Evidence map›Paper›PMID 32637631›Full record

ArticleNeurology. Genetics2020

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.

Ying Hong, Annette Keylock, Barbara Jensen, Thomas S Jacques, Olumide Ogunbiyi, Ebun Omoyinmi, Dawn Saunders, Andrew A Mallick, Madeleine Tooley, Ruth Newbury-Ecob and 5 more

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

Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

3 citing papers in PubMed, 9 citations in OpenAlex.

  1. Cardiovascular aspects of Noonan syndrome and related disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025
    Article
  2. Article
  3. Review
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

15 authors at 1 institution in 1 country.

Ying HongUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Annette KeylockUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Barbara JensenUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Thomas S JacquesUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Olumide OgunbiyiUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Ebun OmoyinmiUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Dawn SaundersUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Andrew A MallickUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.ORCID 0000-0002-5882-8076
Madeleine TooleyUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Ruth Newbury-EcobUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Julia RankinUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Hywel J WilliamsUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Vijeya GanesanUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Paul A BroganUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Despina EleftheriouUCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.
Royal Devon & Exeter NHS Foundation Trust · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo report a series of patients with cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma (

methodsWe performed whole-exome sequencing in 11 separate families referred to Great Ormond Street Hospital, London, with suspected genetic cause for clinical presentation with severe progressive cerebral arteriopathy.

resultsWe identified heterozygous variants in the

conclusionsWe provide a possible mechanism for the arteriopathy associated with heterozygous

Identifiers

PMID32637631
PMCPMC7323481
OpenAlexW3035038393

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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.