Alternative isoform regulation in human tissue transcriptomes
2008 · Nature · 5,224 citations
https://doi.org/10.1038/nature07509
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Stephen F. Kingsmore
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Stephen F. Kingsmore is an academic researcher. The author has contributed to research in topics: Genomics and Rare Diseases & Metabolism and Genetic Disorders & Genomic variations and chromosomal abnormalities. The author has an h-index of 80, co-authored 286 publications.
ORCID: 0000-0001-7180-2527Papers by this author
worksRapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
2012 · Science Translational Medicine · 669 citations
https://doi.org/10.1126/scitranslmed.3004041
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
2014 · Science Translational Medicine · 527 citations
https://doi.org/10.1126/scitranslmed.3010076
Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission
2022 · Nature · 498 citations
https://doi.org/10.1038/s41586-022-05049-6
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
2019 · The American Journal of Human Genetics · 348 citations
https://doi.org/10.1016/j.ajhg.2019.08.009
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
2015 · Genome Medicine · 315 citations
https://doi.org/10.1186/s13073-015-0221-8
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