ArticleCancers2021
Severe Phenotype in Patients with Large Deletions of
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 22 papers.
0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
2.9field-weighted citation impact, top 7% 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
22 citing papers in PubMed, 38 citations in OpenAlex.
- Article
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- Neurofibromin 1 (International journal of molecular sciences · 2026Article
- Refined genotype-phenotype correlations in neurofibromatosis type 1 patients withJournal of medical genetics · 2025Article
- Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1).Acta neuropathologica communications · 2025Review
- Neurofibromatosis type 1 adult surveillance form for Austria.Wiener klinische Wochenschrift · 2025Article
- Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.Biomedicines · 2025Article
- Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.Human genome variation · 2024Article
- NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes.Acta neuropathologica communications · 2024Article
- Specifics of spinal neuropathology in the molecular age.Neuro-oncology advances · 2024Review
- Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.NPJ genomic medicine · 2024Article
- A platform for rapid patient-derived cutaneous neurofibroma organoid establishment and screening.Cell reports methods · 2024Article
- Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29.BMC medical genomics · 2024Article
- Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.BMC medical genomics · 2024Article
- [Gene therapy strategies and prospects for neurofibromatosis type 1].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2024Article
- Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype.Frontiers in genetics · 2024Article
- Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature.International journal of ophthalmology · 2023Article
- Malignant Superficial Mesenchymal Tumors in Children.Cancers · 2022Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
51 authors at 20 institutions in 2 countries.
Laurence PacotService de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.
Dominique VidaudService de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.
Audrey SabbaghUMR 261, Laboratoire MERIT, IRD, Faculté de Pharmacie de Paris, Université de Paris, F-75006 Paris, France.
Ingrid LaurendeauInserm U1016-CNRS UMR8104, Institut Cochin, Université de Paris, CARPEM, F-75014 Paris, France.
Audrey Briand-SuleauService de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.
Audrey CoustierService de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.
Théodora MaillardService de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.
Cécile BarbanceService de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.
Fanny Morice-PicardInserm U1211, Service de Génétique Médicale, CHU de Bordeaux, F-33000 Bordeaux, France.ORCID 0000-0002-4316-916X
Sabine SigaudyDepartment of Medical Genetics, Children's Hospital La Timone, Assistance Publique des Hôpitaux de Marseille, F-13000 Marseille, France.
Olga O GlazunovaCentre de Référence des Anomalies du Développement et Syndromes Malformatifs (UF 2970), CHU Timone, Assistance Publique des Hôpitaux de Marseille, F-13000 Marseille, France.
Lena DamajDepartment of Pediatrics, Competence Center of Inherited Metabolic Disorders, Rennes Hospital, F-35000 Rennes, France.
Valérie LayetConsultations de Génétique, Groupe Hospitalier du Havre, F-76600 Le Havre, France.
Chloé QuelinService de Génétique Clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, F-35000 Rennes, France.
Brigitte Gilbert-DussardierService de Génétique, CHU de Poitiers, F-86000 Poitiers, France.
Frédérique AudicService de Neurologie Pédiatrique, CHU Timone Enfants, F-13000 Marseille, France.
Hélène DollfusCentre de Référence Pour les Affections Rares en Génétique Ophtalmologique, CARGO, Filière SENSGENE, Hôpitaux Universitaires de Strasbourg, F-67000 Strasbourg, France.
Anne-Marie GuerrotService de Génétique Clinique, CHU de Rouen, F-76000 Rouen, France.
James LespinasseService de Génétique Clinique, CH de Chambéry, F-73000 Chambéry, France.
Sophie JuliaService de Génétique Médicale, CHU de Toulouse, Hôpital Purpan, F-31000 Toulouse, France.
Marie-Christine VantyghemEndocrinology, Diabetology, Metabolism and Nutrition Department, Inserm 1190, Lille University Hospital EGID, F-59000 Lille, France.
Magali DrouardDermatology Department, CHU Lille, University of Lille, F-59000 Lille, France.
Marilyn LackmyUnité de Génétique Clinique, Centre de Compétences Maladies Rares Anomalies du Développement, CHRU de Pointe à Pitre, F-97110 Guadeloupe, France.
Bruno LeheupService de Génétique Médicale, Hôpitaux de Brabois, CHRU de Nancy, F-54500 Vandoeuvre-lès-Nancy, France.
Yves AlembikDepartment of Medical Genetics, Strasbourg-Hautepierre Hospital, F-67000 Strasbourg, France.
