Published in BMC Genomics on November 14, 2012
Advancing genetic testing for deafness with genomic technology. J Med Genet (2013) 1.66
Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection. Nucleic Acids Res (2014) 0.81
Targeted genomic enrichment and sequencing of CyHV-3 from carp tissues confirms low nucleotide diversity and mixed genotype infections. PeerJ (2016) 0.78
Efficiency of ddRAD target enriched sequencing across spiny rock lobster species (Palinuridae: Jasus). Sci Rep (2017) 0.75
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics (2010) 53.23
Sequencing technologies - the next generation. Nat Rev Genet (2009) 40.57
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol (2009) 9.59
Target-enrichment strategies for next-generation sequencing. Nat Methods (2010) 8.78
Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med (2011) 8.20
Identification of genetic variants using bar-coded multiplexed sequencing. Nat Methods (2008) 7.50
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
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 3.85
Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biol (2009) 2.32
Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics (2011) 2.20
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples. Nat Methods (2010) 1.77
Efficient and cost effective population resequencing by pooling and in-solution hybridization. PLoS One (2011) 1.38
vipR: variant identification in pooled DNA using R. Bioinformatics (2011) 1.29
Multiplex target enrichment using DNA indexing for ultra-high throughput SNP detection. DNA Res (2010) 1.24
Assessing the enrichment performance in targeted resequencing experiments. Hum Mutat (2012) 1.20
Combining target enrichment with barcode multiplexing for high throughput SNP discovery. BMC Genomics (2010) 1.12
Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitations. J Cardiovasc Transl Res (2011) 1.04
Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia. Leukemia (2011) 1.01
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
Multiplex amplification of large sets of human exons. Nat Methods (2007) 15.11
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44
The DNA-encoded nucleosome organization of a eukaryotic genome. Nature (2008) 11.41
Targeted and genome-scale strategies reveal gene-body methylation signatures in human cells. Nat Biotechnol (2009) 11.18
Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming. Nat Biotechnol (2009) 7.59
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 3.85
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res (2008) 3.76
Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. J Am Soc Nephrol (2005) 3.57
Glomeruli of Dense Deposit Disease contain components of the alternative and terminal complement pathway. Kidney Int (2009) 3.12
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up. Kidney Int (2012) 3.05
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion. Kidney Int (2011) 2.61
Towards practical, high-capacity, low-maintenance information storage in synthesized DNA. Nature (2013) 2.56
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat (2010) 2.44
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biol (2009) 2.32
Rapid creation and quantitative monitoring of high coverage shRNA libraries. Nat Methods (2009) 1.98
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain (2013) 1.95
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement. Clin J Am Soc Nephrol (2011) 1.92
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci (2007) 1.90
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet (2013) 1.85
Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement. Kidney Int (2012) 1.81
Exonic transcription factor binding directs codon choice and affects protein evolution. Science (2013) 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
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat (2004) 1.77
Causes of alternative pathway dysregulation in dense deposit disease. Clin J Am Soc Nephrol (2012) 1.70
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat (2003) 1.67
Advancing genetic testing for deafness with genomic technology. J Med Genet (2013) 1.66
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet (2008) 1.65
Aip1 and cofilin promote rapid turnover of yeast actin patches and cables: a coordinated mechanism for severing and capping filaments. Mol Biol Cell (2006) 1.62
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet (2007) 1.59
Dense deposit disease associated with monoclonal gammopathy of undetermined significance. Am J Kidney Dis (2010) 1.57
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med (2010) 1.56
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet (2007) 1.52
New treatment options for lymphangioma in infants and children. Ann Otol Rhinol Laryngol (2002) 1.50
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med (2008) 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
Isolation and expression of recombinant antibody fragments to the biological warfare pathogen Brucella melitensis. J Immunol Methods (2003) 1.44
Membranoproliferative glomerulonephritis secondary to monoclonal gammopathy. Clin J Am Soc Nephrol (2010) 1.42
Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosis. Ann Otol Rhinol Laryngol (2005) 1.41
Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med (2009) 1.40
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. Otol Neurotol (2009) 1.40
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol (2011) 1.38
Allelic variants of complement genes associated with dense deposit disease. J Am Soc Nephrol (2011) 1.38
A DNA vaccine producing LcrV antigen in oligomers is effective in protecting mice from lethal mucosal challenge of plague. Vaccine (2004) 1.38
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
Deafness in the genomics era. Hear Res (2011) 1.37
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet (2009) 1.37
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
Identification and characterization of TriABC-OpmH, a triclosan efflux pump of Pseudomonas aeruginosa requiring two membrane fusion proteins. J Bacteriol (2007) 1.36
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet (2006) 1.36
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
Branchio-oto-renal syndrome. Am J Med Genet A (2007) 1.34
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. Nat Commun (2011) 1.33
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol (2013) 1.32
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am J Med Genet A (2004) 1.32
A claudin-9-based ion permeability barrier is essential for hearing. PLoS Genet (2009) 1.29
Inactivation of NADPH oxidase organizer 1 results in severe imbalance. Curr Biol (2006) 1.27
Comprehensive phosphoprotein analysis of linker histone H1 from Tetrahymena thermophila. Mol Cell Proteomics (2006) 1.26
Advances in molecular and cellular therapies for hearing loss. Mol Ther (2007) 1.25
Causes of facial swelling in pediatric patients: correlation of clinical and radiologic findings. Radiographics (2006) 1.25
Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet (2007) 1.24
C3 glomerulonephritis associated with monoclonal gammopathy: a case series. Am J Kidney Dis (2013) 1.24
Evidence for the biogenesis of more than 1,000 novel human microRNAs. Genome Biol (2014) 1.23
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet (2002) 1.23
Genetics: advances in genetic testing for deafness. Curr Opin Pediatr (2012) 1.23
Recent advances in the molecular genetics of epilepsy. J Med Genet (2013) 1.21
Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet (2009) 1.19
Nitrile-inducible gene expression in mycobacteria. Tuberculosis (Edinb) (2008) 1.18
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. Hum Mutat (2008) 1.17
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol (2003) 1.17
Hearing loss in Union Army veterans from 1862 to 1920. Laryngoscope (2004) 1.16
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope (2009) 1.16
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet (2009) 1.16
Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data. BMC Genet (2005) 1.14
Mutation in the COCH gene is associated with superior semicircular canal dehiscence. Am J Med Genet A (2009) 1.14
A catechol-O-methyltransferase that is essential for auditory function in mice and humans. Proc Natl Acad Sci U S A (2008) 1.13
The genetics of otosclerosis. Hear Res (2009) 1.13
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat (2011) 1.13