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Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.
Dispersed repetitive DNA sequences have been described recently in eubacteria. To assess the distribution and evolutionary conservation of two distinct prokaryotic repetitive elements, consensusExpand
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Mechanisms of change in gene copy number
Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a major source of variation between individual humans and are an underlying factor in human evolution and in manyExpand
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The complete genome of an individual by massively parallel DNA sequencing
The association of genetic variation with disease and drug response, and improvements in nucleic acid technologies, have given great optimism for the impact of ‘genomic medicine’. However, theExpand
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A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
Chromosome structural changes with nonrecurrent endpoints associated with genomic disorders offer windows into the mechanism of origin of copy number variation (CNV). A recent report of nonrecurrentExpand
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A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders
The prevailing mechanism for recurrent and some nonrecurrent rearrangements causing genomic disorders is nonallelic homologous recombination (NAHR) between region-specific low-copy repeats (LCRs).Expand
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Mechanisms for human genomic rearrangements
Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such changesExpand
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Copy number variation in human health, disease, and evolution.
Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified with various genome analysis platforms, including array comparative genomic hybridizationExpand
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Structural variation in the human genome and its role in disease.
During the last quarter of the twentieth century, our knowledge about human genetic variation was limited mainly to the heterochromatin polymorphisms, large enough to be visible in the lightExpand
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A
Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completelyExpand
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