List of works by Stephen F Kingsmore

5'-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene.

scientific article

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

scientific article

A 6000 kb segment of chromosome 1 is conserved in human and mouse.

scientific article

A Novel Compound-Heterozygous Epithelial Cell Adhesion Molecule Mutation in Tufting Enteropathy

scientific article published on 9 November 2014

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

scientific article published on 01 November 2020

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

scientific article published on 26 September 2019

A community approach to mortality prediction in sepsis via gene expression analysis.

scientific article published on 15 February 2018

A high-density integrated genetic linkage and radiation hybrid map of the laboratory rat.

scientific article published on June 1999

A highly annotated whole-genome sequence of a Korean individual

scientific article

A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2.

scientific article

A host-based RT-PCR gene expression signature to identify acute respiratory viral infection

scientific article

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

scientific article

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

scientific article

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

scientific article

Alström Syndrome: Mutation Spectrum of ALMS1.

scientific article published on 18 May 2015

Alternative isoform regulation in human tissue transcriptomes

scientific article (publication date: 27 November 2008)

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

scientific article published on 01 November 2020

An actively retrotransposing, novel subfamily of mouse L1 elements

scientific article published on January 1998

An integrated clinico-metabolomic model improves prediction of death in sepsis

scientific article published on July 2013

An integrated transcriptome and expressed variant analysis of sepsis survival and death

scientific article

Association of methotrexate, rheumatoid arthritis and lymphoma: report of 2 cases and literature review

scientific article published on September 1992

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

scientific article

Biallelic loss of GNAS in a patient with pediatric medulloblastoma

scientific article published on 23 October 2019

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

scientific article published in Nature Communications

CD1 defines conserved linkage group border between human chromosomes 1 and mouse chromosomes 1 and 3.

scientific article

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria

scientific article

CXCR3 Polymorphism and Expression Associate with Spontaneous Preterm Birth

Carrier Screening of Recessive Genetic Disorders by Exon Capture and Next-Generation Sequencing.

scientific article published in September 2010

Carrier testing for severe childhood recessive diseases by next-generation sequencing

scientific article published on January 2011

Cerebral Palsy and Polymorphism of the Chemokine CCL18 in Very Preterm Children.

scientific article

Cerebral palsy is characterized by protein mediators in cord serum

scientific article published on 01 February 2004

Characterization of an atypical member of the Na+/Cl(-)-dependent transporter family: chromosomal localization and distribution in GABAergic and glutamatergic neurons in the rat brain.

scientific article published on February 1994

Chemokine CCL18 predicts intraventricular hemorrhage in very preterm infants

scientific article published in September 2010

Clinical detection of deletion structural variants in whole-genome sequences.

scientific article published on 3 August 2016

Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of WT1-associated nephrotic syndrome type 4

scientific article published on 25 August 2020

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

scientific article

Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes

scientific article

Cloning, gene structure and genomic localization of an orphan transporter from mouse kidney with six alternatively-spliced isoforms

scientific journal article

Cloning, pharmacological characterization, and genomic localization of the human creatine transporter

scientific article

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

scientific article published on February 2013

Combining nucleic acid amplification and detection

scientific article

Comment on "validation of a blood-based laboratory test to aid in the confirmation of a diagnosis of schizophrenia".

scientific article published on 23 March 2014

Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases

scientific article

Comprehensive human genome amplification using multiple displacement amplification

scientific article

Concomitant diagnosis of immune deficiency and sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing

scientific article published on 17 December 2018

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

scientific article published on 13 January 2016

Cooccurrence of collagenous colitis with seronegative spondyloarthropathy: report of a case and literature review

scientific article published on December 1993

Cord blood chemokines differentiate between spontaneous and elective preterm births in singleton pregnancies.

scientific article published in February 2011

Cord immunoproteins as predictors of respiratory outcome in preterm infants

scientific article published on 21 November 2008

Correction: Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth

scholarly article by Johanna M Huusko published in September 2018

Cytokine expression patterns associated with systemic adverse events following smallpox immunization

scientific article

Cytokine networks in human severe combined immunodeficiency: a model for regulating T-cell homeostasis.

