GuidelineGenetics in medicine : official journal of the American College of Medical Genetics2011
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Guideline in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02980302 (Development of the Tool " iPSC "), which is not on this map. Cited by 453 papers, 1 of them a synthesis that pooled it.
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.
Development of the Tool " iPSC " (Induced Pluripotent Stem Cells) for the Functional Study of Mutations Responsible for Mental Retardation - Application to Familial Study of MYT1L Gene Mutations
Who cites it
453 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.JAMA psychiatry · 2022Pooled it
- Clinical utility of chromosomal microarray analysis in prenatal diagnosis of fetuses with ultrasound soft markers: A retrospective single-center comparative study with karyotyping.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service.Alcohol, clinical & experimental research · 2026Article
- Article
- Clinical impact of genetic testing in inherited kidney diseases.Clinical kidney journal · 2026Article
- Functional Study of Al Kaissi Syndrome Caused by a PrenatalMaternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2026Article
- Identification of chromosomal abnormalities in miscarriages using single-nucleotide polymorphism arrays.Archives of gynecology and obstetrics · 2026Article
- Chromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study.Molecular cytogenetics · 2026Article
- Integrative approach for delineating structural variants using optical genome mapping and long-read genome sequencing.Molecular biology reports · 2026Article
- Electro-clinical features of Mowat-Wilson syndrome: A retrospective study of 31 children in mainland China.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Genome-wide rare copy number variations potentially associated with drug resistance in epilepsy.Scientific reports · 2026Article
- Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns.Journal of clinical laboratory analysis · 2026Article
- Kidney transplantation outcomes in children with WT1-associated kidney disease: a single-center cohort study.Frontiers in pediatrics · 2026Article
- Optical genome mapping of a complex structural rearrangement family line on chromosome 18.Hereditas · 2025Article
- Prenatal diagnosis of 15q13.3 deletion and duplication syndrome: what do we tell the prospective parents?Archives of gynecology and obstetrics · 2025Article
- Assessing the clinical application value of SNP-array in fetal central nervous system malformations.Human genomics · 2025Article
- Clinical application of CNV-seq for diagnosing abnormal brain development in children.Scientific reports · 2025Article
- A novel USP27X missense variant identified in an individual with intellectual disability.Journal of human genetics · 2025Article
- Article
- The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification.Diagnostics (Basel, Switzerland) · 2025Article
393 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
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting.
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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.