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S. Kingsmore · SciRah

Researcher profile · Semantic Scholar

S. Kingsmore

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S. Kingsmore — researcher profile on SciRah

h-index: 76
Works: 250
Citations: 27K

Most-cited papers

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, T. Tan +3 more
2018npj Genomic Medicine553 citations Open access
Semantic Scholar
Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission
S. Karthikeyan, J. Levy, P. de Hoff, G. Humphrey +114 more
2022Nature447 citations Open access
Semantic Scholar
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, Michelle M. Clark +13 more
2018npj Genomic Medicine419 citations Open access
Semantic Scholar
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
S. Kingsmore, Julie A. Cakici, Michelle M. Clark, Mary Gaughran +66 more
2019American Journal of Human Genetics345 citations Open access
Semantic Scholar
Unsupervised analysis of transcriptomics in bacterial sepsis across multiple datasets reveals three robust clusters
T. Sweeney, T. Azad, Michele Donato, Winston A. Haynes +19 more
2018Critical Care Medicine327 citations Open access
Semantic Scholar
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Michelle M. Clark, Amber Hildreth, Serge Batalov, Yan Ding +57 more
2019Science Translational Medicine285 citations Open access
Semantic Scholar
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
David Dimmock, Sara A. Caylor, Bryce M Waldman, Wendy Benson +31 more
2021American Journal of Human Genetics258 citations Open access
Semantic Scholar
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
J. Petrikin, Julie A. Cakici, Michelle M. Clark, L. Willig +14 more
2017npj Genomic Medicine239 citations Open access
Semantic Scholar
Newborn Sequencing in Genomic Medicine and Public Health
J. Berg, Pankaj B. Agrawal, D. Bailey, A. Beggs +38 more
2017Pediatrics224 citations Open access
Semantic Scholar
A community approach to mortality prediction in sepsis via gene expression analysis
T. Sweeney, T. Perumal, Ricardo Henao, M. Nichols +22 more
2018Nature Communications214 citations Open access
Semantic Scholar
Paternally inherited cis-regulatory structural variants are associated with autism
William M. Brandler, D. Antaki, M. Gujral, Morgan L. Kleiber +38 more
2018Science185 citations Open access
Semantic Scholar
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
D. Dimmock, Michelle M. Clark, Mary Gaughran, Julie A. Cakici +63 more
2020American Journal of Human Genetics180 citations Open access
Semantic Scholar
Rapid whole genome sequencing has clinical utility in children in the pediatric intensive care unit
E. Sanford, Michelle M. Clark, Lauge Farnaes, Matthew R. Williams +14 more
2019Pediatric Critical Care Medicine145 citations Open access
Semantic Scholar
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
S. Kingsmore, Laurie D. Smith, Chris M. Kunard, M. Bainbridge +47 more
2022American Journal of Human Genetics142 citations Open access
Semantic Scholar
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
F. M. de la Vega, S. Chowdhury, Barry Moore, E. Frise +24 more
2021Genome Medicine129 citations Open access
Semantic Scholar
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research
T. Manolio, D. Fowler, Lea M. Starita, M. Haendel +27 more
2017Cell105 citations Open access
Semantic Scholar
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
Julie A. Cakici, D. Dimmock, Sara A. Caylor, Mary Gaughran +5 more
2020American Journal of Human Genetics88 citations Open access
Semantic Scholar
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
Nathaly M. Sweeney, S. Nahas, S. Chowdhury, Serge Batalov +9 more
2021npj Genomic Medicine87 citations Open access
Semantic Scholar
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
S. Lincoln, T. Hambuch, J. Zook, S. Bristow +22 more
2020Genetics in Medicine85 citations Open access
Semantic Scholar
The Role of Genome Sequencing in the NICU
S. Kingsmore, F. S. Cole
2022Annual review of genomics and human genetics (Print)78 citations Open access
Semantic Scholar
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
Jill L. Maron, S. Kingsmore, B. Gelb, J. Vockley +16 more
2023Journal of the American Medical Association (JAMA)73 citations Open access
Semantic Scholar
Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility
Jihoon Kim, C. Shimizu, S. Kingsmore, N. Veeraraghavan +10 more
2017PLoS ONE61 citations Open access
Semantic Scholar
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
Mallory J. Owen, A. Niemi, D. Dimmock, M. Speziale +27 more
2021New England Journal of Medicine57 citations Open access
Semantic Scholar
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
Jill L. Maron, S. Kingsmore, Kristen M. Wigby, S. Chowdhury +15 more
2021JAMA pediatrics53 citations Open access
Semantic Scholar
Validation of a host response test to distinguish bacterial and viral respiratory infection
Emily C Lydon, Ricardo Henao, Thomas W. Burke, M. Aydın +15 more
2019EBioMedicine53 citations Open access
Semantic Scholar
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
