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Orphanet Journal of Rare Diseases
H-index 43

Orphanet Journal of Rare Diseases

1750-1172

Published by: Springer

https://ojrd.biomedcentral.com/

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Medicine 368 398 429 40

Additional Metrics

Number of Best Scientists*: 908
Documents by Best Scientists*: 777
Top 100 Ranked Scientists*: 16
SCIMAGO H-index: 143
SCIMAGO SJR: 1.269
Impact Factor: 3.5

Overview

Top Research Topics at Orphanet Journal of Rare Diseases?

Orphanet Journal of Rare Diseases mainly deals with areas of study such as Internal medicine, Disease, Pediatrics, Human genetics and Genetics. The concepts on Internal medicine presented in it can also apply to other research fields, including Gastroenterology, Endocrinology and Cardiology. The studies on Disease discussed can also contribute to research in the domains of Clinical trial, Health care, Family medicine and Intensive care medicine.

Pediatrics research featured in Orphanet Journal of Rare Diseases incorporates concerns from various other topics such as Epidemiology, Young adult, Quality of life, Retrospective cohort study and Cohort. The work on Human genetics tackled in it brings together disciplines like Pharmacology toxicology and Bioinformatics. Presentations on Genetics include those discussing Mutation, Gene, Phenotype, Missense mutation and Exome sequencing.

  • Internal medicine (26.51%)
  • Disease (19.52%)
  • Pediatrics (16.54%)

What are the most cited papers published in the journal?

  • Niemann-Pick disease type C (821 citations)
  • Systemic lupus erythematosus (505 citations)
  • Huntington's disease: a clinical review (502 citations)

Research areas of the most cited articles at Orphanet Journal of Rare Diseases:

The published articles aim to foster the development of research in Internal medicine, Pediatrics, Endocrinology, Genetics and Disease. The published articles explore issues in Internal medicine which can be linked to other research areas like Gastroenterology and Cardiology. The works on Disease tackled in the published articles bring together disciplines like Incidence (epidemiology), Immunology, MEDLINE and Intensive care medicine.

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

  • Internal medicine
  • Disease
  • Gene

The previous edition focused in particular on these issues:

The journal mainly tackles studies in Disease, Internal medicine, Pediatrics, Human genetics and Rare disease. Orphanet Journal of Rare Diseases explores issues in Disease which can be linked to other research areas like Psychological intervention, Quality of life (healthcare), Quality of life, Intensive care medicine and Clinical psychology. The Internal medicine study featured in the journal draws parallels with the field of Gastroenterology.

In addition to Pediatrics research, the journal aims to explore topics under Epidemiology, Incidence (epidemiology) and Cohort. Orphanet Journal of Rare Diseases facilitates discussions on Human genetics that incorporate concepts from other fields like Phenotype, Pharmacology toxicology and Bioinformatics. It explores research in Rare disease alongside concepts in Family medicine and other areas of study in Health care.

The most cited articles from the last journal are:

  • Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. (11 citations)
  • Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years (10 citations)
  • Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature. (8 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 Orphanet Journal of Rare Diseases (based on the number of publications) are:

  • Carla E. M. Hollak (24 papers) absent at the last edition,
  • Ségolène Aymé (21 papers) absent at the last edition,
  • Enrico Bertini (20 papers) published 4 papers at the last edition,
  • Annet M. Bosch (20 papers) absent at the last edition,
  • Carlo Dionisi-Vici (19 papers) published 4 papers at the last edition, 1 more than at the previous 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 Orphanet Journal of Rare Diseases (based on the number of publications) are:

  • Boston Children's Hospital (350 papers) published 63 papers at the last edition, 17 more than at the previous edition,
  • French Institute of Health and Medical Research (171 papers) published 15 papers at the last edition, 3 more than at the previous edition,
  • Necker-Enfants Malades Hospital (109 papers) published 12 papers at the last edition, 3 more than at the previous edition,
  • University of Paris (102 papers) published 17 papers at the last edition the same number as at the previous edition,
  • University of Amsterdam (68 papers) published 6 papers at the last edition, 1 more than at the previous 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, 6.16% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 30.17% were posted by at least one author from the top 10 institutions publishing in the journal. Another 9.49% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 15.33% of all publications and 45.01% 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.

Career Opportunities in the Field of Rare Diseases

It's worth noting that many careers tie into the study and treatment of rare diseases. Many professionals turn their focus to rare diseases, aiming to make a difference in the lives of those affected and further research in the field. Jobs in this field range from direct care roles like doctors and nurses to research scientists studying the genetic aspects of these diseases. An ideal platform to begin such a career might be through a nursing program. For instance, the accredited nursing schools in best nursing schools in Wyoming offer rigorous programs that provide essential training for aspiring professionals.

Moreover, career opportunities in the rare diseases field include specialized roles such as genetic counseling, where trained professionals advise individuals and families on their risks for inherited conditions, including rare diseases. Individuals can also dive into pharmaceutical research, using their skills to develop new treatments and therapies for conditions that currently have limited treatments available.

Nonetheless, pursuing a career in the field of rare diseases requires dedication, a solid educational foundation, and a relentless passion for making a significant impact on individuals' lives. By building the necessary skills, garnering applicable knowledge and affiliating with the right institutions, healthcare and research professionals can play a critical role in demystifying rare diseases and potentially finding lasting solutions to these conditions.

Top Publications

  • PKU dietary handbook to accompany PKU guidelines

    A. MacDonald;A. M. J. van Wegberg;K. Ahring;S. Beblo

    (2020)
    161 Citations
  • Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966.

    Christina Bergqvist;Amandine Servy;Laurence Valeyrie-Allanore;Salah Ferkal

    (2020)
    126 Citations
  • ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease

    Kristiina Kyrklund;Cornelius E.J. Sloots;Ivo de Blaauw;Kristin Bjørnland

    (2020)
    120 Citations
  • Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.

    Thomas Opladen;Eduardo López-Laso;Elisenda Cortès-Saladelafont;Toni S. Pearson

    (2020)
    108 Citations
  • A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

    Guillaume Canaud;Adrienne M. Hammill;Denise Adams;Miikka Vikkula

    (2021)
    94 Citations
  • Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis.

    Giorgia Coratti;Giorgia Coratti;Costanza Cutrona;Maria Carmela Pera;Maria Carmela Pera;Francesca Bovis

    (2021)
    92 Citations
  • Phelan-McDermid syndrome: a classification system after 30 years of experience

    (2022)
    74 Citations
  • Natural history of lung function in spinal muscular atrophy

    Camiel A. Wijngaarde;Esther S. Veldhoen;Ruben P. A. van Eijk;Marloes Stam

    (2020)
    72 Citations
  • Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

    Marc C. Patterson;Eugen Mengel;Marie T. Vanier;Patrick Moneuse

    (2020)
    72 Citations
  • Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update

    (2022)
    69 Citations

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Best Scientists Contributing to This Journal

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