Andy Itsara
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Chromosomal and Genetic Variations, Congenital heart defects research, Retinal Diseases and Treatments
Most-Cited Works
- → Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
- → A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
- → Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease(2009)624 cited
- → Actionable exomic incidental findings in 6503 participants: challenges of variant classification(2015)360 cited
- → De novo rates and selection of large copy number variation(2010)334 cited
- → A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration(2011)54 cited
- → Optimal design of oligonucleotide microarrays for measurement of DNA copy-number(2007)24 cited
- → Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing(2012)23 cited
- → Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing(2014)16 cited