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European Journal of Human Genetics
H-index 46

European Journal of Human Genetics

1018-4813

Published by: Springer

https://www.nature.com/ejhg/

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Genetics 19 523 551 37
Molecular Biology 63 39 58 18

Additional Metrics

Number of Best Scientists*: 1270
Documents by Best Scientists*: 819
Top 100 Ranked Scientists*: 51
SCIMAGO H-index: 147
SCIMAGO SJR: 1.603
Impact Factor: 4.6

Overview

Top Research Topics at European Journal of Human Genetics?

European Journal of Human Genetics is organized to address concerns in the fields of Genetics, Gene, Allele, Mutation and Haplotype. As a part of the journal, discussions in Genetics involve topics like Locus (genetics), Genetic linkage, Missense mutation, Phenotype and Single-nucleotide polymorphism. Genome-wide association study, Genetic association and SNP are some of the study areas of Single-nucleotide polymorphism discussed.

The work tackled in it goes beyond the discipline of Gene as it also encompasses Molecular biology. It focused on Allele research but expanded to cover Genotype. Genotype and Internal medicine are closely related fields of research discussed in it.

The main emphasis of it is the research on Haplotype, emphasizing the topic of Linkage disequilibrium.

  • Genetics (59.05%)
  • Gene (18.26%)
  • Allele (10.54%)

What are the most cited papers published in the journal?

  • Sex-specific, male-line transgenerational responses in humans. (881 citations)
  • The family based association test method: strategies for studying general genotype--phenotype associations. (712 citations)
  • Cardiovascular and diabetes mortality determined by nutrition during parents' and grandparents' slow growth period. (659 citations)

Research areas of the most cited articles at European Journal of Human Genetics:

The most cited papers investigate areas of study like Genetics, Gene, Mutation, Allele and Genotype. The most cited papers primarily discuss Genetics topics, particularly Missense mutation, Locus (genetics), Haplotype, Exon and Single-nucleotide polymorphism. In particular, the Gene works presented in the published articles emphasize discussions on Phenotype.

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

  • Gene
  • Mutation
  • Internal medicine

The previous edition focused in particular on these issues:

European Journal of Human Genetics explores disciplines such as Genetics, Gene, Phenotype, MEDLINE and Disease. Genetics, which encompasses Missense mutation, Allele, Exome sequencing, Exon and Proband, is the main subject of the journal. Some problems in Missense mutation that were presented in European Journal of Human Genetics overlapped with concepts under Germline and Frameshift mutation.

The study of Phenotype encompasses disciplines such as Intellectual disability, as well as fields such as Epilepsy, all of which overlap with one another. In it, Test (assessment), Genetic counseling and Family medicine are investigated in conjunction with one another to address concerns in MEDLINE research. The tackled Test (assessment) research is interrelated with Genetic testing which concerns subjects like Clinical psychology.

The most cited articles from the last journal are:

  • Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research. (16 citations)
  • Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission"). (15 citations)
  • Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort (13 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 European Journal of Human Genetics (based on the number of publications) are:

  • Koenraad Devriendt (70 papers) absent at the last edition,
  • Joris Vermeesch (69 papers) absent at the last edition,
  • Gert Matthijs (63 papers) absent at the last edition,
  • Jean-Pierre Fryns (62 papers) absent at the last edition,
  • Han G. Brunner (54 papers) published 8 papers 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 European Journal of Human Genetics (based on the number of publications) are:

  • French Institute of Health and Medical Research (388 papers) published 10 papers at the last edition, 3 less than at the previous edition,
  • Boston Children's Hospital (288 papers) published 33 papers at the last edition, 18 more than at the previous edition,
  • Katholieke Universiteit Leuven (198 papers) published 10 papers at the last edition, 4 more than at the previous edition,
  • Erasmus University Rotterdam (182 papers) published 10 papers at the last edition, 5 more than at the previous edition,
  • Radboud University Nijmegen (168 papers) published 28 papers at the last edition, 16 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, 3.77% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 39.22% were posted by at least one author from the top 10 institutions publishing in the journal. Another 10.98% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 9.02% of all publications and 40.78% 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

  • ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

    Elisa Benetti;Rossella Tita;Ottavia Spiga;Andrea Ciolfi

    (2020)
    268 Citations
  • Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

    Thierry Frebourg;Svetlana Bajalica Lagercrantz;Carla Oliveira;Rita Magenheim

    (2020)
    247 Citations
  • Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

    (2020)
    138 Citations
  • Recommendations for whole genome sequencing in diagnostics for rare diseases

    (2022)
    126 Citations
  • Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

    Guido de Wert;Wybo Dondorp;Angus Clarke;Elisabeth M.C. Dequeker

    (2021)
    108 Citations
  • The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

    (2021)
    101 Citations
  • Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

    (2022)
    97 Citations
  • Evaluation of CNV detection tools for NGS panel data in genetic diagnostics

    José Marcos Moreno-Cabrera;Jesús Del Valle;Elisabeth Castellanos;Lidia Feliubadaló

    (2020)
    92 Citations

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