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Analysis of institutional authors

Gracia, RicardoAuthorLecumberri, BeatrizAuthorIgnacio Rodriguez, JoseAuthor

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Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Publicated to:JOURNAL OF MEDICAL GENETICS. 48 (3): 212-216 - 2011-03-01 48(3), DOI: 10.1136/jmg.2010.081919

Authors: Romanelli, Valeria; Nevado, Julian; Fraga, Mario; Martin Trujillo, Alex; Angeles Mori, Maria; Fernandez, Luis; Perez de Nanclares, Guiomar; Martinez-Glez, Victor; Pita, Guillermo; Meneses, Heloisa; Gracia, Ricardo; Garcia-Minaur, Sixto; Garcia de Miguel, Purificacion; Lecumberri, Beatriz; Ignacio Rodriguez, Jose; Gonzalez Neira, Anna; Monk, David; Lapunzina, Pablo

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Abstract

Molecular studies in a patient with Beckwith-Wiedemann syndrome phenotype who developed two different tumours revealed an unexpected observation of almost complete loss of heterozygosity of all chromosomes. It is shown, by means of numerous molecular methods, that the absence of maternal contribution in somatic cells is due to high-degree (? 85%) genome-wide paternal uniparental disomy (UPD). The observations indicate that the genome-wide UPD results from diploidisation, and have important implications for genetic counselling and tumour surveillance for the growing number of UPD associated imprinting disorders.

Keywords

AbnormalitiesDeliveryMigrainePhenotypeSkin

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal JOURNAL OF MEDICAL GENETICS due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2011, it was in position 17/158, thus managing to position itself as a Q1 (Primer Cuartil), in the category Genetics & Heredity.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 2.45, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-08, the following number of citations:

  • WoS: 31
  • Scopus: 34
  • Europe PMC: 17
  • OpenCitations: 33

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-08:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 35.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 35 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 5.024.

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Brazil; London.