ArticleJournal of medical genetics2021
Loss of imprinting of the human-specific imprinted gene
Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
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.
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Who cites it
9 citing papers in PubMed.
- Differential methylation at novel putative imprinting control regions on chromosome 20 associated with childhood obesity.Epigenetics · 2026Article
- Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.Research square · 2026Article
- Clinical and Molecular Presentation of a Patient with Paternal Uniparental Isodisomy of Chromosome 16.International journal of molecular sciences · 2025Article
- Approach to the Patient With Suspected Silver-Russell Syndrome.The Journal of clinical endocrinology and metabolism · 2024Review
- C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.Journal of human genetics · 2024Article
- First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Clinical epigenetics · 2022Article
- Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next-generation sequencing analysis.The journal of gene medicine · 2021Article
- Characterization of Copy-Number Variations and Possible Candidate Genes in Recurrent Pregnancy Losses.Genes · 2021Article
- Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype.Frontiers in pediatrics · 2021Article
Corrections and comments
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background
methodsA 6-year-old boy presented with prenatal growth restriction, macrocephaly at birth, forehead protrusion in infancy and clinodactyly of the fifth finger. Methylation, expression, microsatellite marker, single nucleotide polymorphism array and trio whole-exome sequencing analyses were conducted.
resultsIsolated hypomethylation of the
conclusionWe report the first case of isolated
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.