Published in Mol Genet Metab on March 15, 2010
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics (2011) 5.45
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
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med (2011) 1.42
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet (2012) 1.18
Advances in Alport syndrome diagnosis using next-generation sequencing. Eur J Hum Genet (2011) 1.17
Exome-wide DNA capture and next generation sequencing in domestic and wild species. BMC Genomics (2011) 1.13
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. J Med Genet (2013) 0.89
High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods. Haematologica (2012) 0.84
A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian population. Mol Genet Metab (2011) 0.83
Genome sequencing in microfabricated high-density picolitre reactors. Nature (2005) 150.21
Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet (2008) 68.81
An integrated genomic analysis of human glioblastoma multiforme. Science (2008) 51.36
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med (2009) 33.09
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73
Next-generation sequencing transforms today's biology. Nat Methods (2007) 11.93
Rapid whole-genome mutational profiling using next-generation sequencing technologies. Genome Res (2008) 8.01
454 sequencing put to the test using the complex genome of barley. BMC Genomics (2006) 6.12
1000 Genomes project. Nat Biotechnol (2008) 5.73
The development and impact of 454 sequencing. Nat Biotechnol (2008) 4.60
Next-generation sequencing: from basic research to diagnostics. Clin Chem (2009) 4.18
Targeted high-throughput sequencing of tagged nucleic acid samples. Nucleic Acids Res (2007) 3.56
Parallel tagged sequencing on the 454 platform. Nat Protoc (2008) 3.49
Massively parallel sequencing: the next big thing in genetic medicine. Am J Hum Genet (2009) 3.01
Enrichment of super-sized resequencing targets from the human genome. Nat Methods (2007) 2.68
High-resolution, high-throughput HLA genotyping by next-generation sequencing. Tissue Antigens (2009) 2.64
Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60
Exome sequencing makes medical genomics a reality. Nat Genet (2010) 2.47
Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J Mol Diagn (2008) 2.24
Cancer genome sequencing: a review. Hum Mol Genet (2009) 2.15
Next-generation gap. Nat Methods (2009) 2.01
Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet (2004) 1.99
Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. Bioessays (2004) 1.96
Genetics of intellectual disability. Curr Opin Genet Dev (2008) 1.75
Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing. Genomics (2009) 1.73
The genetics of deafness. Ment Retard Dev Disabil Res Rev (2003) 1.61
Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol (2006) 1.52
DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model. Clin Chem (2009) 1.51
Rapid high-throughput human leukocyte antigen typing by massively parallel pyrosequencing for high-resolution allele identification. Hum Immunol (2009) 1.50
Next-generation sequencing: applications beyond genomes. Biochem Soc Trans (2008) 1.45
Next generation sequence analysis for mitochondrial disorders. Genome Med (2009) 1.42
Genetic determinants of cardiac hypertrophy. Curr Opin Cardiol (2008) 1.35
Developmental eye disorders. Curr Opin Genet Dev (2005) 1.19
Hereditary retinal disease. Curr Opin Ophthalmol (2008) 1.14
Congenital eye malformations in 212,479 consecutive births. Ann Genet (1997) 1.08
Congenital malformations of the eye and orbit. Otolaryngol Clin North Am (2007) 1.07
Zebrafish mutants as models for congenital ocular disorders in humans. Mol Reprod Dev (2008) 1.00
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Hum Mutat (1999) 0.94
Identification of two single nucleotide polymorphisms in exon 8 of PAX2. Mol Genet Metab (1999) 0.78
New IL-17 family members promote Th1 or Th2 responses in the lung: in vivo function of the novel cytokine IL-25. J Immunol (2002) 4.48
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol (2011) 2.66
A primer for morpholino use in zebrafish. Zebrafish (2009) 2.60
Repetitive antigen stimulation induces stepwise transcriptome diversification but preserves a core signature of memory CD8(+) T cell differentiation. Immunity (2010) 2.38
WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn (2010) 1.91
Murine CXCR1 is a functional receptor for GCP-2/CXCL6 and interleukin-8/CXCL8. J Biol Chem (2006) 1.79
Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. PLoS One (2006) 1.60
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. J AAPOS (2013) 1.52
The unique association of iris heterochromia with Hermansky-Pudlak syndrome. J AAPOS (2013) 1.39
Axenfeld-Rieger syndrome: new perspectives. Br J Ophthalmol (2011) 1.35
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet (2007) 1.34
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat (2012) 1.15
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Mol Vis (2008) 1.06
Detection of cytomegalovirus DNA in dried blood spots of Minnesota infants who do not pass newborn hearing screening. Pediatr Infect Dis J (2009) 1.03
The lineage-specific gene ponzr1 is essential for zebrafish pronephric and pharyngeal arch development. Development (2012) 1.02
Development and Notch signaling requirements of the zebrafish choroid plexus. PLoS One (2008) 1.00
TLR9 polymorphisms are associated with altered IFN-gamma levels in children with cerebral malaria. Am J Trop Med Hyg (2010) 1.00
The Enamovirus P0 protein is a silencing suppressor which inhibits local and systemic RNA silencing through AGO1 degradation. Virology (2012) 0.99
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am J Med Genet A (2008) 0.97
Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genet Med (2003) 0.95
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med (2011) 0.94
Infant hearing loss and connexin testing in a diverse population. Genet Med (2008) 0.91
Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening. Genet Med (2011) 0.90
Ethnic differences in parental perceptions of genetic testing for deaf infants. J Genet Couns (2007) 0.89
Molecular cloning of doublesex genes of four cladocera (water flea) species. BMC Genomics (2013) 0.88
Cell-internalization SELEX: method for identifying cell-internalizing RNA aptamers for delivering siRNAs to target cells. Methods Mol Biol (2015) 0.87
Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet (2002) 0.86
A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants. Am J Med Genet A (2009) 0.85
A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med (2010) 0.84
A systematic literature review of psychological characteristics as determinants of outcome for spinal cord stimulation therapy. Pain (2010) 0.81
The Chalder Fatigue Scale (CFQ 11). Occup Med (Lond) (2015) 0.81
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. J Child Neurol (2008) 0.79
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. Eur J Hum Genet (2011) 0.76
Effect of granulocyte colony-stimulating factor combination therapy on efficacy of posaconazole (SCH56592) in an inhalation model of murine pulmonary aspergillosis. Antimicrob Agents Chemother (2004) 0.75
Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. Am J Med Genet A (2012) 0.75
Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification. Genet Test Mol Biomarkers (2013) 0.75
Prelingual siblings of children with GJB2 hearing loss: issues to consider. Arch Otolaryngol Head Neck Surg (2005) 0.75
Safety and efficacy of thrombin-JMI: a multidisciplinary expert group consensus. Clin Appl Thromb Hemost (2010) 0.75
Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21. Clin Dysmorphol (2005) 0.75
Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon. Otol Neurotol (2017) 0.75
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet (2017) 0.75