scientific article published on 13 September 2004

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

scientific article

Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

scientific article

Detection of circulating immune complexes by Raji cell assay: comparison of flow cytometric and radiometric methods

Detection of multiple allergen-specific IgEs on microarrays by immunoassay with rolling circle amplification

article

Development and standardization of multiplexed antibody microarrays for use in quantitative proteomics

scientific article

Development of a phylogenetic tree model to investigate the role of genetic mutations in endometrial tumors

scientific article

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

scientific article published on 27 September 2019

Diagnosis of crystal induced arthritis by dark field microscopy

scientific article published on 01 May 1993

Diagnosis of cytomegalovirus infection from clinical whole genome sequencing

scientific article published on 03 July 2020

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

scientific article published on 01 April 2019

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

scientific article

Discriminative value of inflammatory biomarkers for suspected sepsis

scientific article

Disease progression in hemodynamically stable patients presenting to the emergency department with sepsis

scientific article

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

scientific article

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

scientific article

Emergency medical genomes: a breakthrough application of precision medicine

scientific article published on 30 July 2015

Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

scientific article published on 11 January 2017

Erratum: Identification of the homologous beige and Chediak–Higashi syndrome genes

scientific article published in Nature

Ethical considerations associated with clinical use of next-generation sequencing in children

scientific article published on December 2011

Evaluating the discriminating capacity of cell death (apoptotic) biomarkers in sepsis

scientific article published on 13 November 2018

Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome

Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients

scientific article published on 24 March 2014

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

scientific article published on 10 December 2019

Familial antiphospholipid antibody syndrome: Criteria for disease and evidence for autosomal dominant inheritance

article

Gene expression signatures diagnose influenza and other symptomatic respiratory viral infections in humans

scientific article

Gene expression-based classifiers identify Staphylococcus aureus infection in mice and humans

scientific article (publication date: 2013)

Genetic Mapping of the High-Affinity Nerve Growth Factor Receptor Gene, Ntrk1, to Mouse Chromosome 3

article

Genetic mapping of 20 novel expressed sequence tags from midgestation mouse embryos suggests chromosomal clustering.

scientific article published on February 1997

Genetic mapping of DNA topoisomerase I-related sequences to mouse chromosomes 2 and 14.

scientific article published on April 1994

Genetic mapping of Pp11r, a thymocyte gene expressed during apoptosis, to mouse chromosome 15.

scientific article published on January 1993

Genetic mapping of Rab20 on mouse chromosome 8.

scientific article published in April 1997

Genetic mapping of lysyl oxidase-2 (Loxl) on mouse chromosome 9.

scientific article published in August 1997

Genetic mapping of the ?-arrestin 1 and 2 genes on mouse Chromosomes 7 and 11 respectively

article

Genetic mapping of the Rab5a and Rab5b genes on mouse Chromosomes 17 and 2, respectively

article

Genetic mapping of the T lymphocyte-specific transcription factor 7 gene on mouse chromosome 11

article

Genetic mapping of the choroideremia-like, rab escort protein-2 gene on mouse Chromosome 1

article

Genetic mapping of the glycine receptor ?3 subunit on mouse Chromosome 8

scientific article published on 01 December 1994

Genetic mapping of the mouse topoisomerase II? gene to Chromosome 11

article

Genetic mapping of the tumor-associated mucin 1 gene on mouse chromosome 3.

scientific article

Genetic mapping of vacuolar protein sorting-45 (Vps45) on mouse chromosome 3.

scientific article published in January 1998

Genetic organization of complement receptor-related genes in the mouse.

scientific article published on April 1989

Genome sequencing and mapping reveal loss of heterozygosity as a mechanism for rapid adaptation in the vegetable pathogen Phytophthora capsici

scientific article published on October 2012

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

scientific article

Genome-wide association studies: progress and potential for drug discovery and development

scientific article

Genome-wide association studies: progress in identifying genetic biomarkers in common, complex diseases.

