Andy Itsara

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 803 citations · Full text

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

Developmental Biology, Two-hit Model, Genetics +8

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Andy Itsara, Gregory M. Cooper, Carl Baker et al. · The American Journal of Human Genetics · 2009 · 622 citations · Full text

Haplotype Determination, Allelic Variant, Medicine +12

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson et al. · Genome Research · 2015 · 356 citations · Full text

Genome-wide Association Study, Epidemiology, Sequencing +15

De novo rates and selection of large copy number variation

Andy Itsara, Hao Wu, Joshua D. Smith et al. · Genome Research · 2010 · 331 citations · Full text