Evidence map›Paper›PMID 34884523›Full record

ArticleInternational journal of molecular sciences2021

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the

Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, Alejandra Tamayo, María José Trujillo-Tiebas, María Carmen Cotarelo-Pérez, Olga Pérez Rodríguez, Cristina Villaverde, Lorena de la Fuente, Raquel Romero and 4 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.3field-weighted citation impact, top 43% 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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. 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

14 authors at 3 institutions in 1 country.

Alejandra DamiánDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.ORCID 0000-0003-1886-8257
Raluca Oancea IonescuDepartment of Medical Genetics, University Hospital Clínico San Carlos, 28040 Madrid, Spain.ORCID 0000-0002-9577-314X
Marta Rodríguez de AlbaDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Alejandra TamayoDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
María José Trujillo-TiebasDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
María Carmen Cotarelo-PérezDepartment of Medical Genetics, University Hospital Clínico San Carlos, 28040 Madrid, Spain.ORCID 0000-0003-4693-4979
Olga Pérez RodríguezDepartment of Pediatrics, University Hospital Clínico San Carlos, 28040 Madrid, Spain.
Cristina VillaverdeDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Lorena de la FuenteDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Raquel RomeroDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Gonzalo Núñez-MorenoDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.ORCID 0000-0001-5982-570X
Pablo MínguezDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.ORCID 0000-0003-4099-9421
Carmen AyusoDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.ORCID 0000-0002-9242-7065
Marta CortónDepartment of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.ORCID 0000-0003-0087-1626
Centre for Biomedical Network Research on Rare Diseases · ESHospital Clínico San Carlos · ESHospital Universitario Fundación Jiménez Díaz · ES

Funding

CLINICAL TRIALS NETWORK: PACIFIC NORTHWEST NODEU10DA013714 · NIDA · UNIVERSITY OF WASHINGTON · PI DONOVAN, DENNIS MICHAEL, ROLL, JOHN M. · 2001 to 2015
$25.5M
Clinical Trials Network: Pacific Northwest Node (CTN-0082, -0131, -0139 and dissemination library)UG1DA013714 · NIDA · UNIVERSITY OF WASHINGTON · PI Mary Akiko Hatch, John M. Roll · 2015 to 2026
$19.8M
PREVENTING YOUTHFUL DRUG ABUSE: A LONGITUDINAL STUDYR01DA003721 · NIDA · UNIVERSITY OF WASHINGTON · PI HAWKINS, J DAVID · 1985 to 1992
–
Centre for Biomedical Network Research on Rare Diseases 06/07/0036Consejería de Economía, Empleo y Competitividad Comunidad de Madrid 2019-T2/BMD-13714Consejería de Economía, Empleo y Competitividad Comunidad de Madrid B2017/BMD-3721Consejería de Economía, Empleo y Competitividad Comunidad de Madrid PEJ-2020-AI/BMD-18610Fundación ONCE Ayuda Investigación 2020Fundación Ramón Areces Proyecto InvestigacionInstituto de Salud Carlos III CP16/00116Instituto de Salud Carlos III CPII17/00006Instituto de Salud Carlos III FI18/00123Instituto de Salud Carlos III IIS-FJD Biobank PT13/0010/0012Instituto de Salud Carlos III PI17/00164Instituto de Salud Carlos III PI20/00851
6 · The paper itself

Abstract

Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases. Mutations in the

Indexed as

Chromosome BreakpointsChromosome InversionCataractChildChromosome MappingChromosomes, Human, XFemaleGenetic Diseases, X-LinkedHumansMaleMembrane ProteinsPedigreeTooth AbnormalitiesMembrane ProteinsNHS protein, humanchromosomal rearrangementcongenital cataractNance-Horan syndromeNHSpericentric X inversionposition effectsstructural variation (SV)topologically associated domains (TADs)whole-genome sequencing (WGS)

Identifiers

PMID34884523
PMCPMC8657747
OpenAlexW3216802647

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.