ArticleGenome research2023
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing.
Article in Genome research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
- Integrated genetic and epigenetic diagnosis of facioscapulohumeral muscular dystrophy using Oxford Nanopore long-read sequencing.Journal of human genetics · 2026Article
- Nanopore Ultra-Long Sequencing for FSHD: From Molecular Diagnosis to Preimplantation Genetic Testing.Genes · 2026Review
- Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy.Neurology. Genetics · 2026Article
- Complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS, and reference cohorts with D4Z4End2End.Genome research · 2026Article
- Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats.European journal of human genetics : EJHG · 2026Article
- DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD).Human genomics · 2026Article
- Genome-wide analysis of FSHD cell lines using Nanopore sequencing reveals allele-specific differences at DUX4 target genes and complex repeats.bioRxiv : the preprint server for biology · 2025Article
- A discrete region of the D4Z4 is sufficient to initiate epigenetic silencing.Human molecular genetics · 2025Article
- Non-canonical DNA in human and other ape telomere-to-telomere genomes.Nucleic acids research · 2025Article
- Non-canonical DNA in human and other ape telomere-to-telomere genomes.bioRxiv : the preprint server for biology · 2025Article
- Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.Clinical epigenetics · 2024Article
- Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders.International journal of molecular sciences · 2024Review
- Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.Journal of translational medicine · 2024Article
- Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype.Science advances · 2024Article
- Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.Brain : a journal of neurology · 2024Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Fascioscapulohumeral muscular dystrophy (FSHD) is caused by a unique genetic mechanism that relies on contraction and hypomethylation of the D4Z4 macrosatellite array on the Chromosome 4q telomere allowing ectopic expression of the
Indexed as
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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.