Evidence map›Paper›PMID 40350252›Full record

GuidelineJournal of medical genetics2025

UK clinical practice guidelines for the management of patients with constitutional

Olga Tsoulaki, D Gareth Evans, Khushboo Sinha, Neil Rajan, Farrah Bakr, Helen Hatcher, Andrea Napolitano, Elena Finn, Sunil Iyengar, Aslam Sohaib and 7 more

Erratum issuedAbstract readPractice Guideline
PubMed Full text at PMC Publisher
In one paragraph

Guideline in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. GermlineGenetics in medicine open · 2026
    Article
  4. Review
  5. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Olga TsoulakiSt George's University of London, London, UK.
D Gareth EvansManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Khushboo SinhaSt John's Institute of Dermatology, Guy's and St Thomas' Hospitals NHS Trust, London, UK.
Neil RajanTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
Farrah BakrSt John's Institute of Dermatology, Guy's and St Thomas' Hospitals NHS Trust, London, UK.
Helen HatcherAddenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Andrea NapolitanoSarcoma Unit, The Royal Marsden NHS Foundation Trust, London, UK.
Elena FinnEarly Diagnosis and Detection Centre, Royal Marsden Hospital NHS Trust, London, England, UK.
Sunil IyengarDepartment of Haematology, The Royal Marsden NHS Foundation Trust, London, UK.
Aslam SohaibDepartment of Radiology, Royal Marsden Hospital NHS Trust, London, UK.
Timothy J SadlerDepartment of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Claire FordeManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.ORCID 0000-0001-8035-4471
Emma Roisin WoodwardManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Terri P McVeighCancer Genetics Unit, Royal Marsden Hospital NHS Trust, London, UK.
Marc TischkowitzDepartment of Medical Genetics, NIHR Cambridge Biomedical Research Centre, Cambridge, Cambridgeshire, UK.
Fiona LallooManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
Helen HansonRoyal Devon University Healthcare NHS Foundation Trust, Exeter, UK h.hanson@exeter.ac.uk.ORCID 0000-0002-3303-8713

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Constitutional or germline pathogenic variants (GPVs) in

Indexed as

Genetic Predisposition to DiseaseNeoplasmsTelomere-Binding ProteinsDisease ManagementGenetic TestingGerm-Line MutationHumansMelanomaShelterin ComplexUnited KingdomPOT1 protein, humanShelterin ComplexTelomere-Binding ProteinsGenetic Predisposition to DiseaseGerm-Line Mutation

Identifiers

PMID40350252
PMCPMC12418547

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.