Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Genome, Human and Author is Shaw, Chad A  [Clear All Filters]
2018
Song, X. et al. Predicting human genes susceptible to genomic instability associated with /-mediated rearrangements. Genome Res 28, 1228-1242 (2018).
2017
Gambin, T. et al. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med 9, 83 (2017).
2016
Posey, J. E. et al. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med 18, 678-85 (2016).
Campbell, I. M. et al. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat 37, 231-234 (2016).
2015
Gu, S. et al. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet 24, 4061-77 (2015).
Campbell, I. M., Shaw, C. A., Stankiewicz, P. & Lupski, J. R. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 31, 382-92 (2015).