ReviewEuropean journal of human genetics : EJHG2019
European guidelines for constitutional cytogenomic analysis.
Review in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 2 of them syntheses 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
81 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.Clinical genetics · 2021Pooled it
- Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?European journal of human genetics : EJHG · 2026Article
- Approach to Disorders of Sex Development in the Genomic Era.Indian journal of pediatrics · 2026Review
- Rapid prenatal CNV detection using nanopore technology.BMC research notes · 2026Article
- Placental insufficiency markers to assess the risk of non-chromosomal genetic conditions in early-onset fetal growth restriction.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Article
- Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns.Journal of clinical laboratory analysis · 2026Article
- Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study.Journal of translational medicine · 2026Article
- Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis.The application of clinical genetics · 2026Article
- Article
- Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report.The American journal of case reports · 2025Article
- Review
- Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.International journal of molecular sciences · 2025Article
- Morphology combined withJournal of clinical pathology · 2025Article
- Array Comparative Genomic Hybridization (aCGH) Results among Patients Referred to Invasive Prenatal Testing after First-Trimester Screening: A Comprehensive Cohort Study.Diagnostics (Basel, Switzerland) · 2024Article
- Genetic landscape of thrombophilia in recurrent miscarriages.Obstetrics & gynecology science · 2024Article
- Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.Journal of clinical medicine · 2024Article
- The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.Children (Basel, Switzerland) · 2024Review
- Practical guidelines of the EOTTD for pathological and genetic diagnosis of hydatidiform moles.Virchows Archiv : an international journal of pathology · 2024Review
- Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.Orphanet journal of rare diseases · 2024Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
With advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario. These new guidelines therefore aim to provide an updated, practical and easily available document that will enable genetic laboratories to operate within acceptable standards and to maintain a quality service.
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.