ArticlePLoS genetics2017
Fetal de novo mutations and preterm birth.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 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.
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Who cites it
26 citing papers in PubMed, 44 citations in OpenAlex.
- Polygenic risk for autism spectrum disorder based on four group comparison across term and preterm birth.Scientific reports · 2025Article
- Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.Genome medicine · 2025Article
- Genetic Variants in Recurrent Euploid Pregnancy Loss.medRxiv : the preprint server for health sciences · 2025Article
- Prematurity and genetic liability for autism spectrum disorder.Genome medicine · 2025Article
- Prematurity and Genetic Liability for Autism Spectrum Disorder.medRxiv : the preprint server for health sciences · 2025Article
- Mapping genetic susceptibility to spontaneous preterm birth: analysis of Utah pedigrees to find inherited genetic factors.American journal of obstetrics and gynecology · 2025Article
- Paternal age and neonatal outcomes: a population-based cohort study.Human reproduction open · 2025Article
- Review
- The Role of Genetics in Preterm Birth.Reproductive sciences (Thousand Oaks, Calif.) · 2023Review
- A genome-wide and candidate gene association study of preterm birth in Korean pregnant women.PloS one · 2023Article
- Article
- Parental age and preterm birth: a population-based cohort of nearly 3 million California livebirths from 2007 to 2012.Journal of perinatology : official journal of the California Perinatal Association · 2021Article
- Understanding how biologic and social determinants affect disparities in preterm birth and outcomes of preterm infants in the NICU.Seminars in perinatology · 2021Article
- CNV profiles of Chinese pediatric patients with developmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Germline de novo mutation rates on exons versus introns in humans.Nature communications · 2020Article
- Recent advances in the genetics of preterm birth.Annals of human genetics · 2020Review
- A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.Brain : a journal of neurology · 2020Article
- Article
- PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders.Genomics, proteomics & bioinformatics · 2019Article
- Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2.PLoS genetics · 2019Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Preterm birth (PTB) affects ~12% of pregnancies in the US. Despite its high mortality and morbidity, the molecular etiology underlying PTB has been unclear. Numerous studies have been devoted to identifying genetic factors in maternal and fetal genomes, but so far few genomic loci have been associated with PTB. By analyzing whole-genome sequencing data from 816 trio families, for the first time, we observed the role of fetal de novo mutations in PTB. We observed a significant increase in de novo mutation burden in PTB fetal genomes. Our genomic analyses further revealed that affected genes by PTB de novo mutations were dosage sensitive, intolerant to genomic deletions, and their mouse orthologs were likely developmentally essential. These genes were significantly involved in early fetal brain development, which was further supported by our analysis of copy number variants identified from an independent PTB cohort. Our study indicates a new mechanism in PTB occurrence independently contributed from fetal genomes, and thus opens a new avenue for future PTB research.
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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.