Article in International journal of molecular sciences, 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
14 authors.
Anastasiia A BuianovaCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.ORCID 0000-0001-7894-9222
Anastasia S YagizarovaCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.ORCID 0009-0005-6238-581X
Anastasiya V KosykhCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.ORCID 0000-0002-2908-6499
Alexey A KubanovState Research Center of Dermatovenerology and Cosmetology, 3, bld. 6, Korolenko St., Moscow 107076, Russia.
Vera A BelovaCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.ORCID 0000-0001-5930-1965
Anna O ShmitkoCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.ORCID 0000-0001-5256-0892
Arfenya E KaramovaState Research Center of Dermatovenerology and Cosmetology, 3, bld. 6, Korolenko St., Moscow 107076, Russia.ORCID 0000-0003-3805-8489
Aleksandra A MartynovaCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.ORCID 0000-0001-5594-1455
Grigoriy S PodmoskovnikovCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.
Maria A NefedovaState Research Center of Dermatovenerology and Cosmetology, 3, bld. 6, Korolenko St., Moscow 107076, Russia.
Ekaterina S MonchakovskayaState Research Center of Dermatovenerology and Cosmetology, 3, bld. 6, Korolenko St., Moscow 107076, Russia.
Dmitriy O KorostinCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.ORCID 0000-0003-1343-2550
Nadya G GurskayaCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.ORCID 0000-0002-8028-8176
Denis V RebrikovCenter for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 1, bld. 1, Ostrovityanova St., Moscow 117513, Russia.ORCID 0000-0002-1884-1807
Funding
Ministry of Health of the Russian Federation State assignment № 123020800102-9Ministry of Science and Higher Education of the Russian Federation grant no. 075-15-2019-1789
6 · The paper itself
Abstract
Inherited epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by fragile skin that blisters easily. Targeted therapies for EB necessitate personalized approaches, underscoring the importance of precise diagnostics through genetic analysis and skin biopsy using transmission electron microscopy and/or immunohistochemistry. This study highlights the application of whole-exome sequencing (WES) to identify key pathogenic variants associated with EB. Most identified variants were associated with the recessive form of dystrophic EB, including four novel
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.
Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa. · full record | OpenQuestion