ArticleAmerican journal of human genetics2021
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 319 citations in OpenAlex.
- DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Review
- Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.Human genetics · 2026Article
- Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.medRxiv : the preprint server for health sciences · 2026Article
- DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.European journal of human genetics : EJHG · 2026Article
- Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.European journal of human genetics : EJHG · 2026Article
- Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.Frontiers in cell and developmental biology · 2026Article
- DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.European journal of human genetics : EJHG · 2026Article
- The genetic basis of human height.Nature reviews. Genetics · 2025Review
- A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder.IEEE access : practical innovations, open solutions · 2025Article
- Nanopore sequencing enables combined detection ofFrontiers in genetics · 2025Article
- Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.Journal of inherited metabolic disease · 2025Article
- Epigenomic and phenotypic characterization of DEGCAGS syndrome.European journal of human genetics : EJHG · 2024Article
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.Genome research · 2024Article
- Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.Orphanet journal of rare diseases · 2024Review
- Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice.Genome research · 2024Article
- The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.Human genetics · 2024Article
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.medRxiv : the preprint server for health sciences · 2024Article
- Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.Genes · 2024Review
- Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.Journal of human genetics · 2024Article
Corrections and comments
- Erratum for
Authors and funding
69 authors at 20 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
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.