ArticleGenome research2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor
Article in Genome research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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
33 citing papers in PubMed, 46 citations in OpenAlex.
- Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.American journal of human genetics · 2026Article
- DNA replication fork speed acts as a pacer in cortical neurogenesis.Nature communications · 2025Article
- Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.Clinical genetics · 2025Review
- Exploring Aerobic Energy Metabolism in Breast Cancer: A Mutational Profile of Glycolysis and Oxidative Phosphorylation.International journal of molecular sciences · 2024Article
- Mutations in abnormal spindle disrupt temporal transcription factor expression and trigger immune responses in the Drosophila brain.Genetics · 2023Article
- DONSON is required for CMG helicase assembly in the mammalian cell cycle.EMBO reports · 2023Article
- DNSN-1 recruits GINS for CMG helicase assembly during DNA replication initiation inScience (New York, N.Y.) · 2023Article
- In silico protein interaction screening uncovers DONSON's role in replication initiation.Science (New York, N.Y.) · 2023Article
- Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation.The EMBO journal · 2023Article
- The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.European journal of human genetics : EJHG · 2023Review
- A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.EMBO molecular medicine · 2023Article
- Article
- Time is of the essence: the molecular mechanisms of primary microcephaly.Genes & development · 2021Review
- Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease.Progress in retinal and eye research · 2021Review
- Review
- The microcephaly gene Donson is essential for progenitors of cortical glutamatergic and GABAergic neurons.PLoS genetics · 2021Article
- Replication of the Mammalian Genome by Replisomes Specific for Euchromatin and Heterochromatin.Frontiers in cell and developmental biology · 2021Article
- Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly.Nature communications · 2020Article
- Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.Molecular genetics & genomic medicine · 2020Article
- DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.Nature communications · 2020Article
Corrections and comments
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Authors and funding
34 authors at 9 institutions in 4 countries.
Funding
Abstract
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS). MMS is an autosomal recessive condition described thus far in only a single First Nations population and causes intrauterine growth restriction, severe microcephaly, craniofacial anomalies, skeletal dysplasia, and neonatal lethality. Linkage analysis of affected families, including a very large pedigree, identified a single locus on Chromosome 21 linked to the disease (LOD > 9). Comprehensive genome sequencing did not reveal any pathogenic coding or canonical splicing mutations within the linkage region but identified several nonconserved noncoding variants. RNA-seq analysis detected aberrant splicing in
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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.