Molecular Syndromology

Scope & Guideline

Connecting Molecular Genetics to Clinical 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.

Similar Journals

JOURNAL OF MEDICAL GENETICS

Elevating Understanding of Genetic Disorders Through Rigorous Research.
Publisher: BMJ PUBLISHING GROUPISSN: 0022-2593Frequency: 12 issues/year

JOURNAL OF MEDICAL GENETICS, published by the BMJ PUBLISHING GROUP, stands as a premier platform in the field of genetics, focusing on both fundamental genetic research and its clinical applications. With a distinctive legacy dating back to 1965 and a significant role in advancing the understanding of genetic disorders, this journal has established itself in the top tiers with a commendable Q1 category ranking in both Genetics and Clinical Genetics as of 2023. The journal's impact is underscored by its Scopus rankings, placing it among the leading journals in the fields of medicine and genetics. Researchers and practitioners are drawn to its rigorous peer-review process and its commitment to disseminating high-quality research findings, critical reviews, and innovative clinical practices. While it is not an open-access journal, the insights provided are invaluable for anyone looking to deepen their knowledge or contribute to the burgeoning field of medical genetics.

Journal of Pediatric Genetics

Navigating the Complexities of Pediatric Genetic Research
Publisher: GEORG THIEME VERLAG KGISSN: 2146-4596Frequency: 4 issues/year

Journal of Pediatric Genetics, published by GEORG THIEME VERLAG KG, is an essential resource in the field of pediatric medicine and genetics. With a focus on the genetic determinants of health and disease in children, this journal aims to advance the knowledge and application of genetic research in pediatric care. Although it has faced challenges in its indexing in recent years, it provides an important platform for practitioners and researchers dedicated to understanding the complexities of pediatric genetics. As evidenced by its position in Scopus ranks—ranked #209 in Pediatrics and #87 in Clinical Genetics—the journal serves a niche yet critical audience seeking to explore the interplay between genetic factors and childhood health outcomes. The Journal of Pediatric Genetics invites scholars and professionals to delve into its rich content, contributing to the ongoing discourse in this vital field, while the absence of open access highlights the journal’s curation of high-quality, peer-reviewed articles that are valued across academia and clinical practices.

CONGENITAL ANOMALIES

Exploring the complexities of congenital anomalies.
Publisher: WILEYISSN: 0914-3505Frequency: 4 issues/year

CONGENITAL ANOMALIES is a notable journal published by WILEY, dedicated to advancing the understanding of congenital disorders and anomalies through high-quality research and clinical insights. With an ISSN of 0914-3505 and an E-ISSN of 1741-4520, this journal has been a key resource for professionals in the fields of pediatrics, embryology, and developmental biology since its inception in 1973, although coverage discontinued in Scopus after 2019 due to evolving standards in publication. The journal is ranked in the 48th percentile in the domain of pediatrics, as well as in the 26th and 14th percentiles respectively for embryology and developmental biology, placing it among respected publications in its category. Although it does not currently offer open access options, its contributions remain vital for researchers, healthcare professionals, and students seeking up-to-date information on congenital anomalies, their origins, and potential interventions. With a commitment to fostering knowledge in this critical area of health science, CONGENITAL ANOMALIES continues to play an important role in the intersection of scientific research and clinical practice.

Genetic Testing and Molecular Biomarkers

Bridging Genetics and Medicine for a Healthier Tomorrow.
Publisher: MARY ANN LIEBERT, INCISSN: 1945-0265Frequency: 12 issues/year

Genetic Testing and Molecular Biomarkers, an esteemed journal published by MARY ANN LIEBERT, INC, serves as a pivotal platform for advancing the field of genetic research and its applications in medicine. Focused on the innovative intersections of genetics and biomarker discovery, this journal has consistently contributed meaningful insights since its inception in 2009, with its scope evolving through 2024. With an ISSN of 1945-0265 and an E-ISSN of 1945-0257, it offers both traditional and open access options to cater to a broad audience of researchers, professionals, and students. Despite its current classification in the Q4 and Q3 quartiles for Genetics (clinical) and Medicine (miscellaneous) respectively, the journal remains committed to publishing high-quality, peer-reviewed articles that push the boundaries of knowledge in the field. As the landscape of genomic medicine continues to expand, Genetic Testing and Molecular Biomarkers is positioned as a crucial resource for disseminating cutting-edge discoveries and fostering interdisciplinary collaboration.

