Evidence map›Paper›PMID 34230207›Full record

ArticleNeurology2021

Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.

Chetan Bettegowda, Meena Upadhayaya, D Gareth Evans, AeRang Kim, Dimitrios Mathios, Clemens O Hanemann, REiNS International Collaboration

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 2 pooled it
4.6field-weighted citation impact, top 4% of its field
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.

3 · Its place in the literature

Who cites it

43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.

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  14. Neurofibromatosis Type 1 : A General Review.Journal of Korean Neurosurgical Society · 2025
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4 · The record

Corrections and comments

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

7 authors at 1 institution in 2 countries.

Chetan BettegowdaFrom Johns Hopkins University School of Medicine (C.B., D.M.), Baltimore, MD; Division Cancer and Genetics (M.U.), Cardiff University; Genomic Medicine (D.G.E.), University of Manchester, UK; Center for Cancer and Blood Disorders (A.K.), Children's National Hospital, Washington, DC; and Faculty of Health, Medicine, Dentistry and Health Sciences (C.O.H.), Institute of Translational and Stratified Medicine, University of Plymouth, UK.
Meena UpadhayayaFrom Johns Hopkins University School of Medicine (C.B., D.M.), Baltimore, MD; Division Cancer and Genetics (M.U.), Cardiff University; Genomic Medicine (D.G.E.), University of Manchester, UK; Center for Cancer and Blood Disorders (A.K.), Children's National Hospital, Washington, DC; and Faculty of Health, Medicine, Dentistry and Health Sciences (C.O.H.), Institute of Translational and Stratified Medicine, University of Plymouth, UK.
D Gareth EvansFrom Johns Hopkins University School of Medicine (C.B., D.M.), Baltimore, MD; Division Cancer and Genetics (M.U.), Cardiff University; Genomic Medicine (D.G.E.), University of Manchester, UK; Center for Cancer and Blood Disorders (A.K.), Children's National Hospital, Washington, DC; and Faculty of Health, Medicine, Dentistry and Health Sciences (C.O.H.), Institute of Translational and Stratified Medicine, University of Plymouth, UK.
AeRang KimFrom Johns Hopkins University School of Medicine (C.B., D.M.), Baltimore, MD; Division Cancer and Genetics (M.U.), Cardiff University; Genomic Medicine (D.G.E.), University of Manchester, UK; Center for Cancer and Blood Disorders (A.K.), Children's National Hospital, Washington, DC; and Faculty of Health, Medicine, Dentistry and Health Sciences (C.O.H.), Institute of Translational and Stratified Medicine, University of Plymouth, UK.ORCID 0000-0002-7813-5568
Dimitrios MathiosFrom Johns Hopkins University School of Medicine (C.B., D.M.), Baltimore, MD; Division Cancer and Genetics (M.U.), Cardiff University; Genomic Medicine (D.G.E.), University of Manchester, UK; Center for Cancer and Blood Disorders (A.K.), Children's National Hospital, Washington, DC; and Faculty of Health, Medicine, Dentistry and Health Sciences (C.O.H.), Institute of Translational and Stratified Medicine, University of Plymouth, UK.
Clemens O HanemannFrom Johns Hopkins University School of Medicine (C.B., D.M.), Baltimore, MD; Division Cancer and Genetics (M.U.), Cardiff University; Genomic Medicine (D.G.E.), University of Manchester, UK; Center for Cancer and Blood Disorders (A.K.), Children's National Hospital, Washington, DC; and Faculty of Health, Medicine, Dentistry and Health Sciences (C.O.H.), Institute of Translational and Stratified Medicine, University of Plymouth, UK. Oliver.Hanemann@plymouth.ac.uk.ORCID 0000-0002-1951-1025
REiNS International Collaboration
Johns Hopkins University · US

Funding

Interrogating malignant gliomas using released tumor DNA in cerebrospinal fluidR37CA230400 · NCI · JOHNS HOPKINS UNIVERSITY · PI BETTEGOWDA, CHETAN · 2018 to 2024
$2.6M
(PQ 6) Exploiting Frequent Alterations in the PRC2 Complex to Distinguish Benign Neurofibromas from Malignant Peripheral Nerve Sheath TumorsR21CA208723 · NCI · JOHNS HOPKINS UNIVERSITY · PI BETTEGOWDA, CHETAN · 2016 to 2017
$391k
Department of Health IS-BRC-1215-20007NCI NIH HHS R21 CA208723NCI NIH HHS R37 CA230400
6 · The paper itself

Abstract

objectiveBecause clinically validated biomarkers for neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) have not been identified, we aimed to determine whether genotype-phenotype correlations are useful in clinical trials in NF1 and NF2.

methodsThe Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Biomarker Group first performed a systematic literature search and reviewed existing data on genetic biomarkers in NF1 and NF2 and in in malignant peripheral nerve sheath tumors. The group then met during a series of consensus meetings to develop a joint report.

resultsWe found that in NF2, the genetic severity score is clearly of potential clinical use. In NF1, despite over 3,000 constitutional variants having been described in the

conclusionWe summarized emerging clinical use of genotype-phenotype correlations in neurofibromatosis.

Indexed as

Genetic Association StudiesBiomarkersGenes, Neurofibromatosis 1HumansNeurilemmomaNeurofibromatosesNeurofibromatosis 1Neurofibromatosis 2Skin NeoplasmsBiomarkers

Identifiers

PMID34230207
PMCPMC8594005
OpenAlexW3163833555

What Socratic holds

Textmetadata
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 Socratic graph.