Stephen F. Kingsmore

Alternative isoform regulation in human tissue transcriptomes

Eric T. Wang, Rickard Sandberg, Shujun Luo et al. · Nature · 2008 · 5.4K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +13

Comprehensive human genome amplification using multiple displacement amplification

Frank B. Dean, Seiyu Hosono, Linhua Fang et al. · Proceedings of the National Academy of Sciences · 2002 · 1.5K citations

Life Sciences, Genetics, Molecular Biology +13

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Callum J. Bell, Darrell L. Dinwiddie, Neil Miller et al. · Science Translational Medicine · 2011 · 712 citations

Life Sciences, Genetics, Molecular Genetics +16

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Carol Saunders, Neil Miller, Sarah Soden et al. · Science Translational Medicine · 2012 · 678 citations

Life Sciences, Genetics, Molecular Genetics +17

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Michelle M. Clark, Zornitza Stark, Lauge Farnaes et al. · npj Genomic Medicine · 2018 · 640 citations · Full text

Life Sciences, Genetics, Pediatrics +17