Mallory J. Owen, S. Lefebvre, Christian Hansen, Chris M. Kunard +61 more
2022Nature Communications52 citations Open access
Semantic Scholar
Discriminating Bacterial and Viral Infection Using a Rapid Host Gene Expression Test
E. Tsalik, Ricardo Henao, J. Montgomery, Jeff Nawrocki +19 more
2021Critical Care Medicine47 citations Open access
Semantic Scholar
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing
S. Kingsmore, A. Henderson, Mallory J. Owen, Michelle M. Clark +5 more
2020npj Genomic Medicine47 citations Open access
Semantic Scholar
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
J. Friedman, Desirée E. C. Smith, M. Issa, Valentina Stanley +25 more
2019Nature Communications46 citations Open access
Semantic Scholar
Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit
Erica Sanford-Kobayashi, Bryce M Waldman, Branden M. Engorn, K. Perofsky +16 more
2022Frontiers in Pediatrics42 citations Open access
Semantic Scholar
Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth
Johanna M. Huusko, Minna K. Karjalainen, Britney E. Graham, Ge Zhang +23 more
2018PLoS Genetics42 citations Open access
Semantic Scholar
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
Mallory J. Owen, Meredith S. Wright, Serge Batalov, Yonghyun Kwon +13 more
2023JAMA Network Open37 citations Open access
Semantic Scholar
Beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey
S. Kingsmore, The BeginNGS Consortium
2022American Journal of Medical Genetics. Part C, Seminars in Medical Genetics33 citations Open access
Semantic Scholar
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, Michelle M. Clark +13 more
2018npj Genomic Medicine33 citations Open access
Semantic Scholar
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin–Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections
Nathaly M. Sweeney, S. Nahas, S. Chowdhury, M. Del Campo +3 more
2018Cold Spring Harbor molecular case studies31 citations Open access
Semantic Scholar
Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission
S. Karthikeyan, J. Levy, P. de Hoff, G. Humphrey +114 more
2021medRxiv29 citations Open access
Semantic Scholar
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome
Lauge Farnaes, S. Nahas, S. Chowdhury, J. Nelson +3 more
2017Cold Spring Harbor molecular case studies28 citations Open access
Semantic Scholar
3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma
K. Okonechnikov, Aylin Camgöz, Owen S. Chapman, Samee Wani +47 more
2023Nature Communications27 citations Open access
Semantic Scholar
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots
Yan Ding, Mallory J. Owen, Jennie M. Le, Serge Batalov +13 more
2022npj Genomic Medicine26 citations Open access
Semantic Scholar
Evaluating the discriminating capacity of cell death (apoptotic) biomarkers in sepsis
C. Duplessis, Michael Gregory, K. Frey, Matthew R. Bell +12 more
2018Journal of Intensive Care26 citations Open access
Semantic Scholar
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
B. Peterson, E. Hernandez, Charlotte A. Hobbs, Sabrina Malone-Jenkins +10 more
2023Genome Medicine22 citations Open access
Semantic Scholar
Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth
Johanna M. Huusko, H. Tiensuu, A. Haapalainen, A. Pasanen +11 more
2021Scientific Reports20 citations Open access
Semantic Scholar
Maternal, infant and environmental risk factors for sudden unexpected infant deaths: results from a large, administrative cohort
G. Bandoli, R. Baer, Mallory J. Owen, E. Kiernan +3 more
2021Journal of Maternal-Fetal & Neonatal Medicine20 citations Open access
Semantic Scholar
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system
S. Kingsmore, N. Ramchandar, Kiely N. James, A. Niemi +7 more
2020Cold Spring Harbor molecular case studies19 citations Open access
Semantic Scholar
Are we prepared to deliver gene‐targeted therapies for rare diseases?
Timothy W. Yu, S. Kingsmore, R. Green, Tippi C. Mackenzie +10 more
2023American Journal of Medical Genetics. Part C, Seminars in Medical Genetics18 citations Open access
Semantic Scholar
Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing
E. Sanford, Lauge Farnaes, Serge Batalov, M. Bainbridge +5 more
2018Cold Spring Harbor molecular case studies18 citations Open access
Semantic Scholar
Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1
E. Sanford, K. Watkins, S. Nahas, Michael E. Gottschalk +4 more
2018Cold Spring Harbor molecular case studies17 citations Open access
Semantic Scholar
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis
Amber Hildreth, Kristen M. Wigby, S. Chowdhury, S. Nahas +5 more
2017Cold Spring Harbor molecular case studies16 citations Open access
Semantic Scholar
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis
E. Sanford, Marilyn C. Jones, M. Brigger, M. Hammer +4 more
2020Cold Spring Harbor molecular case studies14 citations Open access
Semantic Scholar
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting
Lauren Thompson, A. Larson, Lisa Salz, R. Veith +13 more
2024Frontiers in Pediatrics13 citations Open access
Semantic Scholar

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