Evidence map›Paper›PMID 38002928›Full record

ArticleGenes2023

Novel Loss of Function Variants in

Doriana Misceo, Lokuliyanage Dona Samudita Senaratne, Inger-Lise Mero, Arvind Y M Sundaram, Pål Marius Bjørnstad, Krzysztof Szczałuba, Piotr Gasperowicz, Benjamin Kamien, Bård Nedregaard, Asbjørn Holmgren and 2 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 19% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. 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

12 authors at 3 institutions in 3 countries.

Doriana MisceoDepartment of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.ORCID 0000-0002-6594-5801
Lokuliyanage Dona Samudita SenaratneDepartment of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.
Inger-Lise MeroDepartment of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.
Arvind Y M SundaramDepartment of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.ORCID 0000-0002-3007-7784
Pål Marius BjørnstadDepartment of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.ORCID 0000-0001-6217-7467
Krzysztof SzczałubaDepartment of Medical Genetics, Medical University of Warsaw, Żwirki i Wigury 61, 02-091 Warszawa, Poland.
Piotr GasperowiczDepartment of Medical Genetics, Medical University of Warsaw, Żwirki i Wigury 61, 02-091 Warszawa, Poland.ORCID 0000-0002-1037-7974
Benjamin KamienGenetic Services of Western Australia, King Edward Memorial Hospital, 374 Bagot Rd, Subiaco, WA 6008, Australia.
Bård NedregaardDepartment of Radiology and Nuclear Medicine, Section of Neuroradiology, Oslo University Hospital, 0450 Oslo, Norway.
Asbjørn HolmgrenDepartment of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.ORCID 0000-0003-1434-0957
Petter StrømmeFaculty of Medicine, University of Oslo, 0450 Oslo, Norway.ORCID 0000-0003-3421-8131
Eirik FrengenDepartment of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.ORCID 0000-0002-8387-2247
Oslo University Hospital · NOMedical University of Warsaw · PLKing Edward Memorial Hospital · AU

Funding

Anders Jahres fond til vitenskapens fremme NANorwegian National Advisory Unit on Rare Disorders NAQuota scheme of Norwegian State Educational Loan Fund NA
6 · The paper itself

Abstract

Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients with Strømme syndrome and, using high-throughput sequencing approaches, we identified novel pathogenic variants in

Indexed as

Intestinal AtresiaMicrocephalyAnterior Eye SegmentChildChromosomal Proteins, Non-HistoneEye AbnormalitiesFemaleHumansInfantMaleMicrofilament ProteinsMutationcentromere protein FChromosomal Proteins, Non-HistoneMicrofilament ProteinsCENPFciliopathyintestinal atresiaLR-WGSStrømme syndromestructural variant

Identifiers

PMID38002928
PMCPMC10671177
OpenAlexW4387908987

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.