39 papers found
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
Large scale variation in DNA copy number in chicken breeds
Identification of Large Families in Early Repolarization Syndrome
Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME
Pitfalls in the use of DGV for CNV interpretation
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
aCGH.Spline--an R package for aCGH dye bias normalization
Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome
Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13
Confirmed rare copy number variants implicate novel genes in schizophrenia
Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
The Role of DNA Copy Number Variation in Schizophrenia
Origins and functional impact of copy number variation in the human genome
Copy number variation goes clinical.
Comparative genomic hybridization: microarray design and data interpretation.
Comparative genomic hybridization: DNA labeling, hybridization and detection.
Comparative genomic hybridization: DNA preparation for microarray fabrication.
Copy number variation and evolution in humans and chimpanzees
A robust statistical method for case-control association testing with copy number variation
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