ArticleCancers2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Open access · goldAbstract read
In one paragraph
Article in Cancers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 5% 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
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Immunotherapy checkpoint inhibitor-combination therapy versus chemotherapy alone among Chinese population in cholangiocarcinoma treatment: a systematic review and meta-analysis.European journal of clinical pharmacology · 2026Pooled it
- A coordinated shift toward a macrocytic and hypochromic erythrocyte phenotype in adults with neurofibromatosis type 1.JID innovations : skin science from molecules to population health · 2026Article
- Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.World journal of pediatrics : WJP · 2026Article
- Article
- Café-au-lait macules in a cohort of Greek children genetically diagnosed with neurofibromatosis type 1: Prognostic significance beyond their diagnostic relevance.Dermatology online journal · 2026Article
- Systemic skewing of peripheral blood leukocyte composition in neurofibromatosis type 1.Frontiers in immunology · 2026Article
- Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.Einstein (Sao Paulo, Brazil) · 2026Article
- Endovascular management of craniospinal arteriovenous fistula causing steal syndrome in neurofibromatosis type 1: a case report.AME case reports · 2026Article
- Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.European journal of pediatrics · 2025Article
- Article
- Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.Scientific reports · 2025Article
- Article
- Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.Biomedicines · 2025Article
- A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.Frontiers in genetics · 2025Article
- Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.Human genome variation · 2024Article
- A Comprehensive Overview of NF1 Mutations in Iranian Patients.Neuromolecular medicine · 2024Article
- Magnetic Resonance Imaging of Central Nervous System Manifestations of Type 1 Neurofibromatosis: Pictorial Review and Retrospective Study of Their Frequency in a Cohort of Patients.Journal of clinical medicine · 2024Article
- Surgical revascularization as a procedure to prevent neurological complications in children with moyamoya syndrome associated with neurofibromatosis I: a single institution case series.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Pediatric Patient With Neurofibromatosis I Presenting With Perceptual Disturbances and a Suicide Attempt.Cureus · 2024Article
- NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas.Human genome variation · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
28 authors at 2 institutions in 1 country.
Marcello ScalaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.ORCID 0000-0003-2194-7239
Irene SchiavettiDepartment of Health Sciences, Section of Biostatistics, University of Genova, 16132 Genoa, Italy.ORCID 0000-0002-5460-2977
Francesca MadiaUOC Genetica Medica, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.ORCID 0000-0002-7807-1322
Cristina ChelleriDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.ORCID 0000-0003-2473-5282
Gianluca PiccoloPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.ORCID 0000-0003-2815-6288
Andrea AccogliDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.
Antonella RivaDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.ORCID 0000-0001-9152-5571
Vincenzo SalpietroDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.
Renata BocciardiDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.ORCID 0000-0001-8415-3802
Guido MorcaldiPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Marco Di DucaUOC Genetica Medica, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Francesco CaroliUOC Genetica Medica, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.ORCID 0000-0003-1828-6900
Antonio VerricoNeuro-Oncology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.ORCID 0000-0002-4648-4384
Claudia MilanaccioNeuro-Oncology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Gianmaria ViglizzoUO Dermatologia, IRCCS G. Gaslini, 16147 Genoa, Italy.
Monica TraversoPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Simona BaldassariUOC Genetica Medica, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.ORCID 0000-0002-5304-3608
Paolo ScudieriDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.
Michele IacominoUOC Genetica Medica, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Gianluca PiatelliNeurosurgery Department, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Carlo MinettiDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.ORCID 0000-0002-6065-1476
Maria Luisa GarrèNeuro-Oncology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Patrizia De MarcoUOC Genetica Medica, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Maria Cristina DianaPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.ORCID 0000-0002-3594-068X
Valeria CapraUOC Genetica Medica, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.
Marco PavanelloNeurosurgery Department, IRCCS Istituto Giannina Gaslini, University of Genoa, 16147 Genoa, Italy.ORCID 0000-0001-7312-0204
Federico ZaraDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.
Istituto Giannina Gaslini · ITUniversity of Genoa · IT
Funding
Italian Ministry of Health. 'Ricerca Corrente Ministeriale 2019'
Abstract
Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in
Indexed as
brain tumorcDNA sequencinggenotype–phenotype correlationsMLPAneurofibromatosis type INF1NGSsplicingstop-gain
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.