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Clinical Dysmorphology
H-index 5

Clinical Dysmorphology

0962-8827

Published by: Lippincott Williams & Wilkins

https://journals.lww.com/clindysmorphol/pages/default.aspx

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Genetics 129 21 24 5

Additional Metrics

Number of Best Scientists*: 34
Documents by Best Scientists*: 36
Top 100 Ranked Scientists*: 0
SCIMAGO H-index: 33
SCIMAGO SJR: 0.265
Impact Factor: 0.5

Overview

Top Research Topics at Clinical Dysmorphology?

The journal is organized to address concerns in the fields of Anatomy, Pediatrics, Genetics, Dermatology and Pathology. Topics in Anatomy explored in the journal were investigated in conjunction with research in Fetus, Surgery and Microcephaly. Pediatrics research is concerned with Short stature in particular.

Topics like Phenotype, Mutation (genetic algorithm), Gene, Karyotype and Chromosome are tackled as part of the discussions on Genetics.

  • Anatomy (25.07%)
  • Pediatrics (18.08%)
  • Genetics (17.96%)

What are the most cited papers published in the journal?

  • Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome. (117 citations)
  • The EEC syndrome: A literature study (114 citations)
  • Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome. (108 citations)

Research areas of the most cited articles at Clinical Dysmorphology:

The published articles tackle a plethora of topics, such as Anatomy, Pediatrics, Dermatology, Genetics and Pathology. The studies on Anatomy discussed at the most cited publications can also contribute to research in the domains of Microcephaly and Short stature. While Pediatrics is the focus of the published papers, it also provides insights into the studies of Hand deformity, Intellectual disability, Radiography and Pregnancy.

What topics the last edition of the journal is best known for?

  • Internal medicine
  • Mutation
  • Surgery

The previous edition focused in particular on these issues:

Clinical Dysmorphology focuses largely on the fields of Pediatrics, Genetics, MEDLINE, Phenotype and Pathology. In it, Ciliopathy, Intellectual disability and Facial dysmorphism are investigated in conjunction with one another to address concerns in Pediatrics research. While Intellectual disability is the focus of it, it also provided insights into the studies of Girl and Microcephaly.

The featured works in Gene duplication, Missense mutation, Gene and Frameshift mutation, which all belong in the domain if Genetics, also overlaps with concepts under Text mining. The research on Phenotype tackled can also make contributions to studies in the areas of Bioinformatics, Chromosomal translocation, Autosome, Exon and X-inactivation. Clinical Dysmorphology focuses on Pathology but the discussions also offer insight into other areas such as Mucolipidosis type II, Radiological weapon, Natural history, Retinal dystrophy and Spondyloepimetaphyseal dysplasia.

The most cited articles from the last journal are:

  • KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant. (1 citations)
  • Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. (1 citations)
  • Expanding the phenotype of PURA-related neurodevelopmental disorder: a close differential diagnosis of infantile hypotonia with psychomotor retardation and characteristic facies. (1 citations)

Papers citation over time

A key indicator for each journal is its effectiveness in reaching other researchers with the papers published at that venue.

The chart below presents the interquartile range (first quartile 25%, median 50% and third quartile 75%) of the number of citations of articles over time.

The top authors publishing in Clinical Dysmorphology (based on the number of publications) are:

  • Shubha R. Phadke (25 papers) published 1 paper at the last edition,
  • Robin M. Winter (23 papers) absent at the last edition,
  • Alan Fryer (22 papers) absent at the last edition,
  • William Reardon (21 papers) absent at the last edition,
  • Christine Hall (21 papers) absent at the last edition.

The overall trend for top authors publishing in this journal is outlined below. The chart shows the number of publications at each edition of the journal for top authors.

