Evidence map›Paper›PMID 42285891›Full record

ArticleBritish journal of haematology2026

From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort.

Alessandra Giannella, Fabrizio Vianello, Simone Zoletto, Arianna Magrini, Ilaria Gianesello, Gianni Binotto, Nicolo' Danesin, Jessica Ceccato, Giulia Gualtiero, Maria Piazza and 12 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in British journal of haematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

22 authors.

Alessandra GiannellaDepartment of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Fabrizio VianelloHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.ORCID https://orcid.org/0000-0002-7174-4651
Simone ZolettoHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Arianna MagriniDepartment of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Ilaria GianeselloHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Gianni BinottoHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Nicolo' DanesinHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Jessica CeccatoHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Giulia GualtieroHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Maria PiazzaHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Samuela CarraroRare Diseases Referral Center, Internal Medicine 1, Ca' Foncello Hospital, AULSS2 Marca Trevigiana, Treviso, Italy.
Valeria CarabottaHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Francesco CinettoDepartment of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Alessandro CelliniHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Marco CarraroHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Carmela GurrieriHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Laura PavanHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.ORCID https://orcid.org/0009-0005-2218-7333
Francesco PiazzaHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.ORCID https://orcid.org/0000-0002-2831-623X
Andrea VisentinHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Walter AgenoDepartment of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.ORCID https://orcid.org/0000-0002-1922-8879
Livio TrentinHematology Unit, Department of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.
Giulio CeolottoDepartment of Medicine DIMED, University of Padua School of Medicine, Padua, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Targeted next-generation sequencing combined with a structured interpretative framework integrating gene-disease validity, population data, computational predictions, ACMG criteria and structural modelling enabled prioritisation of rare variants in idiopathic erythrocytosis, highlighting the genetic heterogeneity and biological complexity underlying this condition.

Indexed as

Genetic VariationPolycythemiaCohort StudiesHemoglobinsHigh-Throughput Nucleotide SequencingHumansHemoglobinshaemoglobin variantsidiopathic erythrocytosisnext‐generation sequencingoxygen sensing pathwayvariant prioritisation

Identifiers

PMID42285891
PMCPMC13461990

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.