Mark T Ross
Affiliation: Wellcome Trust Genome Campus
- 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...