Evidence map›Paper›PMID 40225170›Full record

ArticleHuman mutation2023

Targeted Genomic Sequencing of

Hannah D West, Mark Nellist, Rutger W W Brouwer, Mirjam C G N van den Hout-van Vroonhoven, Luiz Gustavo Dufner de Almeida, Femke Hendriks, Peter Elfferich, Meera Raja, Peter Giles, Rosa M Alfano and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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. Article
  3. Review
  4. Review
  5. 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

21 authors.

Hannah D WestInstitute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK.
Mark NellistDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.ORCID 0000-0003-0949-1566
Rutger W W BrouwerCenter for Biomics and Department of Cell Biology, Erasmus Medical Center, Rotterdam, Netherlands.
Mirjam C G N van den Hout-van VroonhovenCenter for Biomics and Department of Cell Biology, Erasmus Medical Center, Rotterdam, Netherlands.
Luiz Gustavo Dufner de AlmeidaDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Femke HendriksDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Peter ElfferichDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Meera RajaInstitute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK.
Peter GilesThe Wales Gene Park, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK.
Rosa M AlfanoMedical Genetics, ASST Santi Paolo e Carlo, Ospedale San Paolo, Milan, Italy.
Angela PeronDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Yves SznajerCenter for Human Genetics, Cliniques Universitaires Saint-Luc, UC Louvain, Brussels, Belgium.
Liesbeth De WaeleDepartment of Pediatrics and Child Neurology, University Hospital Leuven, Leuven, Belgium.
Anna JansenDepartment of Pediatrics, Pediatric Neurology Unit, UZ Brussel, Brussels, Belgium.
Marije KoopmansDepartment of Clinical Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Anneke KievitDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
Laura S FarachDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA.
Hope NorthrupDepartment of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, Texas, USA.
Julian R SampsonInstitute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK.
Laura E ThomasInstitute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK.ORCID 0000-0002-8621-5285
Wilfred F J van IJckenCenter for Biomics and Department of Cell Biology, Erasmus Medical Center, Rotterdam, Netherlands.ORCID 0000-0002-0421-8301

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tuberous sclerosis complex (TSC) is caused by inactivating variants in

Indexed as

Tuberous SclerosisTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinAdolescentAdultChildFemaleGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenomicsHigh-Throughput Nucleotide SequencingHumansMaleMosaicismMutationTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 Protein

Identifiers

PMID40225170
PMCPMC11918493

What OpenQuestion holds

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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.