ArticleClinical genetics2019
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.
Article in Clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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
8 citing papers in PubMed.
- Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.Frontiers in medicine · 2026Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.bioRxiv : the preprint server for biology · 2024Article
- Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.Research square · 2023Article
- A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.Neurogenetics · 2023Article
- [Advances in studies on genetics of syndromes combining sensorineural hearing loss with scoliosis].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Review
- Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.Human genome variation · 2021Article
- A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.American journal of medical genetics. Part A · 2020Article
- Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.Scientific reports · 2020Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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.