Evidence map›Paper›PMID 35044816›Full record

ArticleScience advances2022

Biallelic

Sara Carvalhal, Ingrid Bader, Martin A Rooimans, Anneke B Oostra, Jesper A Balk, René G Feichtinger, Christine Beichler, Michael R Speicher, Johanna M van Hagen, Quinten Waisfisz and 7 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Science advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
3.9field-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

25 citing papers in PubMed, 36 citations in OpenAlex.

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  15. The two sides of chromosomal instability: drivers and brakes in cancer.Signal transduction and targeted therapy · 2024
    Review
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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

17 authors at 7 institutions in 3 countries.

Sara CarvalhalInstituto Gulbenkian de Ciência, R. Q.ta Grande 6, 2780-156 Oeiras, Portugal.ORCID 0000-0002-6004-3286
Ingrid BaderUnit of Clinical Genetics, Paracelsus Medical University, Salzburg, Austria.ORCID 0000-0003-0001-8799
Martin A RooimansCancer Center Amsterdam, Amsterdam University Medical Centers, Oncogenetics Section, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands.
Anneke B OostraCancer Center Amsterdam, Amsterdam University Medical Centers, Oncogenetics Section, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands.
Jesper A BalkCancer Center Amsterdam, Amsterdam University Medical Centers, Oncogenetics Section, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands.
René G FeichtingerDepartment of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.ORCID 0000-0002-4215-8258
Christine BeichlerInstitute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria.
Michael R SpeicherInstitute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, Graz, Austria.ORCID 0000-0003-0105-955X
Johanna M van HagenDepartment of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands.
Quinten WaisfiszDepartment of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands.
Mieke van HaelstDepartment of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands.
Martijn BruijnNorthwest Clinics, Wilhelminalaan 12, 1815 JD Alkmaar, Netherlands.
Alexandra TavaresInstituto Gulbenkian de Ciência, R. Q.ta Grande 6, 2780-156 Oeiras, Portugal.ORCID 0000-0002-5332-3386
Johannes A MayrDepartment of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.ORCID 0000-0001-6970-336X
Rob M F WolthuisCancer Center Amsterdam, Amsterdam University Medical Centers, Oncogenetics Section, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands.ORCID 0000-0002-3109-1588
Raquel A OliveiraInstituto Gulbenkian de Ciência, R. Q.ta Grande 6, 2780-156 Oeiras, Portugal.ORCID 0000-0002-8293-8603
Job de LangeCancer Center Amsterdam, Amsterdam University Medical Centers, Oncogenetics Section, De Boelelaan 1118, 1081 HV Amsterdam, Netherlands.ORCID 0000-0002-9002-8829
Amsterdam University Medical Centers · NLParacelsus Medical University · ATVrije Universiteit Amsterdam · NLInstituto Gulbenkian de Ciência · PTMedical University of Graz · ATAlgarve Biomedical Center · PTWilhelmina Children's Hospital · NL

Funding

Austrian Science Fund FWF I 4695
6 · The paper itself

Abstract

Budding uninhibited by benzimidazoles (BUB1) contributes to multiple mitotic processes. Here, we describe the first two patients with biallelic

Indexed as

Chromosome SegregationMicrocephalyAneuploidyHumansMutationProtein Serine-Threonine KinasesBUB1 protein, humanProtein Serine-Threonine Kinases

Identifiers

PMID35044816
PMCPMC8769543
OpenAlexW4205997721

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.