Evidence map›Paper›PMID 37577973›Full record

ArticlePlatelets2023

An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in

Max Frenkel, April Hall, M Stephen Meyn, Carol A Diamond

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

Article in Platelets, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

4 authors at 2 institutions in 1 country.

Max FrenkelCellular and Molecular Biology Graduate Program, University of Wisconsin, Madison, WI, USA.
April HallCenter for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
M Stephen MeynCenter for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
Carol A DiamondDivision of Hematology, Oncology and Bone Marrow Transplant, Department of Pediatrics, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA.
University of Wisconsin–Madison · USUniversity of Wisconsin Carbone Cancer Center · US

Funding

Integrated Training For Physician-ScientistsT32GM140935 · NIGMS · UNIVERSITY OF WISCONSIN-MADISON · PI Anna Huttenlocher, Jeniel E Nett · 2021 to 2026
$6.5M
NIGMS NIH HHS T32 GM140935
6 · The paper itself

Abstract

Although thrombocytopenia in neonatal intensive care patients is rarely due to inherited disorders, the number of genetic variants implicated in platelet defects has grown dramatically with increasing genome-wide sequencing. Here we describe a case of severe, oligogenic neonatal thrombocytopenia and reinterpret a reportedly benign mutation that is likely pathogenic. Despite this patient's synonymous mutation (

Indexed as

Thrombocytopenia, Neonatal AlloimmuneBlood PlateletsFemaleHumansMegakaryocytesMutationProto-Oncogene ProteinsRepressor ProteinsGFI1B protein, humanProto-Oncogene ProteinsRepressor ProteinsCase reportGFI1BoligogenicPMM2 congenital disorder of glycosylationthrombocytopenia

Identifiers

PMID37577973
PMCPMC10653983
OpenAlexW4385798542

What OpenQuestion holds

Textmetadata
LicenceTDM
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.