Trial reportScientific reports2020
The genetics of situs inversus without primary ciliary dyskinesia.
Trial report in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.Clinical genetics · 2026Pooled it
- Acute appendicitis and situs viscerum inversus: radiological and surgical approach-a systematic review.European journal of medical research · 2023Pooled it
- Prevalence and cardiovascular phenotypes of dextrocardia and situs inversus among 277,396 adults: longitudinal evidence of amplified age-related blood pressure progression.Orphanet journal of rare diseases · 2026Article
- Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese Population.Molecular genetics & genomic medicine · 2026Article
- Situs Inversus Totalis and Severe Early-Onset Developmental Epileptic Encephalopathy in a Child With a Homozygous CFAP52 Mutation: A Case Report.Clinical case reports · 2026Article
- Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis.Brain structure & function · 2026Article
- Article
- A case of situs inversus totalis with sigmoid volvulus: a case report of a rare coexistence.Annals of medicine and surgery (2012) · 2025Article
- Addressing Patient-Provider Communication Gaps in Vanishing Twin Syndrome: Implications for Patient Care and Clinical Guidelines.Healthcare (Basel, Switzerland) · 2025Review
- CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.American journal of human genetics · 2025Article
- Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.Human genetics · 2025Article
- Syndromic variants of biliary atresia.World journal of pediatric surgery · 2025Review
- Coronary Artery Bypass Grafting in a Patient With Multivessel Disease and Dextrocardia With Situs Inversus Totalis.Texas Heart Institute journal · 2024Article
- Exome-wide analysis implicates rare protein-altering variants in human handedness.Nature communications · 2024Article
- Laparoscopic Cholecystectomy in a Patient With Situs Inversus: A Case Report and Literature Review.Cureus · 2023Article
- Cerebral Spinal Fluid Volumetrics and Paralimbic Predictors of Executive Dysfunction in Congenital Heart Disease: A Machine Learning Approach Informing Mechanistic Insights.medRxiv : the preprint server for health sciences · 2023Article
- Laparoscopic Cholecystectomy in a Patient with Situs Inversus Totalis and a Double Superior Vena Cava.The American journal of case reports · 2023Article
- Successful Mitral and Tricuspid Valve Repair for Dextrocardia With Situs Inversus Totalis.Annals of thoracic surgery short reports · 2023Article
- Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility.Journal of assisted reproduction and genetics · 2023Article
- Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting.Frontiers in pediatrics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Situs inversus (SI), a left-right mirror reversal of the visceral organs, can occur with recessive Primary Ciliary Dyskinesia (PCD). However, most people with SI do not have PCD, and the etiology of their condition remains poorly studied. We sequenced the genomes of 15 people with SI, of which six had PCD, as well as 15 controls. Subjects with non-PCD SI in this sample had an elevated rate of left-handedness (five out of nine), which suggested possible developmental mechanisms linking brain and body laterality. The six SI subjects with PCD all had likely recessive mutations in genes already known to cause PCD. Two non-PCD SI cases also had recessive mutations in known PCD genes, suggesting reduced penetrance for PCD in some SI cases. One non-PCD SI case had recessive mutations in PKD1L1, and another in CFAP52 (also known as WDR16). Both of these genes have previously been linked to SI without PCD. However, five of the nine non-PCD SI cases, including three of the left-handers in this dataset, had no obvious monogenic basis for their condition. Environmental influences, or possible random effects in early development, must be considered.
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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.