
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
A mammalian Partner of inscuteable binds NuMA and regulates mitotic spindle organization. Nat Cell Biol (2001) 2.73
Translation of polarity cues into asymmetric spindle positioning in Caenorhabditis elegans embryos. Science (2003) 2.46
Cell polarity in development and cancer. Nat Cell Biol (2007) 2.45
Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biol (2009) 2.32
Identification of an Aurora-A/PinsLINKER/Dlg spindle orientation pathway using induced cell polarity in S2 cells. Cell (2009) 2.30
Hearing loss: mechanisms revealed by genetics and cell biology. Annu Rev Genet (2009) 2.30
Wnt signaling mediates reorientation of outer hair cell stereociliary bundles in the mammalian cochlea. Development (2003) 2.18
Linking genes underlying deafness to hair-bundle development and function. Nat Neurosci (2009) 1.95
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67
Expression analysis and subcellular distribution of the two G-protein regulators AGS3 and LGN indicate distinct functionality. Localization of LGN to the midbody during cytokinesis. J Biol Chem (2002) 1.60
Development of form and function in the mammalian cochlea. Curr Opin Neurobiol (2009) 1.36
A point mutation to Galphai selectively blocks GoLoco motif binding: direct evidence for Galpha.GoLoco complexes in mitotic spindle dynamics. J Biol Chem (2008) 1.29
Identification of a truncated form of the G-protein regulator AGS3 in heart that lacks the tetratricopeptide repeat domains. J Biol Chem (2001) 1.29
Hair cell development: commitment through differentiation. Brain Res (2006) 1.17
Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1. Eur J Hum Genet (2003) 1.10
Pins homolog LGN regulates meiotic spindle organization in mouse oocytes. Cell Res (2009) 1.08
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Genetic heterogeneity in human disease. Cell (2010) 10.67
Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 7.00
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 5.60
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA (2006) 5.51
Breast-cancer risk in families with mutations in PALB2. N Engl J Med (2014) 4.97
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 3.99
The lta4h locus modulates susceptibility to mycobacterial infection in zebrafish and humans. Cell (2010) 3.64
Host genotype-specific therapies can optimize the inflammatory response to mycobacterial infections. Cell (2012) 3.54
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature (2011) 3.51
Ten genes for inherited breast cancer. Cancer Cell (2007) 3.45
Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell (2013) 3.26
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res (2013) 3.25
Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05
Medicine. The future of psychiatric research: genomes and neural circuits. Science (2010) 2.79
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
DBC2, a candidate for a tumor suppressor gene involved in breast cancer. Proc Natl Acad Sci U S A (2002) 2.58
Promoting Arab and Israeli cooperation: peacebuilding through health initiatives. Lancet (2005) 2.48
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet (2002) 2.31
Hearing loss: mechanisms revealed by genetics and cell biology. Annu Rev Genet (2009) 2.30
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res (2011) 2.27
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci U S A (2002) 2.17
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A (2011) 2.11
Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. Nat Genet (2002) 2.00
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99
BRCA1 transcriptionally regulates genes involved in breast tumorigenesis. Proc Natl Acad Sci U S A (2002) 1.89
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
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
Tumor-specific p53 sequences in blood and peritoneal fluid of women with epithelial ovarian cancer. Am J Obstet Gynecol (2005) 1.72
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. Eur J Hum Genet (2009) 1.67
MicroRNAs are essential for development and function of inner ear hair cells in vertebrates. Proc Natl Acad Sci U S A (2009) 1.67
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
Mouse models to study inner ear development and hereditary hearing loss. Int J Dev Biol (2007) 1.65
Genomic analysis of mental illness: a changing landscape. JAMA (2010) 1.56
Hearing impairment: a panoply of genes and functions. Neuron (2010) 1.55
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
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet (2013) 1.50
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet (2011) 1.48
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet (2003) 1.43
Functional characterization of a novel BRCA1-null ovarian cancer cell line in response to ionizing radiation. Mol Cancer Res (2007) 1.40
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med (2003) 1.38
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet (2002) 1.36
Maternal famine, de novo mutations, and schizophrenia. JAMA (2006) 1.35
CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development. PLoS Genet (2009) 1.34
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet (2010) 1.31
SPIKE: a database of highly curated human signaling pathways. Nucleic Acids Res (2010) 1.23
The LINC complex is essential for hearing. J Clin Invest (2013) 1.22
Hereditary hearing loss: from human mutation to mechanism. Hear Res (2011) 1.22
Myosin VI is required for structural integrity of the apical surface of sensory hair cells in zebrafish. Dev Biol (2004) 1.21