ArticleThe New England journal of medicine2021
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
Registry-linked trialAbstract readCase ReportsLetter
In one paragraph
Article in The New England journal of medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03385876 (Rapid Whole Genome Sequencing), which is not on this map. Cited by 45 papers.
0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Rapid Whole Genome Sequencing (rWGS): Rapid Genomic Sequencing for Acutely Ill Patients and the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data
Who cites it
45 citing papers in PubMed.
- The transformative impact of ultra-rapid nanopore sequencing in precision medicine.Frontiers in immunology · 2026Review
- Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.International journal of molecular sciences · 2025Observational
- Toward Same-Day Genome Sequencing in the Critical Care Setting.The New England journal of medicine · 2025Article
- An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis.Seminars in perinatology · 2025Review
- View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children.European journal of human genetics : EJHG · 2025Article
- Precision medicine in the pediatric and neonatal intensive care units through genomics.Current opinion in pediatrics · 2025Review
- Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO).Journal of perinatology : official journal of the California Perinatal Association · 2025Article
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- Storing paediatric genomic data for sequential interrogation across the lifespan.Journal of medical ethics · 2025Article
- Academic influencers: Clinical and Translational Science scholars and trainees at the intersection of influential scholarship and public attention.Journal of clinical and translational science · 2025Article
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
- Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities.Annals of medicine · 2024Article
- Complement system activation: bridging physiology, pathophysiology, and therapy.Intensive care medicine · 2024Review
- Integrating genomic and molecular data to predict antimicrobial minimum inhibitory concentration in Klebsiella pneumoniae.Scientific reports · 2024Article
- Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.NPJ genomic medicine · 2024Review
- Construction and optimization of multi-platform precision pathways for precision medicine.Scientific reports · 2024Article
- Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics.Childhood kidney diseases · 2024Review
- Genomic medicine in neonatal care: progress and challenges.European journal of human genetics : EJHG · 2023Review
- Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.Journal of perinatology : official journal of the California Perinatal Association · 2023Review
- Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.Molecular aspects of medicine · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors.
Mallory J OwenRady Children's Institute for Genomic Medicine, San Diego, CA mowen1@rchsd.org.
Anna-Kaisa NiemiRady Children's Hospital, San Diego, CA.
David P DimmockRady Children's Institute for Genomic Medicine, San Diego, CA.
Mark SpezialeRady Children's Hospital, San Diego, CA.
Mark NespecaRady Children's Hospital, San Diego, CA.
Kevin K ChauRady Children's Institute for Genomic Medicine, San Diego, CA.
Luca Van Der KraanRady Children's Institute for Genomic Medicine, San Diego, CA.
Meredith S WrightRady Children's Institute for Genomic Medicine, San Diego, CA.
Christian HansenRady Children's Institute for Genomic Medicine, San Diego, CA.
Narayanan VeeraraghavanRady Children's Institute for Genomic Medicine, San Diego, CA.
Yan DingRady Children's Institute for Genomic Medicine, San Diego, CA.
Jerica LenbergRady Children's Institute for Genomic Medicine, San Diego, CA.
Shimul ChowdhuryRady Children's Institute for Genomic Medicine, San Diego, CA.
Charlotte A HobbsRady Children's Institute for Genomic Medicine, San Diego, CA.
Sergey BatalovRady Children's Institute for Genomic Medicine, San Diego, CA.
Zhanyang ZhuRady Children's Institute for Genomic Medicine, San Diego, CA.
Shareef A NahasRady Children's Institute for Genomic Medicine, San Diego, CA.
Sheldon GilmerRady Children's Hospital, San Diego, CA.
Gail KnightRady Children's Hospital, San Diego, CA.
Sebastien LefebvreAlexion Pharmaceuticals, Boston, MA.
John ReyndersAlexion Pharmaceuticals, Boston, MA.
Thomas DefayAlexion Pharmaceuticals, Boston, MA.
Jacqueline WeirIllumina, San Diego, CA.
Vicki S ThomsonIllumina, San Diego, CA.
Louise FraserIllumina, San Diego, CA.
Bryan R LajoieIllumina, San Diego, CA.
Tim K McPhailIllumina, San Diego, CA.
Shyamal S MehtaliaIllumina, San Diego, CA.
Chris M KunardIllumina, San Diego, CA.
Kevin P HallIllumina, San Diego, CA.
Stephen F KingsmoreRady Children's Institute for Genomic Medicine, San Diego, CA skingsmore@rchsd.org.ORCID 0000-0001-7180-2527
Funding
Scripps Translational Science InstituteUL1TR002550 · NCATS · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2018 to 2022
$28.9MScripps Clinical and Translational Science HubUM1TR004407 · NCATS · SCRIPPS RESEARCH INSTITUTE, THE · PI Eric Jeffrey Topol · 2023 to 2026
$24.2MConProject-001U19HD077693 · NICHD · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · PI KINGSMORE, STEPHEN FRANCIS · 2013 to 2018
$6.2MScripps Translational Science InstituteTL1TR001113 · NCATS · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2013 to 2017
$1.0MNCATS NIH HHS TL1 TR001113NCATS NIH HHS UL1 TR002550NCATS NIH HHS UL1TR002550NCATS NIH HHS UM1 TR004407NICHD NIH HHS U19 HD077693
Abstract
PubMed holds no abstract for this paper.
Indexed as
High-Throughput Nucleotide SequencingBrainBrain DiseasesHumansInfantMaleMetabolism, Inborn ErrorsPrecision MedicineTime FactorsTomography, X-Ray ComputedWhole Genome Sequencing
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
NCT03385876ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.