Research Topics
| Mark T RossSummaryAffiliation: Wellcome Trust Genome Campus Country: UK Publications
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Detail Information
Publications
The DNA sequence of the human X chromosomeMark T Ross
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Nature 434:325-37. 2005..Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence...
The sequences of the human sex chromosomesMark T Ross
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
Curr Opin Genet Dev 16:213-8. 2006..In addition, they have been useful for identifying variants associated with simple Mendelian disorders such as microphthalmia or mental retardation, and more complex disorders such as osteoporosis...
A comprehensive catalogue of somatic mutations from a human cancer genomeErin D Pleasance
Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
Nature 463:191-6. 2010..The results illustrate the power of a cancer genome sequence to reveal traces of the DNA damage, repair, mutation and selection processes that were operative years before the cancer became symptomatic...
Large-scale population study of human cell lines indicates that dosage compensation is virtually completeColette M Johnston
X Chromosome Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom
PLoS Genet 4:e9. 2008..We suggest that the potential contribution of escape from X chromosome inactivation to phenotypic differences between the sexes is more limited than previously believed...
Progressive proximal expansion of the primate X chromosome centromereMary G Schueler
Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 102:10563-8. 2005....
Construction and integration of radiation-hybrid and cytogenetic maps of dog Chromosome XHelen F Spriggs
Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk, CB8 7UU, UK
Mamm Genome 14:214-21. 2003..The data suggest strongly conserved synteny between canine and human X Chrs. The pseudoautosomal region has been further characterized, and the putative or actual locations of nine genes of clinical relevance have been suggested...
An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disordersDawn L Thiselton
Department of Molecular Genetics, Institute of Ophthalmology, University College, London, EC1V 9EL, UK
Genomics 79:560-72. 2002..3-Xp11.23 interval and provides a powerful integrated resource for functional characterization of this clonally unstable, yet gene-rich and clinically significant region of proximal Xp...
A second generation human haplotype map of over 3.1 million SNPsKelly A Frazer
The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA
Nature 449:851-61. 2007..Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations...
Genome-wide detection and characterization of positive selection in human populationsPardis C Sabeti
Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
Nature 449:913-8. 2007....
Physical and transcript map of the hereditary prostate cancer region at xq27Dietrich A Stephan
Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Genomics 79:41-50. 2002..These transcriptional units represent candidate genes for HPCX and multiple other hereditary diseases at Xq26.3-q27.3...
