• Publications
  • Influence
Next-generation sequencing: from basic research to diagnostics.
BACKGROUND For the past 30 years, the Sanger method has been the dominant approach and gold standard for DNA sequencing. The commercial launch of the first massively parallel pyrosequencing platformExpand
  • 701
  • 28
  • PDF
Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes.
BACKGROUND DNA melting analysis for genotyping and mutation scanning of PCR products by use of high-resolution instruments with special "saturation" dyes has recently been reported. The comparativeExpand
  • 274
  • 12
  • PDF
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by antibody deficiency, poor humoral response to antigens, and recurrent infections. To investigate the molecularExpand
  • 155
  • 9
Expanded instrument comparison of amplicon DNA melting analysis for mutation scanning and genotyping.
BACKGROUND Additional instruments have become available since instruments for DNA melting analysis of PCR products for genotyping and mutation scanning were compared. We assessed the performance ofExpand
  • 160
  • 8
  • PDF
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Phevor integrates phenotype, gene function, and disease information with personal genomic data for improved power to identify disease-causing alleles. Phevor works by combining knowledge resident inExpand
  • 135
  • 8
  • PDF
A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload
Three related males presented with a newly recognized x‐linked syndrome associated with neurodegeneration, cutaneous abnormalities, and systemic iron overload. Linkage studies demonstrated that theyExpand
  • 53
  • 5
Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on
TLDR
The current report presents principles that underlie NGS including sequencing library preparation, sequencing chemistries, and an introduction to NGS data analysis. Expand
  • 115
  • 2
Quadruplex genotyping of F5, F2, and MTHFR variants in a single closed tube by high-resolution amplicon melting.
BACKGROUND Multiplexed amplicon melting is a closed-tube method for genotyping that does not require probes, real-time analysis, asymmetric PCR, or allele-specific PCR; however, correctExpand
  • 56
  • 2
  • PDF
Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.
Next-generation sequencing (NGS) is widely used in biomedical research, but its adoption has been limited in molecular diagnostics. One application of NGS is the targeted resequencing of genes whoseExpand
  • 40
  • 2
Mycobacterium chelonae-abscessus Complex Associated with Sinopulmonary Disease, Northeastern USA
Members of the Mycobacterium chelonae-abscessus complex represent Mycobacterium species that cause invasive infections in immunocompetent and immunocompromised hosts. We report the detection of a newExpand
  • 38
  • 2
  • PDF