In one paragraphArticle in Human mutation, 2024. 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
16 authors.
Lubica DudakovaResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.ORCID 0000-0003-4718-8955 Lenka NoskovaResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.ORCID 0000-0001-7011-4327 Stanislav KmochResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.ORCID 0000-0002-6239-707X Martin FilipecDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.
Ales FilousDepartment of Ophthalmology, Second Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84/1, 150 06 Prague, Czech Republic.
Jana JedlickovaResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.ORCID 0000-0002-1769-1659 Pavlina SkalickaResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.ORCID 0000-0002-7403-3433 Hana HartmannovaResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.ORCID 0000-0001-7787-832X Viktor StraneckyResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.ORCID 0000-0002-2599-6479 Jana DrabovaDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84/1, 150 06 Prague, Czech Republic.ORCID 0000-0002-5821-4744 Drahuse NovotnaDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84/1, 150 06 Prague, Czech Republic.
Marketa HavlovicovaDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84/1, 150 06 Prague, Czech Republic.ORCID 0000-0002-1477-8484 Zdenek SedlacekDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, V Úvalu 84/1, 150 06 Prague, Czech Republic.ORCID 0000-0001-6575-9163 Petra LiskovaResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.ORCID 0000-0001-7834-8486 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
The genetic architecture of corneal endothelial dystrophies remains unknown in a substantial number of affected individuals. The proband investigated in the current study was diagnosed in the neonatal period with bilateral corneal opacification due to primary endothelial cell dysfunction. Neither his parents nor his sister had signs of corneal disease. Conventional karyotyping revealed a
Indexed as
Corneal Dystrophies, HereditaryRegulatory Sequences, Nucleic AcidTranscription FactorsChromosomes, Human, Pair 3FemaleGenetic Predisposition to DiseaseHumansInfant, NewbornMalePedigreeTranslocation, GeneticOvol2 protein, humanTranscription Factors
Identifiers
PMID40225920
PMCPMC11919061
What OpenQuestion holds
Textmetadata
LicenceCC BY
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