Human Mutation

Top Research Topics at Human Mutation?

The foci of Human Mutation are Genetics, Gene, Mutation, Molecular biology and Missense mutation. Exon, Allele, Phenotype, Mutation (genetic algorithm) and Frameshift mutation are among the concentrations of Genetics that garnered much attention in the journal. Issues in Exon were discussed, taking into consideration concepts from other disciplines like RNA splicing and Intron.

Locus (genetics), Coding region, Haplotype, Mutation testing and Single-nucleotide polymorphism are all aspects of Gene discussed in the journal. The research on Mutation tackled can also make contributions to studies in the areas of Internal medicine and Genotype. The research on Molecular biology featured in it combines topics in other fields like Mutant, Point mutation, DNA and Single-strand conformation polymorphism, Polymerase chain reaction.

Nonsense mutation is a major topic of Missense mutation research. Human Mutation focuses on Germline mutation as well as the interrelated topic of Germline.

• Genetics (73.80%)
• Gene (35.34%)
• Mutation (26.65%)

What are the most cited papers published in the journal?

• Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. (1625 citations)
• Updated Comprehensive Phylogenetic Tree of Global Human Mitochondrial DNA Variation (1337 citations)
• Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. (1327 citations)

Research areas of the most cited articles at Human Mutation:

The journal articles focus on Genetics, Mutation, Gene, Missense mutation and Molecular biology. The most cited papers address concerns in Mutation which are intertwined with other disciplines, such as Internal medicine and Mutant. The journal papers explore issues in Missense mutation which can be linked to other research areas like Endocrinology and Haploinsufficiency.

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:

The primary areas of discussion in Human Mutation are Genetics, Gene, Exome sequencing, Missense mutation and Phenotype. Human Mutation aims to address concerns in Genetics, specifically in the areas of Allele, Frameshift mutation, Exon, Medical genetics and Exome. The study on Gene presented in the journal intersects with subjects under the field of Computational biology.

Missense mutation research in Human Mutation involves the investigation of Intellectual disability studies, all of which are linked to disciplines such as Loss function. The subject of Disease, which is connected to the field of Genome and Mitochondrial disease, serves as the foundation of the Phenotype research featured in it. Aside from discussions in RNA splicing, Human Mutation also deals with the subject of Intron which intersects with Molecular biology disciplines.

The most cited articles from the last journal are:

• Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. (12 citations)
• Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients (7 citations)
• More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. (5 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.

Top authors and change over time

The top authors publishing in Human Mutation (based on the number of publications) are:

• David Neil Cooper (79 papers) published 3 papers at the last edition,
• Johan T. den Dunnen (57 papers) published 1 paper at the last edition,
• Mauno Vihinen (50 papers) absent at the last edition,
• Arnold Munnich (42 papers) absent at the last edition,
• Christophe Béroud (41 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.

Top affiliations and change over time

Only papers with recognized affiliations are considered

The top affiliations publishing in Human Mutation (based on the number of publications) are:

• Boston Children's Hospital (465 papers) published 23 papers at the last edition, 7 less than at the previous edition,
• French Institute of Health and Medical Research (394 papers) published 7 papers at the last edition, 7 less than at the previous edition,
• National Institutes of Health (236 papers) published 3 papers at the last edition, 11 less than at the previous edition,
• Baylor College of Medicine (168 papers) published 5 papers at the last edition, 13 less than at the previous edition,
• Necker-Enfants Malades Hospital (129 papers) absent 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, 2.92% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 32.33% were posted by at least one author from the top 10 institutions publishing in the journal. Another 11.28% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 15.04% of all publications and 41.35% 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.