The 2009 European Society of Human Genetics Meeting: novel technologies driving change (2009)
Abstract A report on the meeting of the European Society of Human Genetics, Vienna, Austria, 23-26 May 2009.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes (2008)
Sharp, Andrew J, Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, ...
Background: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of...
Optimal design of oligonucleotide microarrays for measurement of DNA copy-number (2007)
Sharp, Andrew J., Itsara, Andy, Cheng, Ze, Alkan, Can, Schwartz, Stuart, Eichler, Evan E.
Copy-number variants (CNVs) occur frequently within the human genome, and may be associated with many human phenotypes. If disease association studies of CNVs are to be performed routinely, it is...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7–3.9 Mb in size). High-resolution analysis showed that in three patients both...
Mefford, Heather C., Clauin, Séverine, Sharp, Andrew J., Moller, Rikke S., Ullmann, Reinhard, Kapur, Raj, ...
Most studies of genomic disorders have focused on patients with cognitive disability and/or peripheral nervous system defects. In an effort to broaden the phenotypic spectrum of this disease model,...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J, Selzer, Rebecca R, Veltman, Joris A, Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High resolution analysis showed that in three patients both...
High-throughput genotyping of intermediate-size structural variation (2006)
Newman, Tera L., Rieder, Mark J., Morrison, V. Anne, Sharp, Andrew J., Smith, Joshua D., Sprague, L. James, ...
The contribution of large-scale and intermediate-size structural variation (ISV) to human genetic disease and disease susceptibility is only beginning to be understood. The development of...
High-throughput genotyping of intermediate-size structural variation (2006)
Newman, Tera L., Rieder, Mark J., Morrison, V. Anne, Sharp, Andrew J., Smith, Joshua D., Sprague, L. James, ...
The contribution of large-scale and intermediate-size structural variation to human genetic disease and disease susceptibility is only beginning to be understood. The development of high-throughput...
Segmental duplications and copy-number variation in the human genome. (2005)
Sharp, Andrew J., Locke, Devin P., McGrath, Sean D., Cheng, Ze, Bailey, Jeffrey A., Vallente, Rhea U., ...
The human genome contains numerous blocks of highly homologous duplicated sequence. This higher-order architecture provides a substrate for recombination and recurrent chromosomal rearrangement...
Sharp, Andrew J., Spotswood, Hugh T., Robinson, David O., Turner, Bryan M., Jacobs, Patricia A.
We have performed detailed studies of the spreading of X inactivation in five unbalanced human X;autosome translocations. Using allele-specific RT–PCR we observed long-range silencing of autosomal...
Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors (2001)
Thomas, N. Simon, Ennis, Sarah, Sharp, Andrew J., Durkie, Miranda, Hassold, Terry J., Collins, Andrew R., ...
Human trisomy is attributable to many different mechanisms and the relative importance of each mechanism is highly chromosome specific. The association between altered recombination and maternal...
Segmental Duplications and Copy-Number Variation in the Human Genome
Sharp, Andrew J., Locke, Devin P., McGrath, Sean D., Cheng, Ze, Bailey, Jeffrey A., Vallente, Rhea U., ...
The human genome contains numerous blocks of highly homologous duplicated sequence. This higher-order architecture provides a substrate for recombination and recurrent chromosomal rearrangement...
Locke, Devin P., Sharp, Andrew J., McCarroll, Steven A., McGrath, Sean D., Newman, Tera L., Cheng, Ze, ...
Studies of copy-number variation and linkage disequilibrium (LD) have typically excluded complex regions of the genome that are rich in duplications and prone to rearrangement. In an attempt to...
The 2009 European Society of Human Genetics Meeting: novel technologies driving change
A report on the meeting of the European Society of Human Genetics, Vienna, Austria, 23-26 May 2009.
Detection of Genomic Variation by Selection of a 9 Mb DNA Region and High Throughput Sequencing
Nikolaev, Sergey I., Iseli, Christian, Sharp, Andrew J., Robyr, Daniel, Rougemont, Jacques, Gehrig, Corinne, ...
Detection of the rare polymorphisms and causative mutations of genetic diseases in a targeted genomic area has become a major goal in order to understand genomic and phenotypic variability. We have...