ArticleNature genetics2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.
Article in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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.
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Who cites it
25 citing papers in PubMed, 35 citations in OpenAlex.
- Setmelanotide Response Variability in Two Genetically Confirmed Pediatric Kidney Transplant Recipients with Bardet-Biedl Syndrome.International journal of molecular sciences · 2026Article
- Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease.Frontiers in cell and developmental biology · 2026Article
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.Science advances · 2025Article
- Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.Acta ophthalmologica · 2025Article
- Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.European journal of human genetics : EJHG · 2024Review
- Skeletal ciliopathy: pathogenesis and related signaling pathways.Molecular and cellular biochemistry · 2024Review
- Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant inCurrent issues in molecular biology · 2024Article
- Low-frequency inherited complement receptor variants are associated with purpura fulminans.Blood · 2024Article
- Novel Loss of Function Variants inGenes · 2023Article
- Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.American journal of medical genetics. Part A · 2023Article
- Review
- Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.American journal of medical genetics. Part A · 2023Review
- Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.Cold Spring Harbor perspectives in medicine · 2023Review
- PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- A case of Bardet-Biedl syndrome caused by a recurrent variant inBiomedical reports · 2021Article
- Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.Molecular genetics & genomic medicine · 2021Article
- Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Review
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20 authors at 7 institutions in 2 countries.
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Abstract
The influence of genetic background on driver mutations is well established; however, the mechanisms by which the background interacts with Mendelian loci remain unclear. We performed a systematic secondary-variant burden analysis of two independent cohorts of patients with Bardet-Biedl syndrome (BBS) with known recessive biallelic pathogenic mutations in one of 17 BBS genes for each individual. We observed a significant enrichment of trans-acting rare nonsynonymous secondary variants in patients with BBS compared with either population controls or a cohort of individuals with a non-BBS diagnosis and recessive variants in the same gene set. Strikingly, we found a significant over-representation of secondary alleles in chaperonin-encoding genes-a finding corroborated by the observation of epistatic interactions involving this complex in vivo. These data indicate a complex genetic architecture for BBS that informs the biological properties of disease modules and presents a model for secondary-variant burden analysis in recessive disorders.
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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.