ArticleNPJ genomic medicine2020
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.
Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Pooled it
- Citywide implementation of a rapid whole-genome sequencing program for critically ill pediatric patients.Nature medicine · 2026Article
- Relationship Between Maternal Death and Infant Outcomes in a Longitudinal, Population-Based Dataset.Obstetrics and gynecology · 2026Article
- Genetic Disorders Detectable by Fetal MRI: A Review.Diagnostics (Basel, Switzerland) · 2026Review
- Decoding the dark genome reveals its organisation into modular disease networks.Scientific reports · 2026Article
- Next-Generation Whole-Exome Pattern: Advanced Methods and Clinical Significance.Current gene therapy · 2026Review
- Systemic mRNA-LNP administration in fetuses improves survival in a mouse model of spinal muscular atrophy.Molecular therapy. Methods & clinical development · 2025Article
- Genetic disorders and associated morbidity, mortality, and congenital anomalies in preterm infants born at less than 34 weeks of gestation.BMC pediatrics · 2025Observational
- Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks.medRxiv : the preprint server for health sciences · 2025Article
- Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.European journal of human genetics : EJHG · 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
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.NPJ genomic medicine · 2025Review
- SMN depletion impairs skeletal muscle formation and maturation in a mouse model of SMA.Human molecular genetics · 2025Article
- Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.Human genetics · 2024Article
- Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.BMC pediatrics · 2024Observational
- Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol.BMJ open · 2024Article
- Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.Journal of personalized medicine · 2023Article
- Implications of Genomic Newborn Screening for Infant Mortality.International journal of neonatal screening · 2023Article
- 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Understanding causes of infant mortality shapes public health policy and prioritizes diseases for investments in surveillance, intervention and medical research. Rapid genomic sequencing has created a novel opportunity to decrease infant mortality associated with treatable genetic diseases. Herein, we sought to measure the contribution of genetic diseases to mortality among infants by secondary analysis of babies enrolled in two clinical studies and a systematic literature review. Among 312 infants who had been admitted to an ICU at Rady Children's Hospital between November 2015 and September 2018 and received rapid genomic sequencing, 30 (10%) died in infancy. Ten (33%) of the infants who died were diagnosed with 11 genetic diseases. The San Diego Study of Outcomes in Mothers and Infants platform identified differences between in-hospital and out-of-hospital causes of infant death. Similarly, in six published studies, 195 (21%) of 918 infant deaths were associated with genetic diseases by genomic sequencing. In 195 infant deaths associated with genetic diseases, locus heterogeneity was 70%. Treatment guidelines existed for 70% of the genetic diseases diagnosed, suggesting that rapid genomic sequencing has substantial potential to decrease infant mortality among infants in ICUs. Further studies are needed in larger, comprehensive, unbiased patient sets to determine the generalizability of these findings.
Indexed as
Identifiers
What OpenQuestion holds
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.