ArticleCold Spring Harbor molecular case studies2020
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Article in Cold Spring Harbor molecular case studies, 2020. 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 15 papers.
What it found
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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
15 citing papers in PubMed, 21 citations in OpenAlex.
- An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.American journal of human genetics · 2020Trial
- A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit.NPJ digital medicine · 2025Article
- A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit.medRxiv : the preprint server for health sciences · 2024Article
- A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant.Clinical case reports · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.NPJ genomic medicine · 2023Article
- Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.JAMA network open · 2023Article
- Molybdenum Cofactor Deficiency in Humans.Molecules (Basel, Switzerland) · 2022Review
- The Role of Genome Sequencing in Neonatal Intensive Care Units.Annual review of genomics and human genetics · 2022Review
- An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.Nature communications · 2022Article
- Healthcare Professionals' Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care.Children (Basel, Switzerland) · 2022Article
- Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.The New England journal of medicine · 2021Article
- Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.Cold Spring Harbor molecular case studies · 2021Article
- Is Rapid Exome Sequencing Standard of Care in the Neonatal and Pediatric Intensive Care Units?The Journal of pediatrics · 2020Article
- Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety.Current treatment options in pediatrics · 2020Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Neonatal encephalopathy with seizures is a presentation in which rapid whole-genome sequencing (rWGS) has shown clinical utility and improved outcomes. We report a neonate who presented on the third day of life with seizures refractory to antiepileptic medications and neurologic and computerized tomographic findings consistent with severe generalized brain swelling. rWGS revealed compound heterozygous variants in the molybdenum cofactor synthesis gene, type 1A (
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Registered trials
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.