ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 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.
The trial behind it
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Who cites it
92 citing papers in PubMed.
- Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.Prenatal diagnosis · 2026Article
- Utility of High-Throughput Genomic Analysis for Genetic Counseling in Large Family with Wilson Disease Carrying a Novel 28-bpDiagnostics (Basel, Switzerland) · 2026Article
- Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.Research square · 2026Article
- A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR.Molecular cytogenetics · 2026Article
- Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes.Molecular genetics & genomic medicine · 2026Article
- Article
- UPDhmm: detecting uniparental disomy from NGS trio data.Bioinformatics (Oxford, England) · 2026Article
- Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis.HGG advances · 2026Article
- Regions of Homozygosity Identified with a Chromosomal Microarray in a Korean Population: Distribution, Frequency, and Clinical Interpretation.Annals of laboratory medicine · 2026Article
- Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach.Human reproduction open · 2026Article
- Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study.Journal of translational medicine · 2025Article
- Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing.Prenatal diagnosis · 2025Review
- Prenatal diagnosis and genetic counseling of a case with trisomy 20 mosaicism and mixed-type maternal UPD20.Practical laboratory medicine · 2025Article
- Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.International journal of molecular sciences · 2025Article
- Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review.Orphanet journal of rare diseases · 2025Review
- Mixed Segmental Uniparental Disomy of Chromosome 15q11-q1 Coexists with Homozygous Variant inGenes · 2025Article
- Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review.Diagnostics (Basel, Switzerland) · 2025Article
- A retrospective single center analysis of fetuses with region of homozygosity detected by single nucleotide polymorphism array.Scientific reports · 2025Article
- Article
- Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.JAMA network open · 2025Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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.