Evidence map›Paper›PMID 42358053›Full record

ArticleClinical genetics2026

Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia.

Mohammed Almannai, Ahmed A Alhanshani, Khadijah Bakur, Fowzan S Alkuraya

Abstract readCase Reports
In one paragraph

Article in Clinical genetics, 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

4 authors.

Mohammed AlmannaiGenetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.ORCID https://orcid.org/0000-0001-7098-9879
Ahmed A AlhanshaniDepartment of Pediatrics Hematology and Oncology, King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Khadijah BakurLifera Omics, Riyadh, Saudi Arabia.
Fowzan S AlkurayaLifera Omics, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Severe congenital neutropenia (SCN) is a genetically heterogeneous condition. Reaching a molecular diagnosis is important for management, prognostication, and risk assessment. We present the first confirmatory report of a previously proposed SCN due to a homozygous pathogenic loss-of-function variant in CSF3. Our report supports this new gene-disease relationship in humans.

Indexed as

Congenital Bone Marrow Failure SyndromesGenes, RecessiveGenetic Predisposition to DiseaseMyeloblastinNeutropeniaFemaleGenetic Association StudiesHomozygoteHumansMaleMutationMyeloblastinCSF3neutropeniarecessive

Identifiers

PMID42358053
PMCPMC13533872

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.