Only papers with recognized affiliations are considered

The top affiliations publishing in Clinical Dysmorphology (based on the number of publications) are:

  • Boston Children's Hospital (115 papers) published 2 papers at the last edition, 6 less than at the previous edition,
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences (27 papers) published 2 papers at the last edition,
  • St Mary's Hospital (26 papers) absent at the last edition,
  • United Arab Emirates University (26 papers) absent at the last edition,
  • Great Ormond Street Hospital (24 papers) published 2 papers at the last edition.

The overall trend for top affiliations publishing in this journal is outlined below. The chart shows the number of publications at each edition of the journal for top affiliations.

Publication chance based on affiliation

The publication chance index shows the ratio of articles published by the best research institutions in the journal edition to all articles published within that journal. The best research institutions were selected based on the largest number of articles published during all editions of the journal.

The chart below presents the percentage ratio of articles from top institutions (based on their ranking of total papers).Top affiliations were grouped by their rank into the following tiers: top 1-10, top 11-20, top 21-50, and top 51+. Only articles with a recognized affiliation are considered.

During the most recent 2021 edition, 14.04% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 14.29% were posted by at least one author from the top 10 institutions publishing in the journal. Another 4.08% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 24.49% of all publications and 57.14% were from other institutions.

Returning Authors Index

A very common phenomenon observed among researchers publishing scientific articles is the intentional selection of journals they have already attended in the past. In particular, it is worth analyzing the case when the authors participate in the same journal from year to year.

The Returning Authors Index presented below illustrates the ratio of authors who participated in both a given as well as the previous edition of the journal in relation to all participants in a given year.

Returning Institution Index

The graph below shows the Returning Institution Index, illustrating the ratio of institutions that participated in both a given and the previous edition of the conference in relation to all affiliations present in a given year.

The experience to innovation index

Our experience to innovation index was created to show a cross-section of the experience level of authors publishing in a journal. The index includes the authors publishing at the last edition of a journal, grouped by total number of publications throughout their academic career (P) and the total number of citations of these publications ever received (C).

The group intervals were selected empirically to best show the diversity of the authors' experiences, their labels were selected as a convenience, not as judgment. The authors were divided into the following groups:

  • Novice - P < 5 or C < 25 (the number of publications less than 5 or the number of citations less than 25),
  • Competent - P < 10 or C < 100 (the number of publications less than 10 or the number of citations less than 100),
  • Experienced - P < 25 or C < 625 (the number of publications less than 25 or the number of citations less than 625),
  • Master - P < 50 or C < 2500 (the number of publications less than 50 or the number of citations less than 2500),
  • Star - P ≥ 50 and C ≥ 2500 (both the number of publications greater than 50 and the number of citations greater than 2500).

The chart below illustrates experience levels of first authors in cases of publications with multiple authors.

Top Publications

  • Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.

    Asmat Ullah;Farah Bibi;Nighat Haider;Gulbin Shahid

    (2020)
    23 Citations
  • Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation

    (2021)
    10 Citations
  • SOX11-related syndrome: report on a new case and review.

    Victor Wakim;Pratibha Nair;Valérie Delague;Sami Bizzari

    (2021)
    9 Citations
  • Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.

    Mio Aerden;Lore Vallaeys;Maureen Holvoet;Liesbeth De Waele

    (2021)
    5 Citations
  • Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.

    (2022)
    5 Citations
  • A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.

    Yoko Narumi-Kishimoto;Hiroshi Ozawa;Kumiko Yanagi;Tomoko Kawai

    (2020)
    5 Citations
  • A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.

    Amir Hayat;Atif Ahmad Khan;Abdur Rauf;Saad Ullah Khan

    (2020)
    4 Citations
  • Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

    Angelika J Dawson;Karine Hovanes;Jing Liu;Sandra Marles

    (2021)
    3 Citations
  • Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

    Sébastien Mbuyi-Musanzayi;Eric I Kasamba;Nicole Revencu;Prosper T Lukusa

    (2020)
    3 Citations
  • Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features.

    Eric S Traub;Sarah E Sheppard;Yoav Dori;Katelyn D Burns

    (2021)
    3 Citations

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