In one paragraphArticle in medRxiv : the preprint server for health sciences, 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
5 · Who and what moneyAuthors and funding
16 authors.
Nadja LouwDivision of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.ORCID 0009-0007-3716-8172 Prince MakayCenter for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.ORCID 0000-0002-2910-9590 Phelelani T MpangaseSydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand. Johannesburg, South Africa.ORCID 0000-0001-8280-8940 Thirona NaickerDepartment of Paediatrics, Medical Genetics, School of Clinical Medicine, University of KwaZulu-Natal, Durban, South Africa.ORCID 0000-0001-7146-7159 Laura M YatesKwazulu-Natal Research Innovation and Sequencing Platform (KRISP), University of KwaZulu-Natal, Durban, South Africa.
Engela HoneyDepartment of Biochemistry, Genetics and Microbiology, Faculty of Natural and Agricultural Science, University of Pretoria, Pretoria, South Africa.ORCID 0000-0002-4587-2844 Gerrye MbunguCenter for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
Kris Van Den BogaertCenter for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium.ORCID 0000-0003-4525-5907 Prosper Lukusa TshiloboCenter for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.ORCID 0000-0002-5414-2915 Koen DevriendtCenter for Human Genetics, University Hospitals, University of Leuven, Leuven, Belgium.
Amanda KrauseDivision of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.ORCID 0000-0002-7157-0807 Nadia CarstensDivision of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.ORCID 0000-0003-4754-7030 Aimé LumakaCenter for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.ORCID 0000-0002-5468-8678 Zané LombardDivision of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg, South Africa.ORCID 0000-0002-7997-2616 Funding
Deciphering Developmental Disorders in Africa (DDD-Africa) - Evaluating Clinical Exome Sequencing in an African SettingU01MH115483 · NIMH · WITS HEALTH CONSORTIUM (PTY), LTD · PI LOMBARD, ZANE · 2017 to 2021
$1.3MAdvancing discovery for developmental disorders - expanded analysis of the DDD-Africa resourceU01HD114537 · NICHD · WITS HEALTH CONSORTIUM (PTY), LTD · PI LOMBARD, ZANE · 2023 to 2025
$747kNICHD NIH HHS U01 HD114537NIMH NIH HHS U01 MH115483
6 · The paper itselfAbstract
Copy number variants (CNV) contribute significantly to the pathogenic variation associated with developmental disorders. CNV detection is often not included in standard exome sequencing (ES) analysis. Complementary methods such as chromosomal microarray are typically offered in diagnostic laboratories to diagnose pathogenic CNV. In this study, we aimed to develop an optimal approach for incorporating CNV detection within our ES analysis process for the Deciphering Developmental Disorders in Africa (DDD-Africa) cohort. We analyzed ES data from 505 probands with a developmental disorder, applying a CNV detection approach that assessed data generated using the tools CANOES and XHMM. When available, parental ES data was used to assess inheritance patterns. We confirmed a diagnosis in 42/505 (8,3%) patients with 44 pathogenic CNV identified in the probands. There were 31 deletions and 13 duplications. Among the 27 probands with parental data, all identified CNV were
Indexed as
Africacopy number variationExome sequencinggenomic medicinelow- and middle-income countries
Identifiers
PMID41674648
PMCPMC12889869
What Socratic holds
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