Clinical Genetics

Top Research Topics at Clinical Genetics?

The journal explores disciplines such as Genetics, Internal medicine, Endocrinology, Gene and Phenotype. The journal covers various topics on Genetics such as Mutation, Allele, Karyotype, Chromosome and Mutation (genetic algorithm). The works on Mutation deal in particular with Missense mutation.

Allele research discussed connects with the study of Genotype. The Karyotype study tackled is a key component of adjacent topics in the area of Chromosomal translocation. The Internal medicine works featured in it incorporate elements from Gastroenterology and Oncology.

Most of the works presented in Clinical Genetics deals with Endocrinology but it intersects with the subject of Pediatrics.

• Genetics (49.47%)
• Internal medicine (19.27%)
• Endocrinology (15.12%)

What are the most cited papers published in the journal?

• Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease (699 citations)
• The molecular regulation of myogenesis. (616 citations)
• Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications (606 citations)

Research areas of the most cited articles at Clinical Genetics:

The journal publications focus on Genetics, Internal medicine, Endocrinology, Gene and Mutation. The presentations in the published papers discussing Genetics offer insights in topics such as Allele, Phenotype, Genotype, Missense mutation and Exon. The most cited papers focus on Internal medicine but the discussions also offer insight into other areas such as Gastroenterology and Oncology.

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

• Internal medicine
• Gene
• Mutation

The previous edition focused in particular on these issues:

The journal mainly deals with areas of study such as Genetics, Phenotype, Gene, Exome sequencing and Missense mutation. Allele, Loss function, Frameshift mutation, Intellectual disability and Compound heterozygosity studies are all carried out as a component of the study in Genetics presented. Phenotype research presented in the journal encompasses a variety of subjects, including Bioinformatics, Pathology, Internal medicine, Microcephaly and Genotype.

While work presented in Clinical Genetics provided substantial information on Internal medicine, it also covered topics in Endocrinology and Oncology. Gene research presented is mostly focused on the subject of Mutation. The research on Missense mutation featured in the journal combines topics in other fields like Hypotonia and Disease.

The most cited articles from the last journal are:

• Description of neurodevelopmental phenotypes associated with ten genetic neurodevelopmental disorders: A scoping review (8 citations)
• Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice. (8 citations)
• Molecular intrinsic versus clinical subtyping in breast cancer: A comprehensive review. (7 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 Clinical Genetics (based on the number of publications) are:

• Jean-Pierre Fryns (106 papers) absent at the last edition,
• Kåre Berg (54 papers) absent at the last edition,
• H. Van den Berghe (52 papers) absent at the last edition,
• Kristian Berg (46 papers) absent at the last edition,
• Peter Beighton (42 papers) published 1 paper 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 Clinical Genetics (based on the number of publications) are:

• Boston Children's Hospital (410 papers) published 34 papers at the last edition, 18 more than at the previous edition,
• University of British Columbia (315 papers) published 1 paper at the last edition the same number as at the previous edition,
• French Institute of Health and Medical Research (163 papers) published 14 papers at the last edition, 1 more than at the previous edition,
• Katholieke Universiteit Leuven (155 papers) published 5 papers at the last edition, 2 more than at the previous edition,
• University of Oslo (155 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, 2.75% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 31.13% were posted by at least one author from the top 10 institutions publishing in the journal. Another 2.36% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 14.15% of all publications and 52.36% 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.