Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.
2 · The registry
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.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
19 authors.
Sylvine NiyoyitaCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0009-0005-4787-7728
Esther UwibambeCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0009-0004-2046-9495
Janvier NdinkabandiCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0009-0008-5103-8881
Placide SesongaCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.
Josse Belladone NiyongereCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0009-0002-2776-0627
Benjamin TuyishimireCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0000-0001-7319-3024
Adelaide UrugwiroCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0009-0007-7502-1075
Alype RwamatwaraCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0009-0002-2544-9747
Gisèle IsingizweCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0009-0006-8131-095X
Janvière MutamulizaCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0009-0008-7388-3277
Christian NsanzabaganwaCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.
John BukuruDepartment of Ear, Nose, and Throat, Rwanda Military Referral and Teaching Hospital, Kigali 3377, Rwanda.
Florent RutagaramaDepartment of Paediatrics and Clinical Genetics, Rwanda Military Referral and Teaching Hospital, Kigali 3377, Rwanda.
Agnès MukaruzigaDepartment of Paediatrics and Clinical Genetics, Rwanda Military Referral and Teaching Hospital, Kigali 3377, Rwanda.
Osée KarangwaDepartment of Paediatrics and Clinical Genetics, Rwanda Military Referral and Teaching Hospital, Kigali 3377, Rwanda.
Augustin NdatinyaDepartment of Paediatrics and Clinical Genetics, Rwanda Military Referral and Teaching Hospital, Kigali 3377, Rwanda.
Maurice NsanzaberaDepartment of Paediatrics and Clinical Genetics, Rwanda Military Referral and Teaching Hospital, Kigali 3377, Rwanda.ORCID 0000-0002-6138-5376
Norbert DukuzeCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.
Léon MutesaCentre for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali 4285, Rwanda.ORCID 0000-0002-5308-3706
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
PubMed holds no abstract for this paper.
Indexed as
Adaptor Protein Complex 4Spastic Paraplegia, HereditaryChildChild, PreschoolExome SequencingFemaleGenes, RecessiveHomozygoteHumansMaleMutationPedigreeRwandaSiblingsAdaptor Protein Complex 4AP4S1autosomal recessivegenetic testinghereditary spastic paraplegiaRwandaSPG52
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.
A Rare Homozygous AP4S1 Variant in Rwandan Siblings with Autosomal Recessive Hereditary Spastic Paraplegia Type 52 (SPG52). · full record | OpenQuestion