Evidence map›Paper›PMID 39519277›Full record

ArticleInternational journal of molecular sciences2024

The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia.

Oleg S Glotov, Natalya A Zhuchenko, Maria S Balashova, Aleksandra N Raspopova, Victoria V Tsai, Alexandr N Chernov, Iana V Chuiko, Lavrentii G Danilov, Lyudmila D Morozova, Andrey S Glotov

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In one paragraph

Article in International journal of molecular sciences, 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. De NovoHuman mutation · 2026
    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

10 authors.

Oleg S GlotovDepartment of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia.ORCID 0000-0002-0091-2224
Natalya A ZhuchenkoDepartment of Medical Genetics, N.V. Sklifosovsky ICM, I.M. Sechenov First Moscow State Medical University, 119991 Moscow, Russia.
Maria S BalashovaDepartment of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia.
Aleksandra N RaspopovaCerbaLab Ltd., 199106 Saint Petersburg, Russia.
Victoria V TsaiDepartment of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia.
Alexandr N ChernovDepartment of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia.ORCID 0000-0003-2464-7370
Iana V ChuikoFaculty of Bioengineering and Bioinformatics, Moscow State University, 119991 Moscow, Russia.ORCID 0000-0001-6128-4738
Lavrentii G DanilovCerbaLab Ltd., 199106 Saint Petersburg, Russia.
Lyudmila D MorozovaDepartment of Medical Genetics, N.V. Sklifosovsky ICM, I.M. Sechenov First Moscow State Medical University, 119991 Moscow, Russia.
Andrey S GlotovDepartment of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia.ORCID 0000-0002-7465-4504

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypophosphatasia (HPP) is a rare inherited disorder characterized by the decreased activity of tissue-nonspecific alkaline phosphatase (TNSALP), caused by mutations in the

Indexed as

Alkaline PhosphataseExome SequencingHypophosphatasiaChildChild, PreschoolDiagnosis, DifferentialFemaleGenetic TestingHumansInfantMaleMutationAlkaline PhosphataseALPL protein, humanALPL gene pathogenic variantsclinical casesdifferential diagnosishypophosphatasemiaphenotypic overlapsrare diseaseswhole-exome sequencing

Identifiers

PMID39519277
PMCPMC11545870

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.