Stephen F. Kingsmore

Children’s Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

80h-index29.4kcitations333works6.72yr avg
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Research Topics

Genomics and Rare Diseases(107), Genomic variations and chromosomal abnormalities(30), Metabolism and Genetic Disorders(28), Cancer Genomics and Diagnostics(27), Neonatal Respiratory Health Research(23)

Publications330 total

Systematic review and meta-analysis of humoral immunity proteins and mortality in sepsis
Critical Care·2025Open Access
Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks
2025Open Access
Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial
BMJ Open·2025· 2 citedOpen Access
Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation
The Journal of Pediatrics·2025
Individualized Antisense Oligonucleotides for SCN2A Related Developmental Epileptic Encephalopathy
2025Open Access
Diplotype-based expanded use of individualized allele-specific antisense oligonucleotides
2025Open Access
Genomic Revolution in the Neonatal ICU: Interview with Stephen Kingsmore
European Medical Journal·2025Open Access
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission
npj Genomic Medicine·2025Open Access
Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer System
The Journal of Applied Laboratory Medicine·2025· 2 citedOpen Access
The contribution of de novo coding mutations to meningomyelocele
Nature·2025· 11 cited
Long-term follow-up of children who received rapid genomic sequencing
Genetics in Medicine·2025· 4 cited
The diagnosis and treatment of rare genetic disorders in neonates, infants, and children: the time is now
Pediatric Research·2025
Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants
Annals of Clinical and Translational Neurology·2025· 3 citedOpen Access
P554: Newborn sequencing: Approaches taken by programs around the globe
Genetics in Medicine Open·2025Open Access
P623: BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education
Genetics in Medicine Open·2025Open Access
Palliative Care Outcomes for Critically ill Children After Rapid Whole Genome Sequencing
Journal of Intensive Care Medicine·2024· 1 cited
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection
The American Journal of Human Genetics·2024· 8 citedOpen Access
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial
The American Journal of Human Genetics·2024· 10 citedOpen Access
MPSE provides fast, flexible, and efficient means to identify newborns who will benefit from whole genome sequencing within the first 48 hours of NICU admission
2024Open Access
Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation
2024Open Access
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Frequent Co-authors

Neil Miller(12), David Dimmock(9), Julie A. Cakici(9), Darrell L. Dinwiddie(8), Christopher W. Woods(8), Carol Saunders(7), Michelle M. Clark(7), Lauge Farnaes(7), Geoffrey S. Ginsburg(7), Narayanan Veeraraghavan(7), Emily Farrow(6), Laurel K. Willig(6), Laurie D. Smith(6), Nathaly M. Sweeney(6), Shimul Chowdhury(6), Joann Mudge(5), Barry Schweitzer(5), Raymond J. Langley(5), Ephraim L. Tsalik(5), Lawrence Carin(5)