scientific article published on 08 August 2007

Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum

scientific article

Genomic organization of the selectin family of leukocyte adhesion molecules on human and mouse chromosome 1 ⬇️

scientific article published on July 1, 1990

Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

scientific article published in June 1994

Glycogen synthase: a putative locus for diet-induced hyperglycemia.

scientific article

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

scientific article

High-throughput genotyping of single nucleotide polymorphisms with rolling circle amplification

scientific article

Host gene expression classifiers diagnose acute respiratory illness etiology

scientific article published on January 2016

Human metabolic response to systemic inflammation: assessment of the concordance between experimental endotoxemia and clinical cases of sepsis/SIRS.

scientific article

Human ribonuclease A superfamily members, eosinophil-derived neurotoxin and pancreatic ribonuclease, induce dendritic cell maturation and activation

scientific article

Identification of diagnostic biomarkers for infection in premature neonates

scientific article published on 13 July 2008

Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse ⬇️

scientific article published on July 1, 1997

Identification of novel simple sequence length polymorphisms (SSLPs) in mouse by interspersed repetitive element (IRE)-PCR.

scientific article

Identification of the homologous beige and Chediak-Higashi syndrome genes

scientific article

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

scientific article published on August 2000

Incidental swimming with millstones

scientific article published on July 2013

Integrative "omic" analysis of experimental bacteremia identifies a metabolic signature that distinguishes human sepsis from systemic inflammatory response syndromes

scientific article

Is rapid exome sequencing standard of care in the NICU and PICU?

scientific article published on 05 August 2020

Long-range restriction site mapping of a syntenic segment conserved between human chromosome 1 and mouse chromosome 3.

scientific article published in May 1990

Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse

scientific article

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

scientific journal article

Management of High-Throughput DNA Sequencing Projects: Alpheus

scientific article

Measurement of circulating immune complexes containing IgG, IgM, IgA and IgE by flow cytometry: correlation with disease activity in patients with systemic lupus erythematosus

scientific article published on 01 September 1989

Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

scientific article published on 02 November 2020

Measuring proteins on microarrays

scientific article

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

scientific article published on 09 July 2018

Metabolomic derangements are associated with mortality in critically ill adult patients

scientific article published on 30 January 2014

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing

scientific article

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

article

Molecular dynamic simulations of the metallo-beta-lactamase from Bacteroides fragilis in the presence and absence of a tight-binding inhibitor

scientific article published on 28 November 2008

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

scientific article published on 03 February 2020

Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease

scientific article published on 26 August 2020

Multiplex PCR to diagnose bloodstream infections in patients admitted from the emergency department with sepsis

scientific article

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

scientific article published on April 2006

Multiplexed protein profiling on antibody-based microarrays by rolling circle amplification

scientific article

Multiplexed protein profiling on microarrays by rolling-circle amplification

scientific article

Neonatal diabetes mellitus due to a novel variant in the INS gene

scientific article published on 01 August 2019

Newborn Sequencing in Genomic Medicine and Public Health

scientific article

Newborn testing and screening by whole-genome sequencing

scientific article

Next-generation clinical sequencing in a children’s hospital.

scientific article published on 19 September 2011

Next-generation community genetics for low- and middle-income countries

scientific article

Novel Factor XIII variant identified through whole genome sequencing in a child with intracranial hemorrhage

scientific article published on 17 December 2018

Optimization of Rolling-Circle Amplified Protein Microarrays for Multiplexed Protein Profiling

scientific article

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

scientific article published on 11 August 2020

Paternally inherited cis-regulatory structural variants are associated with autism.

scientific article published in April 2018

Perinatal immunoproteins predict the risk of cerebral palsy in preterm children

scientific article published on 31 October 2011

Physical and genetic linkage of the genes encoding Ly-9 and CD48 on mouse and human chromosomes 1

scientific article

Physical linkage of genes encoding the lymphocyte adhesion molecules CD2 and its ligand LFA-3

article

Physical mapping of a family of interferon-activated genes, serum amyloid P-component, and alpha-spectrin on mouse chromosome 1.

