Molecular Syndromology

Scope & Guideline

Illuminating the Path from Research to Practice

Introduction

Welcome to the Molecular Syndromology information hub, where our guidelines provide a wealth of knowledge about the journal’s focus and academic contributions. This page includes an extensive look at the aims and scope of Molecular Syndromology, highlighting trending and emerging areas of study. We also examine declining topics to offer insight into academic interest shifts. Our curated list of highly cited topics and recent publications is part of our effort to guide scholars, using these guidelines to stay ahead in their research endeavors.
LanguageEnglish
ISSN1661-8769
PublisherKARGER
Support Open AccessNo
CountrySwitzerland
TypeJournal
Convergefrom 2010 to 2024
AbbreviationMOL SYNDROMOL / Mol. Syndromol.
Frequency6 issues/year
Time To First Decision-
Time To Acceptance-
Acceptance Rate-
Home Page-
AddressALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND

Aims and Scopes

Molecular Syndromology focuses on the genetic basis and clinical implications of syndromic disorders, emphasizing the need for precise molecular diagnosis and management strategies. The journal's scope encompasses a wide range of genetic conditions, integrating clinical, radiological, and molecular findings.
  1. Genetic Characterization of Rare Syndromes:
    The journal publishes studies that provide insights into the genetic underpinnings of rare syndromic conditions, including novel gene variants and mutations that contribute to specific phenotypes.
  2. Clinical Case Reports and Reviews:
    It features detailed case studies that explore the clinical manifestations of genetic disorders, helping to expand the understanding of their phenotypic variability and management.
  3. Application of Next-Generation Sequencing (NGS):
    Research utilizing NGS technologies to identify genetic variants associated with syndromic disorders is a significant focus, showcasing advancements in molecular diagnostics.
  4. Phenotype-Genotype Correlation Studies:
    The journal emphasizes studies that correlate specific genetic mutations with clinical presentations, aiding in the refinement of diagnostic criteria and therapeutic approaches.
  5. Multidisciplinary Approaches to Diagnosis:
    Molecular Syndromology encourages interdisciplinary research combining genetics, neurology, pediatrics, and other fields to provide comprehensive insights into syndromic disorders.
Molecular Syndromology has seen a notable shift towards several emerging themes that reflect the current trends in genetic research and clinical practice. These themes are gaining traction and are likely to shape future studies.
  1. Integration of Artificial Intelligence in Genetic Diagnostics:
    There is a growing interest in employing AI and machine learning techniques to analyze genetic data, enhancing diagnostic accuracy and personalizing treatment strategies.
  2. Exploration of Epigenetic Factors:
    Research focusing on epigenetic modifications and their roles in syndromic disorders is on the rise, highlighting the complexity of gene expression regulation beyond traditional genetics.
  3. Increased Focus on Multisystemic Disorders:
    There is a trend towards studying genetic conditions that affect multiple organ systems, emphasizing the need for comprehensive clinical approaches that consider systemic implications.
  4. Collaboration Across International Cohorts:
    Emerging studies are increasingly drawing on data from diverse populations, facilitating the identification of genetic variants that may differ across ethnic groups and enhancing the understanding of global genetic diversity.
  5. Patient-Centric Research and Outcomes Analysis:
    The journal is witnessing a shift towards research that emphasizes patient outcomes, quality of life, and the social implications of genetic disorders, reflecting a more holistic approach to patient care.

Declining or Waning

While Molecular Syndromology continues to thrive in many areas, certain themes have shown signs of decline in recent publications. This reflects shifts in research focus and the evolving landscape of genetic syndromes.
  1. Focus on Common Genetic Disorders:
    There appears to be a decreasing emphasis on more common genetic disorders, as the journal increasingly prioritizes rare syndromic conditions and their unique genetic variants.
  2. Traditional Cytogenetic Techniques:
    The reliance on traditional cytogenetic methods, such as karyotyping, is waning as more sophisticated molecular techniques like whole-exome sequencing gain prominence.
  3. Generalized Phenotypic Descriptions:
    Papers that provide broad or generalized descriptions of syndromes without a specific focus on genetic underpinnings or clinical implications are becoming less frequent.

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