Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

Cole Trapnell, Brian A. Williams, Geo Pertea et al. · Nature Biotechnology · 2010 · 16.5K citations

Life Sciences, Cell Biology, Molecular Biology +16

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

Daehwan Kim, Geo Pertea, Cole Trapnell et al. · Genome biology · 2013 · 13.7K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Differential analysis of gene regulation at transcript resolution with RNA-seq

Cole Trapnell, David G. Hendrickson, Martin Sauvageau et al. · Nature Biotechnology · 2012 · 3.7K citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006

Samantha E. Parker, Mark A. Canfield, Russel Rickard et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2010 · 1.9K citations

Public Health, Maternal Health, Population Health Sciences +16

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

Glenn E. Palomaki, Edward M. Kloza, Geralyn Lambert‐Messerlian et al. · Genetics in Medicine · 2011 · 936 citations

Medicine, Genetics, Obstetrics +17