In one paragraphArticle in Circulation. Genomic and precision medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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.
2 · The registryThe 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.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
20 authors.
Timothy F SpracklenDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0002-7919-6848 Thomas AldersleyDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0002-8911-8771 John LawrensonDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0002-2192-171X Paul HumanDivision of Cardiothoracic Surgery, Department of Medicine (P.H., A.B.), University of Cape Town, South Africa.ORCID 0000-0002-6007-5827 Fenny ShidhikaDepartment of Pediatric and Congenital Cardiology, Windhoek Central Hospital, Namibia (F.S.).
George ComitisDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0001-8464-744X Barend FourieDepartment of Pediatrics and Child Health, University of Stellenbosch, South Africa (B.F.).
Andre BrooksDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0002-6034-6105 Lenise SwansonDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0009-0007-6025-9021 Rik De DeckerDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0002-3968-8805 Kélin EngelCape Heart Institute (T.F.S., K.E., K.S., G.S., L.J.Z.), University of Cape Town, South Africa.ORCID 0009-0005-0566-680X Alexia JoachimDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0001-5251-5688 Phaphama MagadlaDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.
Hope-Kirsten EdwardsDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0009-0005-1448-8451 Karen SliwaCape Heart Institute (T.F.S., K.E., K.S., G.S., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0002-8272-0911 Gasnat ShaboodienCape Heart Institute (T.F.S., K.E., K.S., G.S., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0002-4217-1487 Raj RamesarUCT/MRC Genomics & Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology (R.R.), University of Cape Town, South Africa.ORCID 0000-0001-5688-1634 Bernard D KeavneyDivision of Cardiovascular Sciences, Faculty of Biology, Medicine & Health, The University of Manchester, United Kingdom (B.D.K.).ORCID 0000-0001-9573-0812 Liesl J ZühlkeDepartment of Pediatrics and Child Health (T.F.S., T.A., J.L., G.C., A.B., L.S., R.D.D., A.J., P.M., H.-K.E., L.J.Z.), University of Cape Town, South Africa.ORCID 0000-0003-3961-2760 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
backgroundCongenital heart disease (CHD) is a leading cause of pediatric morbidity and mortality worldwide. The genetics of CHD in African populations is not well understood, although it has been shown in other settings that a genetic diagnosis can have implications for patient management and risk stratification. In this study, we aimed to identify pathogenic and likely pathogenic (P/LP) variants in a cohort of patients with CHD from Southern Africa.
methodsExome sequencing was used to screen 356 patients with diverse cardiac phenotypes from South Africa and Namibia.
resultsA P/LP variant was identified in 28 patients (7.9%). Analysis of 11 parent-child trios revealed a further LP variant in
conclusionsTogether, these data confirm a role for rare deleterious variation in nonsyndromic CHD and demonstrate that a P/LP variant can be identified in 8% of patients from Southern Africa.
Indexed as
Exome SequencingHeart Defects, CongenitalChildChild, PreschoolExomeFemaleHumansInfantMaleMutationPhenotypeSouth AfricaSouthern African Peopleatrioventricular septal defectchildexome sequencingmorbidityphenotype
Identifiers
PMID42037320
PMCPMC13489775
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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