Evidence map›Paper›PMID 33884299›Full record

ArticleNeurology. Genetics2021

Ataxia-Pancytopenia Syndrome due to a de Novo

Josh King-Robson, Joseph Marshall, Frances Smith, Leanne Willoughby, Sahar Mansour, Laszlo Sztriha

Open access · goldAbstract read
In one paragraph

Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 39% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Article
  6. SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
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

6 authors at 3 institutions in 2 countries.

Josh King-RobsonNeurology Department (J.K.-R.), King's College Hospital; Neurology Department (J.M.), King's College Hospital; Molecular Pathology (F.S.), Viapath at Kings College Hospital; South East Genomic Laboratory Hub (L.W.), Guy's & St Thomas' NHS Foundation Trust; SW Thames Regional Genetics Service (S.M.), St George's University of London; and Neurology Department (L.S.), King's College Hospital, London, United Kingdom.
Joseph MarshallNeurology Department (J.K.-R.), King's College Hospital; Neurology Department (J.M.), King's College Hospital; Molecular Pathology (F.S.), Viapath at Kings College Hospital; South East Genomic Laboratory Hub (L.W.), Guy's & St Thomas' NHS Foundation Trust; SW Thames Regional Genetics Service (S.M.), St George's University of London; and Neurology Department (L.S.), King's College Hospital, London, United Kingdom.
Frances SmithNeurology Department (J.K.-R.), King's College Hospital; Neurology Department (J.M.), King's College Hospital; Molecular Pathology (F.S.), Viapath at Kings College Hospital; South East Genomic Laboratory Hub (L.W.), Guy's & St Thomas' NHS Foundation Trust; SW Thames Regional Genetics Service (S.M.), St George's University of London; and Neurology Department (L.S.), King's College Hospital, London, United Kingdom.
Leanne WilloughbyNeurology Department (J.K.-R.), King's College Hospital; Neurology Department (J.M.), King's College Hospital; Molecular Pathology (F.S.), Viapath at Kings College Hospital; South East Genomic Laboratory Hub (L.W.), Guy's & St Thomas' NHS Foundation Trust; SW Thames Regional Genetics Service (S.M.), St George's University of London; and Neurology Department (L.S.), King's College Hospital, London, United Kingdom.
Sahar MansourNeurology Department (J.K.-R.), King's College Hospital; Neurology Department (J.M.), King's College Hospital; Molecular Pathology (F.S.), Viapath at Kings College Hospital; South East Genomic Laboratory Hub (L.W.), Guy's & St Thomas' NHS Foundation Trust; SW Thames Regional Genetics Service (S.M.), St George's University of London; and Neurology Department (L.S.), King's College Hospital, London, United Kingdom.
Laszlo SztrihaNeurology Department (J.K.-R.), King's College Hospital; Neurology Department (J.M.), King's College Hospital; Molecular Pathology (F.S.), Viapath at Kings College Hospital; South East Genomic Laboratory Hub (L.W.), Guy's & St Thomas' NHS Foundation Trust; SW Thames Regional Genetics Service (S.M.), St George's University of London; and Neurology Department (L.S.), King's College Hospital, London, United Kingdom.
St George's, University of London · GBKing's College Hospital · GBKing's College - North Carolina · US

Funding

Wellcome Trust
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID33884299
PMCPMC8054956
OpenAlexW3138232194

What OpenQuestion 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 OpenQuestion graph.