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D-Index & Metrics

Genetics

D-Index
90
Citations
34691
World Ranking
1069
National Ranking
515

Overview

Stephen F. Kingsmore is affiliated with Rady Children's Hospital-San Diego in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with a significant focus also on Medicine. Within these broad fields, their work is deeply engaged with Genetics, Molecular Biology, Epidemiology, Cancer Research, and Pediatrics, Perinatology and Child Health.

Their research topics prominently cover areas such as Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders, Genetic factors in colorectal cancer, Congenital heart defects research, and Prenatal Screening and Diagnostics.

Frequent coauthors collaborating with Stephen F. Kingsmore include David Dimmock, Erica Sanford Kobayashi, Charlotte A. Hobbs, Yan Ding, and Shimul Chowdhury.

They have contributed to several journals and publication venues, appearing most frequently in UNC Libraries, bioRxiv (Cold Spring Harbor Laboratory), npj Genomic Medicine, The American Journal of Human Genetics, and Genetics in Medicine.

Among their recent papers are:

  • Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care, 2021, The American Journal of Human Genetics
  • An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm, 2020, The American Journal of Human Genetics
  • A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases, 2022, The American Journal of Human Genetics
  • Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases, 2021, Genome Medicine
  • The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change, 2023, Genetics in Medicine

Best Publications

  • Alternative Isoform Regulation in Human Tissue Transcriptomes

    Eric T. Wang;Rickard Sandberg;Rickard Sandberg;Shujun Luo;Irina Khrebtukova

  • Comprehensive human genome amplification using multiple displacement amplification

    Frank B. Dean;Seiyu Hosono;Linhua Fang;Xiaohong Wu

  • Multiplexed protein measurement: technologies and applications of protein and antibody arrays

    Stephen F. Kingsmore

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

    Callum J. Bell;Darrell L. Dinwiddie;Darrell L. Dinwiddie;Neil A. Miller;Neil A. Miller;Shannon L. Hateley

  • Immunoassays with rolling circle DNA amplification: a versatile platform for ultrasensitive antigen detection.

    Barry Schweitzer;Steven Wiltshire;Jeremy Lambert;Shawn O'Malley

  • Multiplexed protein profiling on microarrays by rolling-circle amplification

    Barry Schweitzer;Scott Roberts;Brian Grimwade;Weiping Shao

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

    Carol Jean Saunders;Neil Andrew Miller;Neil Andrew Miller;Sarah Elizabeth Soden;Sarah Elizabeth Soden;Darrell Lee Dinwiddie

  • Identification of the homologous beige and Chediak–Higashi syndrome genes

    Maria D. F. S. Barbosa;Quan A. Nguyen;Velizar T. Tchernev;Jennifer A. Ashley

  • Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

    Joshua D. Milner;Tiphanie P. Vogel;Lisa Forbes;Chi A. Ma

  • Unbiased Whole-Genome Amplification Directly From Clinical Samples

    Seiyu Hosono;A. Fawad Faruqi;Frank B. Dean;Yuefen Du

  • Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis.

    Sergio E. Baranzini;Joann Mudge;Jennifer C. Van Velkinburgh;Pouya Khankhanian

  • An Integrated Clinico-Metabolomic Model Improves Prediction of Death in Sepsis

    Raymond J. Langley;Raymond J. Langley;Ephraim L. Tsalik;Ephraim L. Tsalik;Jennifer C. Van Velkinburgh;Seth W. Glickman;Seth W. Glickman

  • Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

    Sarah E. Soden;Sarah E. Soden;Carol J. Saunders;Laurel K. Willig;Laurel K. Willig;Emily G. Farrow

  • 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;Lauge Farnaes;Tiong Y. Tan

  • Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

    Wei Li;Qing Zhang;Naoki Oiso;Edward K Novak

  • Gene Expression Signatures Diagnose Influenza and Other Symptomatic Respiratory Viral Infections in Humans

    Aimee K. Zaas;Minhua Chen;Jay Varkey;Timothy Veldman

  • A highly annotated whole-genome sequence of a Korean individual

    Jong-Il Kim;Young Seok Ju;Hansoo Park;Sheehyun Kim

  • Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

    Laurel K Willig;Laurel K Willig;Josh E Petrikin;Josh E Petrikin;Laurie D Smith;Laurie D Smith;Carol J Saunders;Carol J Saunders

  • Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.

    Lauge Farnaes;Lauge Farnaes;Amber Hildreth;Amber Hildreth;Nathaly M. Sweeney;Nathaly M. Sweeney;Michelle M. Clark

  • Genome-Wide Association Studies: Progress in Identifying Genetic Biomarkers in Common, Complex Diseases

    Stephen F. Kingsmore;Ingrid E. Lindquist;Joann Mudge;William D. Beavis

Frequent Co-Authors

Christopher W. Woods
Christopher W. Woods Duke University
Mikko Hallman
Mikko Hallman Oulu University Hospital
Vance G. Fowler
Vance G. Fowler Duke University
Geoffrey S. Ginsburg
Geoffrey S. Ginsburg Duke University
Joann Mudge
Joann Mudge National Center for Genome Resources
Dhavalkumar D. Patel
Dhavalkumar D. Patel University of North Carolina at Chapel Hill
Marc G. Caron
Marc G. Caron Duke University
Gary P. Schroth
Gary P. Schroth Illumina (United States)
Lawrence Carin
Lawrence Carin Duke University
Shujun Luo
Shujun Luo Predicine

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