ReviewBirth defects research. Part A, Clinical and molecular teratology2015
Developments in our understanding of the genetic basis of birth defects.
Review in Birth defects research. Part A, Clinical and molecular teratology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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.
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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
21 citing papers in PubMed.
- Discovering the unexpected: Insights into the dynamics of mouse neural tube closure revealed by time-lapse imaging.Developmental biology · 2026Review
- Convergent flow-mediated mesenchymal force drives embryonic foregut constriction and splitting.Nature communications · 2025Article
- Convergent flow-mediated mesenchymal force drives embryonic foregut constriction and splitting.bioRxiv : the preprint server for biology · 2025Article
- Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities.Scientific reports · 2025Article
- Bibliometric analysis of hypospadias from 1998-2023.Frontiers in surgery · 2025Article
- Genome-wide analysis of spina bifida risk variants in a case-control study from Bangladesh.Birth defects research · 2024Article
- Deletion of taf1 and taf5 in zebrafish capitulate cardiac and craniofacial abnormalities associated with TAFopathies through perturbations in metabolism.Biology open · 2023Article
- Gene-environment interactions in birth defect etiology: Challenges and opportunities.Current topics in developmental biology · 2023Review
- Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.Scientific reports · 2022Article
- Mutational Assessment inInternational journal of environmental research and public health · 2022Article
- Methodology for Free-Floating Organ Culture of Mid-gestation Maxillary Primordial Tissue.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Zebrafish models of fetal alcohol spectrum disorders.Genesis (New York, N.Y. : 2000) · 2021Review
- Δ9-Tetrahydrocannabinol inhibits Hedgehog-dependent patterning during development.Development (Cambridge, England) · 2021Article
- A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects.Frontiers in genetics · 2021Article
- Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.BMC medical genomics · 2020Article
- Genome-wide association studies of structural birth defects: A review and commentary.Birth defects research · 2019Review
- Pilot study of a novel multi-functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single-gene disorder screening.Molecular genetics & genomic medicine · 2019Article
- Definition of transcriptome-based indices for quantitative characterization of chemically disturbed stem cell development: introduction of the STOP-ToxArchives of toxicology · 2017Article
- Risk estimates of recurrent congenital anomalies in the UK: a population-based register study.BMC medicine · 2017Article
- Obstetric and offspring risks of women's morbid conditions linked to prior anticancer treatments.Reproductive biology and endocrinology : RB&E · 2016Review
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Birth defects are a major cause of morbidity and mortality worldwide. There has been much progress in understanding the genetic basis of familial and syndromic forms of birth defects. However, the etiology of nonsydromic birth defects is not well-understood. Although there is still much work to be done, we have many of the tools needed to accomplish the task. Advances in next-generation sequencing have introduced a sea of possibilities, from disease-gene discovery to clinical screening and diagnosis. These advances have been fruitful in identifying a host of candidate disease genes, spanning the spectrum of birth defects. With the advent of CRISPR-Cas9 gene editing, researchers now have a precise tool for characterizing this genetic variation in model systems. Work in model organisms has also illustrated the importance of epigenetics in human development and birth defects etiology. Here we review past and current knowledge in birth defects genetics. We describe genotyping and sequencing methods for the detection and analysis of rare and common variants. We remark on the utility of model organisms and explore epigenetics in the context of structural malformation. We conclude by highlighting approaches that may provide insight into the complex genetics of birth defects.
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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.