Alexia LemaireDepartment of Medical Genetics, Strasbourg-Hautepierre Hospital, F-67000 Strasbourg, France.
Patrick NitschkéBioinformatics Platform, Imagine Institute, INSERM UMR 1163, Université de Paris, F-75015 Paris, France.
Florence PetitCHU Lille, Clinique de Génétique, Centre de Référence Anomalies du Développement, F-59000 Lille, France.
Anne Dieux CoeslierCHU Lille, Clinique de Génétique, Centre de Référence Anomalies du Développement, F-59000 Lille, France.
Eugénie MutezLille University, Inserm, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, F-59000 Lille, France.
Alain TaiebDepartment of Dermatology and Pediatric Dermatology, Bordeaux University Hospital, F-33000 Bordeaux, France.ORCID 0000-0002-0928-8608
Mélanie FradinService de Génétique Clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, F-35000 Rennes, France.
Yline CapriDépartement de Génétique, APHP Nord, Hôpital Robert Debré, F-75019 Paris, France.
Hala NasserDépartement de Génétique, APHP Nord, Hôpital Robert Debré, F-75019 Paris, France.
Lyse RuaudDépartement de Génétique, APHP Nord, Hôpital Robert Debré, F-75019 Paris, France.ORCID 0000-0003-4940-5896
Benjamin DauriatDepartment of Cytogenetics and Clinical Genetics, Limoges University Hospital, F-87000 Limoges, France.
Sylvie BourthoumieuService de Cytogénétique et Génétique Médicale, CHU Limoges, F-87000 Limoges, France.
David GenevièveDepartment of Genetics, Arnaud de Villeneuve University Hospital, F-34000 Montpellier, France.
Séverine Audebert-BellangerDépartement de Génétique Médicale et Biologie de la Reproduction, CHU Brest, Hôpital Morvan, F-29200 Brest, France.
Mathilde NizonGenetic Medical Department, CHU Nantes, F-44000 Nantes, France.
Radka StoevaService de Cytogénétique, Centre Hospitalier Universitaire du Mans, F-72000 Le Mans, France.
Geoffroy HickmanDepartment of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, F-75010 Paris, France.
Gaël NicolasDepartment of Genetics, FHU G4 Génomique, Normandie University, UNIROUEN, CHU Rouen, Inserm U1245, F-76000 Rouen, France.ORCID 0000-0001-9391-7800
Juliette Mazereeuw-HautierDépartement de Dermatologie, Centre de Référence des Maladies Rares de la Peau, CHU de Toulouse, F-31000 Toulouse, France.
Arnaud JannicDépartement de Dermatologie, AP-HP and UPEC, Hôpital Henri-Mondor, F-94000 Créteil, France.
Salah FerkalDépartement de Dermatologie, AP-HP and UPEC, Hôpital Henri-Mondor, F-94000 Créteil, France.
Béatrice ParfaitService de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.
Michel VidaudService de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.
Members Of The Nf France Network
Pierre WolkensteinDépartement de Dermatologie, AP-HP and UPEC, Hôpital Henri-Mondor, F-94000 Créteil, France.
Eric PasmantService de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, F-75014 Paris, France.ORCID 0000-0002-1881-8762
Inserm · FRCentre National de la Recherche Scientifique · FRUniversité Paris Cité · FRAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de Rennes · FRUniversité Paris-Est Créteil · FRAssistance Publique Hôpitaux de Marseille · FRCentre Hospitalier Universitaire de Lille · FRCentre Hospitalier Universitaire de Toulouse · FRHôpital d'Hautepierre · FRCentre Hospitalier du Mans · FRCentre Hospitalier Métropole Savoie · FRCentre Hospitalier Régional et Universitaire de Nancy · FRCentre Hospitalier Régional Universitaire de Brest · FRCentre Hospitalier Universitaire de Bordeaux · FRCentre Hospitalier Universitaire de Limoges · FRCentre Hospitalier Universitaire de Nantes · FRCentre Hospitalier Universitaire de Poitiers · FRCentre Hospitalier Universitaire de Rouen · FRCentre Hospitalier Universitaire Pointe-à-Pitre · GP
Funding
No grant is acknowledged in the PubMed record.
Abstract
Complete deletion of the
Indexed as
cardiovascular abnormalitiesdysmorphismgenotype–phenotype correlationlearning disabilitiesmalignant peripheral nerve sheath tumorsMPNSTsneurofibromasneurofibromatosis type 1NF1NF1 deletionNFsskeletal abnormalitiestumor predisposition
Identifiers
What OpenQuestion holds
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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.