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Human Genetics
H-index 41

Human Genetics

0340-6717

Published by: Springer

https://www.springer.com/journal/439

Ranking & Metrics

Discipline name Position Best Scientists Publications D-Index
Genetics 27 297 255 32

Additional Metrics

Number of Best Scientists*: 637
Documents by Best Scientists*: 390
Top 100 Ranked Scientists*: 28
SCIMAGO H-index: 155
SCIMAGO SJR: 1.597
Impact Factor: 3.6

Overview

Top Research Topics at Human Genetics?

The journal mainly deals with areas of study such as Genetics, Human genetics, Molecular biology, Gene and Allele. Human Genetics covers various topics on Genetics such as Locus (genetics), Chromosome, Gene mapping, Haplotype and Mutation. Issues in Locus (genetics) were discussed, taking into consideration concepts from other disciplines like Genetic marker and Genetic linkage.

The Chromosome works, particularly on Karyotype are tackled in the journal. The work tackled in Human Genetics goes beyond the discipline of Haplotype as it also encompasses Single-nucleotide polymorphism. While Human genetics is the key highlight in it, it also covered some subjects on Molecular medicine and Immunology.

The studies in Molecular biology featured incorporate elements of Biochemistry, DNA, Complementary DNA, Restriction fragment length polymorphism and X chromosome. Exon and Intron are Gene topics of special interest in the journal. The Allele study featured in the journal draws connections with the study of Genotype.

  • Genetics (63.08%)
  • Human genetics (28.00%)
  • Molecular biology (25.31%)

What are the most cited papers published in the journal?

  • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. (1191 citations)
  • Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries (1078 citations)
  • Protein mapping by combined isoelectric focusing and electrophoresis of mouse tissues. A novel approach to testing for induced point mutations in mammals. (1011 citations)

Research areas of the most cited articles at Human Genetics:

The journal publications primarily tackle Genetics, Molecular biology, Human genetics, Gene and Allele. Aside from discussions in Molecular biology, the journal publications also deal with the subject of X chromosome which intersects with Y chromosome disciplines. The published articles explore issues in Human genetics which can be linked to other research areas like Phenotype, Disease and Molecular medicine.

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

  • Gene
  • Internal medicine
  • Mutation

The previous edition focused in particular on these issues:

Human Genetics mostly deals with topics like Human genetics, Genetics, Gene, Hearing loss and Phenotype. While the journal mainly focused on Human genetics studies, it also tackled the scientific discipline of interrelated fields such as

  • Bioinformatics which intersects with area such as Molecular medicine,
  • Genome-wide association study that intertwine with fields like Genetic association.. Presentations on Genetics include those discussing Missense mutation, Exome sequencing, Allele, Locus (genetics) and Genetic heterogeneity.

Human Genetics concentrated on Gene research, specifically Regulation of gene expression, Whole genome sequencing and Mutation. The studies on Hearing loss discussed can also contribute to research in the domains of Etiology, Genetic testing and Usher syndrome. The Phenotype study tackled is a key component of adjacent topics in the area of Male infertility.

The most cited articles from the last journal are:

  • The genetic architecture of morphological abnormalities of the sperm tail. (38 citations)
  • Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease (37 citations)
  • Causal influences of neuroticism on mental health and cardiovascular disease. (26 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 Human Genetics (based on the number of publications) are:

  • David Neil Cooper (97 papers) published 2 papers at the last edition, 1 more than at the previous edition,
  • Horst Ritter (81 papers) absent at the last edition,
  • Jean-Pierre Fryns (79 papers) absent at the last edition,
  • H. Van den Berghe (67 papers) absent at the last edition,
  • Ulrich Wolf (66 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 Human Genetics (based on the number of publications) are:

  • French Institute of Health and Medical Research (445 papers) published 6 papers at the last edition, 5 less than at the previous edition,
  • Boston Children's Hospital (377 papers) published 11 papers at the last edition, 5 more than at the previous edition,
  • National Institutes of Health (312 papers) published 11 papers at the last edition, 6 more than at the previous edition,
  • University of Freiburg (255 papers) absent at the last edition,
  • Heidelberg University (231 papers) published 1 paper 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, 1.08% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 19.57% were posted by at least one author from the top 10 institutions publishing in the journal. Another 8.70% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 19.02% of all publications and 52.72% 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

  • The Human Gene Mutation Database (HGMD ® ): optimizing its use in a clinical diagnostic or research setting

    Peter D. Stenson;Matthew Mort;Edward V. Ball;Molly Chapman

    (2020)
    503 Citations
  • The genetic architecture of morphological abnormalities of the sperm tail.

    Aminata Touré;Guillaume Martinez;Zine-Eddine Kherraf;Caroline Cazin

    (2021)
    196 Citations
  • Discovery of shared genomic loci using the conditional false discovery rate approach

    Olav Bjerkehagen Smeland;Oleksandr Frei;Alexey A. Shadrin;Kevin O'Connell

    (2020)
    147 Citations
  • Embeddings from protein language models predict conservation and variant effects

    (2021)
    100 Citations
  • Is Population Structure in the genetic biobank era irrelevant, a challenge, or an opportunity?

    Daniel John Lawson;Neil Martin Davies;Simon Haworth;Bilal Ashraf

    (2020)
    98 Citations
  • Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.

    Laura Kasak;Maris Laan

    (2021)
    88 Citations
  • The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review

    (2022)
    81 Citations
  • Role of IRF8 in immune cells functions, protection against infections, and susceptibility to inflammatory diseases.

    Sandra Salem;David Salem;Philippe Gros

    (2020)
    80 Citations
  • Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

    (2021)
    76 Citations
  • Genome interpretation using in silico predictors of variant impact

    (2022)
    73 Citations

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