scientific article

Physical mapping of the beige critical region on mouse Chromosome 13

scientific article published on 01 October 1996

Pneumonia due to Pneumocystis carinii in a transplant recipient with normal arterial oxygen tension and normal radiographic findings

scientific article published on 01 September 1993

Polymorphisms of the gene encoding Kit ligand are associated with bronchopulmonary dysplasia

article

Population cohort associating chorioamnionitis, cord inflammatory cytokines and neurologic outcome in very preterm, extremely low birth weight infants

scientific article published in March 2006

Positional cloning of the Chediak-Higashi syndrome gene: genetic mapping of the beige locus on mouse chromosome 13

article

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis

scientific article published on 07 October 2020

Presentation of multicentric Castleman's disease with sicca syndrome, cardiomyopathy, palmar and plantar rash

scientific article published on 01 September 1993

Protein microarray analysis of disease activity in pediatric inflammatory bowel disease demonstrates elevated serum PLGF, IL-7, TGF-beta1, and IL-12p40 levels in Crohn's disease and ulcerative colitis patients in remission versus active disease

scientific article

Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis

scientific journal article

Rab17 and Rab18, Small GTPases with Specificity for Polarized Epithelial Cells: Genetic Mapping in the Mouse

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU

scientific article published on 01 November 2019

Rapid whole genome sequencing and precision neonatology

scientific article

Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1.

scientific article published in February 2018

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

scientific article published on 22 April 2021

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

scientific article published on 4 April 2018

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

scientific article

Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.

scientific article published on September 2017

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.

scientific article published on 26 May 2017

Renal systems biology of patients with systemic inflammatory response syndrome

scientific article

Role of natural killer cells in controlling local tumor formation and metastatic manifestation of different 3LL Lewis lung carcinoma cell clones

scientific article published on 01 January 1993

Rolling circle amplification for scoring single nucleotide polymorphisms.

scientific article published in April 2001

Rolling circle amplification: a new approach to increase sensitivity for immunohistochemistry and flow cytometry.

scientific article published on July 2001

Sepsis progression and outcome: a dynamical model

scientific article

Signal amplification by rolling circle amplification on DNA microarrays.

scientific article published on December 2001

Structure, expression, and genetic linkage of the mouse BCM1 (OX45 or Blast-1) antigen. Evidence for genetic duplication giving rise to the BCM1 region on mouse chromosome 1 and the CD2/LFA3 region on mouse chromosome 3

scientific article

Summary of NIH Medical-Surgical Emergency Research Roundtable held on April 30 to May 1, 2009

scientific article published on November 1, 2010

Temporal dynamics of host molecular responses differentiate symptomatic and asymptomatic influenza a infection

scientific article

The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins

scientific article

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

scientific article published on 9 February 2018

The Rab Protein Family: Genetic Mapping of Six Rab Genes in the Mouse

article

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.

scientific article

The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking

scientific article

The human myeloid cell nuclear differentiation antigen gene is one of at least two related interferon-inducible genes located on chromosome 1q that are expressed specifically in hematopoietic cells.

scientific article

Transcriptome sequencing of malignant pleural mesothelioma tumors

scholarly article

USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE.

scientific article

Umbilical artery chemokine CCL16 is associated with preterm preeclampsia and fetal growth restriction

scientific article published on 02 August 2012

Unbiased whole-genome amplification directly from clinical samples

scientific article published on 14 April 2003

Unsupervised Analysis of Transcriptomics in Bacterial Sepsis Across Multiple Datasets Reveals Three Robust Clusters.

scientific article published on 13 March 2018

Utility of next generation sequencing in clinical primary immunodeficiencies

scientific article

Validation of a host response test to distinguish bacterial and viral respiratory infection

scientific article published on 17 October 2019

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth

scientific article published on 12 July 2018

Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility.

scientific article

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

scientific article published on 18 December 2015

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

scientific article published on 27 April 2015

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