Evidence map›Paper›PMID 39062605›Full record

ReviewGenes2024

De Novo Pathogenic Variant in

Nenad Bukvic, Marta De Rinaldis, Massimiliano Chetta, Antonio Trabacca, Maria Teresa Bassi, René Massimiliano Marsano, Lenka Holoubkova, Maria Rivieccio, Maria Oro, Nicoletta Resta and 3 more

Abstract readCase ReportsReview
In one paragraph

Review in Genes, 2024. 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. Article
  4. Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.American journal of medical genetics. Part A · 2025
    Article
  5. 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.

Nenad BukvicMedical Genetic, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0002-9235-8987
Marta De RinaldisUnit for Severe Disabilities in Developmental Age and Young Adults, Associazione "La Nostra Famiglia"-IRCCS "E. Medea", Scientific Hospital for Neurorehabilitation, Piazza A. Di Summa, 72100 Brindisi, Italy.
Massimiliano ChettaMedical Genetics Laboratory, A.O.R.N. Cardarelli, Building Y, 80127 Naples, Italy.ORCID 0000-0001-6300-0604
Antonio TrabaccaScientific Direction, Scientific Institute IRCCS Eugenio Medea, Via D. L. Monza 20, Bosisio Parini, 23842 Lecco, Italy.ORCID 0000-0003-3165-0105
Maria Teresa BassiLaboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Via D. L. Monza 20, Bosisio Parini, 23842 Lecco, Italy.ORCID 0000-0002-8236-1197
René Massimiliano MarsanoDepartment of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, 70125 Bari, Italy.ORCID 0000-0001-8450-1010
Lenka HoloubkovaReStart-Professional Practice of Occupational Therapy, Via di Vittorio, 76125 Trani, Italy.
Maria RivieccioMedical Genetics Laboratory, A.O.R.N. Cardarelli, Building Y, 80127 Naples, Italy.
Maria OroMedical Genetics Laboratory, A.O.R.N. Cardarelli, Building Y, 80127 Naples, Italy.
Nicoletta RestaMedical Genetic, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro, 70124 Bari, Italy.ORCID 0000-0001-8640-5532
Jennifer KerkhofVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 3K7, Canada.ORCID 0000-0003-1245-6606
Bekim SadikovicVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 3K7, Canada.
Luigi ViggianoDepartment of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, 70125 Bari, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Cytoskeletal ProteinsIntellectual DisabilityTranscription FactorsCodon, NonsenseHumansPhenotypeSyndromeAUTS2 protein, humanCodon, NonsenseCytoskeletal ProteinsTranscription FactorsFBRSL1 and AUTS2neurodevelopmentpolycomb complex

Identifiers

PMID39062605
PMCPMC11275389

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.