Stephen F. Kingsmore
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Neonatal Respiratory Health Research
Most-Cited Works
- → Alternative isoform regulation in human tissue transcriptomes(2008)5,305 cited
- → Comprehensive human genome amplification using multiple displacement amplification(2002)1,465 cited
- → Multiplexed protein measurement: technologies and applications of protein and antibody arrays(2006)713 cited
- → Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing(2011)706 cited
- → Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units(2012)668 cited
- → Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases(2018)622 cited
- → Immunoassays with rolling circle DNA amplification: A versatile platform for ultrasensitive antigen detection(2000)594 cited
- → Multiplexed protein profiling on microarrays by rolling-circle amplification(2002)569 cited
- → Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations(2014)547 cited
- → Identification of the homologous beige and Chediak–Higashi syndrome genes(1996)547 cited