European Journal of Medical Genetics

Top Research Topics at European Journal of Medical Genetics?

The journal is organized to address concerns in the fields of Genetics, Gene, Phenotype, Internal medicine and Pediatrics. The journal facilitated presentations on Genetics research, particularly Mutation, Gene duplication, Chromosome, Missense mutation and Exome sequencing. The journal explores research in Gene duplication and the adjacent study of Comparative genomic hybridization.

Karyotype is a focus of the presented Chromosome works and it dives deep in Karyotype. It focuses on Exome sequencing as well as the interrelated topic of Frameshift mutation. Gene research presented is mostly focused on the subject of Exon.

The journal dives deep in exploring the relationship between the study of Phenotype and Intellectual disability. Some problems in Intellectual disability that were presented in the journal overlapped with concepts under Bioinformatics and Epilepsy. The studies in Internal medicine featured incorporate elements of Gastroenterology and Endocrinology.

• Genetics (49.91%)
• Gene (14.99%)
• Phenotype (14.06%)

What are the most cited papers published in the journal?

• Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals (206 citations)
• Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries (189 citations)
• Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. (172 citations)

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

The most cited papers tackle a plethora of topics, such as Genetics, Mutation, Pediatrics, Gene and Phenotype. The journal articles connects the study in Genetics with the closely related areas of Bioinformatics. The journal publications focus on Mutation but the discussions also offer insight into other areas such as Molecular biology, Genetic heterogeneity, Endocrinology and Pathology.

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 concepts of Genetics, Exome sequencing, Gene, Phenotype and Pediatrics are tackled in European Journal of Medical Genetics. In the Genetics research discussed, Intellectual disability, Missense mutation, Frameshift mutation, Exon and Sanger sequencing are all tackled. The Intellectual disability studies discussed in it incorporate research from disciplines like

• Short stature that intertwine with fields like Microcephaly and Karyotype,
• Disease which intersects with area such as Genetic testing..

European Journal of Medical Genetics focuses on Exome sequencing but the discussions also offer insight into other areas such as Global developmental delay, Prenatal diagnosis, Compound heterozygosity, Pathology and Neurodevelopmental disorder. Topics in Phenotype were tackled in line with various other fields like Hypotonia, Encephalopathy and Bioinformatics. The journal explores issues in Pediatrics which can be linked to other research areas like Cohort and Epilepsy.

The most cited articles from the last journal are:

• Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder. (4 citations)
• NGLY1 deficiency: Novel variants and literature review. (3 citations)
• Phenotype of ST3GAL3 deficient patients: A case and review of the literature. (2 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 European Journal of Medical Genetics (based on the number of publications) are:

• Koenraad Devriendt (32 papers) absent at the last edition,
• Alain Verloes (27 papers) published 1 paper at the last edition, 1 less than at the previous edition,
• Joris Andrieux (26 papers) absent at the last edition,
• Joris Vermeesch (25 papers) absent at the last edition,
• Raoul C.M. Hennekam (24 papers) published 1 paper at the last edition, 2 less 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.

Top affiliations and change over time

Only papers with recognized affiliations are considered

The top affiliations publishing in European Journal of Medical Genetics (based on the number of publications) are:

• Boston Children's Hospital (158 papers) published 19 papers at the last edition, 10 less than at the previous edition,
• French Institute of Health and Medical Research (111 papers) published 6 papers at the last edition, 9 less than at the previous edition,
• Katholieke Universiteit Leuven (80 papers) published 3 papers at the last edition, 2 less than at the previous edition,
• Necker-Enfants Malades Hospital (56 papers) published 3 papers at the last edition, 3 less than at the previous edition,
• Paris Descartes University (32 papers) published 1 paper at the last edition the same number as 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, 3.39% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 19.88% were posted by at least one author from the top 10 institutions publishing in the journal. Another 7.02% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 10.53% of all publications and 62.57% 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.