ArticleGenetics in medicine : official journal of the American College of Medical Genetics
American College of Medical Genetics statement of diagnostic testing for uniparental disomy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
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The trial behind it
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Who cites it
41 citing papers in PubMed.
- UPDhmm: detecting uniparental disomy from NGS trio data.Bioinformatics (Oxford, England) · 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
- Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.BMC pediatrics · 2025Article
- Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report.Case reports in genetics · 2025Article
- Heterodisomy in theFrontiers in endocrinology · 2024Article
- Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity.Molecular genetics and genomics : MGG · 2023Article
- Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies.Journal of clinical medicine · 2022Article
- Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.European journal of endocrinology · 2022Article
- Article
- Uniparental disomy in a population of 32,067 clinical exome trios.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China.Frontiers in genetics · 2021Article
- Review
- Prader-Willi syndrome: reflections on seminal studies and future therapies.Open biology · 2020Review
- Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- PMM2-CDG caused by uniparental disomy: Case report and literature review.JIMD reports · 2020Article
- Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.Birth defects research · 2020Review
- Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls.Frontiers in pediatrics · 2020Article
- Article
- Paternal uniparental disomy for chromosome 14: prenatal management.BMJ case reports · 2019Article
- Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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.