D. Pinkel

Publications362
h-index87
Citations42,132
Highly Influential Citations1,628
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Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors.
Comparative genomic hybridization produces a map of DNA sequence copy number as a function of chromosomal location throughout the entire genome. Differentially labeled test DNA and normal reference… Expand
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A collection of breast cancer cell lines for the study of functionally distinct cancer subtypes.
Recent studies suggest that thousands of genes may contribute to breast cancer pathophysiologies when deregulated by genomic or epigenomic events. Here, we describe a model "system" to appraise the… Expand
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Genomic and transcriptional aberrations linked to breast cancer pathophysiologies.
This study explores the roles of genome copy number abnormalities (CNAs) in breast cancer pathophysiology by identifying associations between recurrent CNAs, gene expression, and clinical outcome in… Expand
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Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.
This report describes the use of fluorescence in situ hybridization for chromosome classification and detection of chromosome aberrations. Biotin-labeled DNA was hybridized to target chromosomes and… Expand
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High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
Gene dosage variations occur in many diseases. In cancer, deletions and copy number increases contribute to alterations in the expression of tumour-suppressor genes and oncogenes, respectively.… Expand
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Assembly of microarrays for genome-wide measurement of DNA copy number
We have assembled arrays of approximately 2,400 BAC clones for measurement of DNA copy number across the human genome. The arrays provide precise measurement (s.d. of log2 ratios=0.05–0.10) in cell… Expand
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Fine-scale structural variation of the human genome
Inversions, deletions and insertions are important mediators of disease and disease susceptibility. We systematically compared the human genome reference sequence with a second genome (represented by… Expand
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Somatic activation of KIT in distinct subtypes of melanoma.
PURPOSE Melanomas on mucosal membranes, acral skin (soles, palms, and nail bed), and skin with chronic sun-induced damage have infrequent mutations in BRAF and NRAS, genes within the… Expand
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Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors
Comparative genomic hybridization (CGH) is a powerful new method for molecular cytogenetic analysis of cancer. In a single hybridization, CGH provides an overview of DNA sequence copy number changes… Expand
  • 1,040
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Segmental duplications and copy-number variation in the human genome.
The human genome contains numerous blocks of highly homologous duplicated sequence. This higher-order architecture provides a substrate for recombination and recurrent chromosomal rearrangement… Expand
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