Evidence map›Paper›PMID 39766900›Full record

ArticleGenes2024

Expanding the Genotypic and Phenotypic Spectrum of

Tatiana Kyian, Artem Borovikov, Inga Anisimova, Oksana Ryzhkova, Maria Bulakh, Elizabeth Bragina, Maria Avakyan, Anna Demchenko, Victoria Zabnenkova, Victor Kovalev and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. 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
–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

2 citing papers in PubMed.

  1. Article
  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

13 authors.

Tatiana KyianResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Artem BorovikovResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0000-0001-5871-8005
Inga AnisimovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Oksana RyzhkovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0000-0003-1285-9093
Maria BulakhResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Elizabeth BraginaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Maria AvakyanResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0000-0002-9863-4911
Anna DemchenkoResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0000-0002-4460-7627
Victoria ZabnenkovaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Victor KovalevSaint Petersburg State Budgetary Healthcare Institution "Children's City Hospital of St. Olga", 2 Zemledelcheskaya St., 194146 Saint-Petersburg, Russia.
Artem BukhoninResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0009-0006-6612-6695
Elena KondratyevaResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.ORCID 0000-0001-6395-0407
Sergey KutsevResearch Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.

Funding

Ministry of Science and Higher Education of the Russian Federation № 075-15-2021-1061, RF 193021X0029
6 · The paper itself

Abstract

introductionPathogenic variants in the

methodsTo investigate the genetic and phenotypic characteristics of the patients, we performed clinical exome sequencing, family-based genetic analysis, X-inactivation studies, electron microscopy, and detailed clinical assessments.

resultsThree patients from unrelated families carrying loss-of-function variants in the

conclusionsThis study contributes to the growing body of evidence on the expanding phenotypic spectrum of

Indexed as

PhenotypeArrhythmias, CardiacExome SequencingFemaleGenetic Diseases, X-LinkedGenotypeGigantismHeart Defects, CongenitalHeterozygoteHumansIntellectual DisabilityMaleOrofaciodigital SyndromesPedigreeProteinsOFD1 protein, humanProteinsciliopathyelectron microscopyhigh-speed video microscopyOFD1oro-facio-digital syndrome type 1primary ciliary dyskinesiasequencingSimpson–Golabi–Behmel syndrome type 2

Identifiers

PMID39766900
PMCPMC11675874

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.