ArticleBrain communications2021
Pathogenic
Open access · goldAbstract read
In one paragraph
Article in Brain communications, 2021. 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
1.2field-weighted citation impact, top 21% of its field
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.
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, 25 citations in OpenAlex.
- Second Prenatal Diagnosis of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature.Clinical case reports · 2026Article
- The NR2F1-Related 5q14.3-q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype-phenotype analysis.Frontiers in genetics · 2026Article
- Language and Cognitive Features in a Girl with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.Pediatric reports · 2025Article
- Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.Disease models & mechanisms · 2025Article
- Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.NPJ genomic medicine · 2025Article
- The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.Clinical genetics · 2025Article
- Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.Communications biology · 2025Article
- A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome.Hereditas · 2025Article
- Brain resident microglia in Alzheimer's disease: foe or friends.Inflammopharmacology · 2024Review
- Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion.Protein science : a publication of the Protein Society · 2024Article
- Effective treatment of NR2F1-related epilepsy with perampanel.Acta epileptologica · 2024Article
- Sectorial Ganglion Cell Complex Thickness as Biomarker of Vision Outcome in Patients With Dominant Optic Atrophy.Investigative ophthalmology & visual science · 2024Article
- Molecular mechanisms controlling vertebrate retinal patterning, neurogenesis, and cell fate specification.Trends in genetics : TIG · 2023Review
- NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome.Disease models & mechanisms · 2023Article
- Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.Investigative ophthalmology & visual science · 2022Review
- Review
- Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.Genes · 2021Article
- Structural and Functional Aspects of the Neurodevelopmental GeneFrontiers in molecular neuroscience · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
41 authors at 13 institutions in 8 countries.
Neringa JurkuteMoorfields Eye Hospital NHS Foundation Trust, London, UK.ORCID https://orcid.org/0000-0002-3092-7451
Michele BertacchiUniversité Côte d'Azur, CNRS, Inserm, iBV, Nice, France.
Gavin ArnoMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Chiara ToccoUniversité Côte d'Azur, CNRS, Inserm, iBV, Nice, France.ORCID https://orcid.org/0000-0002-2616-0198
Ungsoo Samuel KimMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Adam M KruszewskiDepartment of Neurology, Hospital of the University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
Robert A AveryDivision of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Emma C BedoukianRoberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jinu HanInstitute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.ORCID https://orcid.org/0000-0002-8607-6625
Sung Jun AhnDepartment of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Nikolas PontikosMoorfields Eye Hospital NHS Foundation Trust, London, UK.ORCID https://orcid.org/0000-0003-1782-4711
James AchesonMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Indran DavagnanamMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Richard BowmanDepartment of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Marios KaliakatsosPaediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Alice GardhamNorth West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
Emma WakelingNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Ngozi OluonyeMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Maddy Ashwin ReddyMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Elaine ClarkDepartment of Neuroscience, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Elisabeth RosserDepartment of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Patrizia Amati-BonneauMitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
Majida CharifMitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
Guy LenaersMitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
Isabelle MeunierInstitut des Neurosciences de Montpellier, INSERM INSERM U1051, Université de Montpellier, Montpellier, France.
Sabine DefoortService d'exploration de la vision et neuro-ophtalmologie, CHRU de Lille, Lille, France.
Catherine Vincent-DelormeService de Génétique médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France.
Anthony G RobsonMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Graham E HolderInstitute of Ophthalmology, University College London, London, UK.
Luc JeanjeanDepartment of Ophthalmology, University Hospital of Nimes, Nimes, France.
Antonio Martinez-MonsenyGenetic and Molecular Medicine Department, Hospital Sant Joan de Déu, Barcelona, Spain.
Mariona Vidal-SantacanaDepartment of Ophthalmology, Hospital Sant Joan de Déu, Barcelona, Spain.
Chloé DominiciUniversity Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France.
Cedric GaggioliUniversity Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France.
Nadia GiordanoNeuroscience Institute-CNR, Pisa, Italy.
Matteo CaleoNeuroscience Institute-CNR, Pisa, Italy.
Grant T LiuDivision of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Genomics England Research Consortium
Andrew R WebsterMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Michèle StuderUniversité Côte d'Azur, CNRS, Inserm, iBV, Nice, France.ORCID https://orcid.org/0000-0001-7105-2957
Patrick Yu-Wai-ManMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Moorfields Eye Hospital NHS Foundation Trust · GBCentre National de la Recherche Scientifique · FRGreat Ormond Street Hospital for Children NHS Foundation Trust · GBChildren's Hospital of Philadelphia · USCentre Hospitalier Universitaire de Lille · FRHospital Sant Joan de Déu Barcelona · ESNeuroscience Institute · ITYonsei University · KRHospital of the University of Pennsylvania · USInserm · FRNational University of Singapore · SGNorthwick Park Hospital · GBUniversité de Nîmes · FR
Funding
Medical Research Council G0701386Medical Research Council G1002570Wellcome Trust
Abstract
Pathogenic
Indexed as
BBSOASinherited optic neuropathymouse modelNR2F1optic nerve head anomalies
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
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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.