The work has been published in the journal Clinical 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, 2009, it was in position 54/146, thus managing to position itself as a Q2 (Segundo Cuartil), in the category Genetics & Heredity. Notably, the journal is positioned en el Cuartil Q2 para la agencia Scopus (SJR) en la categoría Genetics.

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: 1.54, 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 2025-06-27, the following number of citations:

• WoS: 6
• Scopus: 7
• Europe PMC: 4
• Open Alex: 14

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 2025-06-27:

• 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: 22 (PlumX).

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

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Macias Vidal, Judit) and Last Author (Coll Rosell, Mª José).

the author responsible for correspondence tasks has been Coll Rosell, Mª José.