Evidence map›Paper›PMID 39669239›Full record

ArticleGenetics in medicine open2023

Mosaic variants detectable in blood extend the clinicogenetic spectrum of

Timothy E Green, Mark F Bennett, Ilka Immisch, Jeremy L Freeman, Karl Martin Klein, John F Kerrigan, Lata Vadlamudi, Erin L Heinzen, Ingrid E Scheffer, A Simon Harvey and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 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
–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

1 citing paper in PubMed.

  1. 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

13 authors.

Timothy E GreenEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Mark F BennettEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Ilka ImmischEpilepsy Center Hessen and Department of Neurology, Philipps University Marburg, Marburg (Lahn), Germany.
Jeremy L FreemanDepartment of Neurology, The Royal Children's Hospital, Parkville, VIC, Australia.
Karl Martin KleinDepartments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, AB, Canada.
John F KerriganDivision of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ.
Lata VadlamudiUniversity of Queensland Centre for Clinical Research, University of Queensland, Brisbane, QLD, Australia.
Erin L HeinzenEshelman School of Pharmacy, Division of Pharmacotherapy and Experimental Therapeutics, Department of Genetics, University of North Carolina, Chapel Hill, NC.
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
A Simon HarveyDepartment of Neurology, The Royal Children's Hospital, Parkville, VIC, Australia.
Felix RosenowEpilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe University and University Hospital Frankfurt, Frankfurt am Main, Germany.
Michael S HildebrandEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, VIC, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Hypothalamic hamartoma (HH) can be syndromic (eg, Pallister-Hall syndrome [PHS], HH, and mesoaxial polydactyly) or nonsyndromic. Most PHS cases have germline variants in Methods: High-depth exome sequencing was performed on leukocyte-derived DNA in 1 unsolved PHS and 25 nonsyndromic HH cases. We searched for mosaic variants in Results: The PHS case had a Conclusion:

Indexed as

GLI3 geneHypothalamic hamartomaMosaicismPallister-Hall syndromePolydactyly

Identifiers

PMID39669239
PMCPMC11613544

What OpenQuestion holds

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Registered trials

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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.