Evidence map›Paper›PMID 38259611›Full record

ArticleFrontiers in genetics2023

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.

Abderrahim Marouane, Kornelia Neveling, A Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A Koolen, Annet Simons, Richard Rodenburg and 15 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
4.4field-weighted citation impact, top 6% 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

9 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
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  8. De NovoInternational journal of molecular sciences · 2025
    Review
  9. 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

25 authors at 3 institutions in 1 country.

Abderrahim Marouane *Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Kornelia Neveling *Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
A Chantal DedenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Simone van den HeuvelDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Dimitra ZafeiropoulouDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Steven CasteleinDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Frank van de VeerdonkDepartment of Internal Medicine, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, Netherlands.
David A KoolenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Annet SimonsDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Richard RodenburgDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Dineke WestraResearch Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, Netherlands.
Arjen R MensenkampDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Nicole de LeeuwDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Marjolijn LigtenbergDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Rene MatthijsseDepartment of Neonatology, Radboud University Medical Center, Radboud Institute for Health Sciences, Amalia Children's Hospital, Nijmegen, Netherlands.
Rolph PfundtDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Erik Jan KamsteegDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Han G BrunnerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Christian GilissenDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Ilse FeenstraDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Willem P de BoodeDepartment of Neonatology, Radboud University Medical Center, Radboud Institute for Health Sciences, Amalia Children's Hospital, Nijmegen, Netherlands.
Helger G YntemaDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Wendy A G van Zelst-StamsDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Marcel Nelen *Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Lisenka E L M Vissers *Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Radboud University Medical Center · NLRadboud University Nijmegen · NLRadboud Institute for Molecular Life Sciences · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

clinical outcomediagnostic workflowdiagnostic yieldrapid exome sequencingturnaround time

Identifiers

PMID38259611
PMCPMC10800954
OpenAlexW4390666701

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.