GuidelineGenetics in medicine : official journal of the American College of Medical Genetics2010
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.
Guideline in Genetics in medicine : official journal of the American College of Medical Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT03829176 (Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder), which is not on this map. Cited by 255 papers, 3 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.
Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder
Who cites it
255 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence.Journal of Korean medical science · 2024Pooled it
- Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Pooled it
- Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Chromosome microarray analysis in the investigation of children with congenital heart disease.BMC pediatrics · 2017Trial
- Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Trial
- Trial
- Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.Communications medicine · 2026Review
- Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.Journal of molecular medicine (Berlin, Germany) · 2026Article
- What do European clinical guidelines say about genetic testing for people with neuropsychiatric disorders? A scoping review.Psychiatric genetics · 2026Article
- Advancing Prenatal Diagnosis: From Conventional Karyotyping to Genome-Wide CNV Analysis.Life (Basel, Switzerland) · 2026Review
- Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns.Journal of clinical laboratory analysis · 2026Article
- Correcting PVS1 overestimation: clinical insights into rescue transcripts and variant reclassification in 4 prenatal cases.Frontiers in medicine · 2026Article
- Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series.Molecular genetics & genomic medicine · 2026Article
- Incidental Detection of Acute Leukemia During Genetic Evaluation of Neurodevelopmental Disorder in a Pediatric Clinic: A Case Report.Case reports in pediatrics · 2026Article
- 16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up.Molecular cytogenetics · 2025Article
- Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases.Molecular syndromology · 2025Article
- Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2025Article
- Genetic Testing of Neurodevelopmental Disorders in Israel.JAMA network open · 2025Article
- Review
195 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient's genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. A variety of array-based platforms are now available for use in clinical practice, and utilization strategies are evolving. Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study.
Indexed as
Identifiers
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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.