ArticleFrontiers in genetics2018
Parental Mosaicism in
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Article in Frontiers in genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.7field-weighted citation impact, top 9% of its field
What it found
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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.
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.
Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Clinical practice guideline for aniridia.Japanese journal of ophthalmology · 2026Article
- Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.Ophthalmology and therapy · 2025Review
- Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families.Current medical science · 2024Article
- The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.Investigative ophthalmology & visual science · 2024Article
- Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.Molecular systems biology · 2024Article
- A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.BMC medical genomics · 2023Article
- Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.Orphanet journal of rare diseases · 2023Article
- Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.European journal of human genetics : EJHG · 2023Article
- Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling.Research square · 2023Article
- mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing.Scientific reports · 2021Article
- Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.Investigative ophthalmology & visual science · 2021Article
- Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.Molecular genetics & genomic medicine · 2021Article
- Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.Scientific reports · 2021Article
- Systemic and ocular manifestations of a patient with mosaic ARID1A-associated Coffin-Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.Investigative ophthalmology & visual science · 2020Article
- Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.The Journal of molecular diagnostics : JMD · 2020Article
- Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?Japanese journal of ophthalmology · 2020Article
- The Spectrum ofGenes · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 7 institutions in 1 country.
María TarilonteDepartment of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
Matías MorínServicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Patricia RamosDepartment of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
Marta GaldósDepartment of Ophthalmology, Cruces University Hospital, Bilbao, Spain.
Fiona Blanco-KellyDepartment of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
Cristina VillaverdeDepartment of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
Dolores Rey-ZamoraServicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Gema RebolledaDepartment of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Francisco J Muñoz-NegreteDepartment of Glaucoma, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Saoud Tahsin-SwafiriDepartment of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
Blanca GenerCentre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.
Miguel-Angel Moreno-PelayoServicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Carmen AyusoDepartment of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
Manuela VillamarServicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Marta CortonDepartment of Genetics and Genomics, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz, University Hospital - Universidad Autónoma de Madrid, Madrid, Spain.
Centre for Biomedical Network Research on Rare Diseases · ESHospital Universitario Fundación Jiménez Díaz · ESHospital Universitario Ramón y Cajal · ESInstituto de Salud Carlos III · ESInstituto Ramón y Cajal de Investigación Sanitaria · ESUniversidad Autónoma de Madrid · ESHospital de Cruces · ES
Funding
NIMHD NIH HHS L60 MD003721
Abstract
Mutations in
Indexed as
aniridiamicrophthalmiaparental mosaicismPAX6post-zygotic variantsvariable expressivity
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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.