Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome
Open Access
- 9 July 2010
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 87 (1), 129-138
- https://doi.org/10.1016/j.ajhg.2010.06.002
Abstract
No abstract availableThis publication has 41 references indexed in Scilit:
- Genetic Susceptibility to Distinct Bladder Cancer SubphenotypesEuropean Urology, 2010
- Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegenerationProceedings of the National Academy of Sciences of the United States of America, 2010
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisHuman Molecular Genetics, 2010
- Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic DiseaseAmerican Journal of Human Genetics, 2009
- Extensive genomic copy number variation in embryonic stem cellsProceedings of the National Academy of Sciences of the United States of America, 2008
- Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation ProfilesAmerican Journal of Human Genetics, 2008
- Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletionGenome Research, 2008
- PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping dataGenome Research, 2007
- Forerunner genes contiguous to RB1 contribute to the development of in situ neoplasiaProceedings of the National Academy of Sciences of the United States of America, 2007
- Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genesOncogene, 2000