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Impact on the Sustainable Development Goals (SDGs)

Analysis of institutional authors

Aza-Carmona MAuthor

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February 26, 2018
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Article

IHH gene mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy

Publicated to: Journal Of Clinical Endocrinology & Metabolism. 103 (2): 604-614 - 2018-02-01 103(2), DOI: 10.1210/jc.2017-02026

Authors:

Vasques, GA; Funari, MFA; Ferreira, FM; Aza-Carmona, M; Sentchordi-Montané, L; Barraza-García, J; Lerario, AM; Yamamoto, GL; Naslavsky, MS; Duarte, YAO; Bertola, DR; Heath, KE; Jorge, AAL
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Affiliations

Hosp Univ La Paz, Skeletal Dysplasia Multidisciplinary Unit - Author
Hospital Universitario La Paz - Author
Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras - Author
Instituto de Salud Carlos III - Author
Instituto do Coracao do Hospital das Clinicas - Author
Univ Michigan, Dept Internal Med, Div Metab Endocrinol & Diabet - Author
Univ Sao Paulo, Fac Med, Inst Coracao, Lab Imunol - Author
Univ Sao Paulo, Fac Saude Publ, Dept Epidemiol - Author
Univ Sao Paulo, Hosp Clin, Fac Med, Inst Crianca,Unidade Genet Clin - Author
Univ Sao Paulo, Hosp Clin, Fac Med, Unidade Endocrinol Genet LIM 25 - Author
Univ Sao Paulo, Hosp Clin, Lab Hormonios & Genet Mol LIM 42, Fac Med,Unidade Endocrinol Desenvolvimento - Author
Univ Sao Paulo, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco - Author
Universidad Autónoma de Madrid - Author
Universidade de Sao Paulo - USP - Author
University of Michigan Medical School - Author
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Abstract

Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders.To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy.We studied 17 families with autosomal-dominant short stature by using whole exome sequencing and screened IHH defects in 290 patients with growth disorders. Molecular analyses were performed to evaluate the potential impact of N-terminal IHH variants.We identified 10 pathogenic or possibly pathogenic variants in IHH, an important regulator of endochondral ossification. Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be deleterious IHH variants found in short-stature samples (1.6%) was higher than that observed in two control cohorts (0.017% and 0.08%; P < 0.001). Identified IHH variants segregate with short stature in a dominant inheritance pattern. Affected individuals typically manifest mild disproportional short stature with a frequent finding of shortening of the middle phalanx of the fifth finger. None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations. Five patients heterozygous for IHH variants had a good response to rhGH therapy. The mean change in height standard deviation score in 1 year was 0.6.Our study demonstrated the association of pathogenic variants in IHH with short stature with nonspecific skeletal abnormalities and established a frequent cause of growth disorder, with a preliminary good response to rhGH.Copyright © 2017 Endocrine Society
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Keywords

Good health and well-being

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Journal Of Clinical Endocrinology & Metabolism 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, 2018, it was in position 22/145, thus managing to position itself as a Q1 (Primer Cuartil), in the category Endocrinology & Metabolism.

From a relative perspective, and based on the normalized impact indicator calculated from World Citations provided by WoS (ESI, Clarivate), it yields a value for the citation normalization relative to the expected citation rate of: 1.79. This 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: ESI Nov 13, 2025)

This information is reinforced by other indicators of the same type, which, although dynamic over time and dependent on the set of average global citations at the time of their calculation, consistently position the work at some point among the top 50% most cited in its field:

  • Weighted Average of Normalized Impact by the Scopus agency: 1.47 (source consulted: FECYT Mar 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2026-01-28, the following number of citations:

  • WoS: 54
  • Scopus: 46
  • Europe PMC: 1
  • Open Alex: 62
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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 2026-01-28:

  • 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: 58.
  • 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: 58 (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.
  • The number of mentions on the social network Facebook: 1 (Altmetric).
  • The number of mentions on the social network X (formerly Twitter): 2 (Altmetric).

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.
Continuing with the social impact of the work, it is important to emphasize that, due to its content, it can be assigned to the area of interest of ODS 3 - Ensure healthy lives and promote well-being for all at all ages, with a probability of 65% according to the mBERT algorithm developed by Aurora University.
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Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Brazil; United States of America.

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