Molecular Syndromology

Top Research Topics at Molecular Syndromology?

The journal primarily focuses on research topics in Genetics, Gene, Phenotype, Intellectual disability and Bioinformatics. In the Genetics research discussed, Mutation, Missense mutation, Chromosome, Haploinsufficiency and Gene duplication are all tackled. The study on Missense mutation presented in Molecular Syndromology intersects with the topics under Exome sequencing.

It investigates Exome sequencing research which frequently intersects with Proband. The in-depth study on Gene duplication also explores topics in the intersecting field of Chromosomal translocation. The Gene research presented places emphasis on topics like Exon, Frameshift mutation and Genetic disorder.

In it, Copy-number variation, Mutation (genetic algorithm), Disease, Pathology and Candidate gene are investigated in conjunction with one another to address concerns in Phenotype research. Molecular Syndromology explores issues in Intellectual disability which can be linked to other research areas like Autism, Hypotonia, Pediatrics, Microcephaly and Epilepsy. In particular, the Pediatrics works presented emphasize discussions on Short stature.

• Genetics (49.82%)
• Gene (22.71%)
• Phenotype (19.96%)

What are the most cited papers published in the journal?

• The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome) (259 citations)
• Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis (168 citations)
• Osteogenesis Imperfecta: A Review with Clinical Examples. (123 citations)

Research areas of the most cited articles at Molecular Syndromology:

The published papers generally zeroe in on subjects such as Genetics, Bioinformatics, Mutation, Phenotype and Pathology. While Genetics is the focus of the published articles, it also provides insights into the studies of Disease and Short stature. While work presented in the most cited publications provide substantial information on Bioinformatics, it also covers topics in Intellectual disability, CDKL5, Genetic counseling, Molecular genetics and Genetic heterogeneity.

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 aim of Molecular Syndromology is to expand the discussion of research in Genetics, Missense mutation, Gene, Pathology and Sanger sequencing. It tackles issues in Genetics, particularly in the topics of Frameshift mutation, Phenotype, Exon, Chromosome and Proband. Molecular Syndromology explores topics in Missense mutation which can be helpful for research in disciplines like Exome sequencing, Yunis–Varon syndrome, Intellectual disability, Sequence (medicine) and Hypotonia.

Issues in Intellectual disability were discussed, taking into consideration concepts from other disciplines like Language impairment, Haploinsufficiency, Pediatrics and Epilepsy. The studies in Gene featured incorporate elements of Molecular biology and Oxidative phosphorylation. Polydactyly, Natural history and Mild phenotype are some topics wherein Pathology research discussed in it have an impact.

The most cited articles from the last journal are:

• Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the KIFBP Gene. (2 citations)
• Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome. (1 citations)
• Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review. (1 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 Molecular Syndromology (based on the number of publications) are:

• Martin Poot (52 papers) published 3 papers at the last edition, 1 less than at the previous edition,
• Satz Mengensatzproduktion (10 papers) absent at the last edition,
• Carla Rosenberg (9 papers) published 1 paper at the last edition,
• Juliana F. Mazzeu (9 papers) absent at the last edition,
• Thomas Haaf (9 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 Molecular Syndromology (based on the number of publications) are:

• Boston Children's Hospital (33 papers) published 3 papers at the last edition, 1 more than at the previous edition,
• University of São Paulo (13 papers) published 2 papers at the last edition,
• University of Würzburg (10 papers) published 1 paper at the last edition,
• State University of Campinas (9 papers) published 1 paper at the last edition,
• Tartu University Hospital (8 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, 43.86% of publications had an unrecognized affiliation. Out of the publications with recognized affiliations, 25.00% were posted by at least one author from the top 10 institutions publishing in the journal. Another 3.12% included authors affiliated with research institutions from the top 11-20 affiliations. Institutions from the 21-50 range included 18.75% of all publications and 53.12% 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.