ReviewAmerican journal of medical genetics. Part A2012
Clinical geneticists' views of VACTERL/VATER association.
Review in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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
40 citing papers in PubMed, 104 citations in OpenAlex.
- Article
- A Population-Based Assessment of Cancer Risk in Children With VACTERL.American journal of medical genetics. Part A · 2026Article
- A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.European journal of human genetics : EJHG · 2026Article
- Loss of wbp11 causes multi-system developmental defects: a zebrafish model of VACTERL association.Frontiers in cell and developmental biology · 2026Article
- Metabolic reprogramming in Fanconi anemia: Evidence of compromised glucose oxidation, enhanced ketogenesis, and metabolic inflexibility.Science advances · 2025Article
- Molecular mechanism, diagnosis, and treatment of VACTERL association.Frontiers in pediatrics · 2025Review
- Anorectal malformations.Nature reviews. Disease primers · 2024Review
- Routine whole spine magnetic resonance imaging for patients with anorectal malformations.Scientific reports · 2024Article
- Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review.Journal of pediatric genetics · 2024Article
- Letter to the Editor Response.Journal of neurosurgery. Case lessons · 2024Article
- Article
- A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.Pediatric research · 2024Review
- Bovine Aortic Arch with an Aberrant Left Vertebral Artery in a 3-Year-Old Boy with VACTERL Association: A Case Report.The American journal of case reports · 2024Article
- Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations.Molecular medicine reports · 2023Article
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.European journal of human genetics : EJHG · 2023Article
- NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.American journal of medical genetics. Part A · 2022Article
- Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction.BMC pregnancy and childbirth · 2022Article
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
- The Classification of VACTERL Association into 3 Groups According to the Limb Defect.Plastic and reconstructive surgery. Global open · 2021Article
- Maternal risk associated with the VACTERL association: A case-control study.Birth defects research · 2020Article
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 8 institutions in 4 countries.
Funding
Abstract
VACTERL association (sometimes termed "VATER association" depending on which component features are included) is typically defined by the presence of at least three of the following congenital malformations, which tend to statistically co-occur in affected individuals: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Although the clinical criteria for VACTERL association may appear to be straightforward, there is wide variability in the way clinical geneticists define the disorder and the genetic testing strategy they use when confronted with an affected patient. In order to describe this variability and determine the most commonly used definitions and testing modalities, we present the results of survey responses by 121 clinical geneticists. We discuss the results of the survey responses, provide a literature review and commentary from a group of physicians who are currently involved in clinical and laboratory-based research on VACTERL association, and offer an algorithm for genetic testing in patients with this association.
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.