Genetics Research

Exploring the Frontiers of Genetic Discovery
Publisher: HINDAWI LTDISSN: 0016-6723Frequency: 1 issue/year

Genetics Research, published by HINDAWI LTD, is a distinguished open access journal that has been at the forefront of genetic studies since its inception in 1960. With the transition to open access in 2019, this journal has expanded its accessibility, fostering knowledge dissemination across the global scientific community. Operating out of the United Kingdom, it provides a platform for innovative research in the fields of genetics and molecular biology, encompassing a broad range of topics that are highly relevant to medical sciences. As of 2023, it holds a Q4 classification in Genetics and a Q3 classification in miscellaneous Medicine, reflecting its ongoing commitment to scholarly excellence amidst shifting academic landscapes. While the journal's H-index remains unlisted, its indexed ranking within Scopus, with a rank of #325/328 in the Genetics category highlights the challenges ligated to its niche audience. Nevertheless, it serves as a crucial resource for researchers, professionals, and students eager to contribute to and stay informed on the latest genetic research trends and breakthroughs.

Cold Spring Harbor Molecular Case Studies

Pioneering new frontiers in biochemistry and genetics.
Publisher: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPTISSN: 2373-2873Frequency: 6 issues/year

Cold Spring Harbor Molecular Case Studies is a prestigious journal published by COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, that has garnered considerable attention in the fields of Biochemistry, Genetics, and Molecular Medicine. With a focus on the intersection of molecular biology and clinical case studies, this journal serves as a key resource for researchers and practitioners seeking to explore novel insights into genetic disorders and biomedical advances. Its impact is underscored by its categorization in Q2 in various disciplines in 2023, reflecting its significance and influence within the academic community. Although currently not labeled as Open Access, Cold Spring Harbor Molecular Case Studies provides a rigorous platform for disseminating high-quality, peer-reviewed research that drives innovation and enhances understanding in these rapidly evolving fields. As a supporter of advancing scientific knowledge, this journal is essential for those dedicated to the exploration of molecular mechanisms and their clinical implications.

AMERICAN JOURNAL OF HUMAN GENETICS

Shaping Tomorrow’s Genetic Discoveries Today
Publisher: CELL PRESSISSN: 0002-9297Frequency: 12 issues/year

The American Journal of Human Genetics, published by Cell Press, stands at the forefront of the genetics field, serving as an invaluable resource for researchers, clinicians, and students alike. With ISSN 0002-9297 and E-ISSN 1537-6605, this esteemed journal has been a cornerstone of genetic research since its inception in 1950 and continues to shape the landscape of human genetics as it evolves through 2024. Recognized for its exceptional quality, it holds a prestigious Q1 ranking in both genetics and clinical genetics, highlighting its significance and impact in the scientific community. With Scopus rankings placing it 5th out of 99 in clinical genetics and 20th out of 347 in biochemistry, genetics, and molecular biology, the journal attracts cutting-edge research and groundbreaking discoveries. While the journal maintains a subscription-only model for access, its contributions are critical in advancing our understanding of human genetics, making it a must-read for those dedicated to pushing the boundaries of knowledge in this dynamic field.

Bone Reports

Elevating the discourse in sports medicine and endocrinology.
Publisher: ELSEVIERISSN: 2352-1872Frequency: 2 issues/year

Bone Reports is a premier, peer-reviewed journal published by Elsevier that has been committed to advancing the field of orthopedics, sports medicine, and endocrinology since its inception as an open-access journal in 2015. With an ISSN of 2352-1872, this esteemed publication seeks to disseminate high-quality research that spans a diverse array of topics related to bone health, metabolic diseases, and musculoskeletal disorders. The journal boasts an impressive impact factor, contributing significantly to its recognition, with a Q2 ranking in Orthopedics and Sports Medicine and a Q3 ranking in Endocrinology, Diabetes, and Metabolism as of 2023. This open-access model enhances accessibility and engagement, allowing researchers, professionals, and students alike to stay at the forefront of developments in these critical areas. With an emphasis on rigorous methodology and innovative findings, Bone Reports is poised to become a vital resource for anyone interested in the latest advances in bone research and clinical applications.

EUROPEAN JOURNAL OF HUMAN GENETICS

Innovating the Future of Genetic Research
Publisher: SPRINGERNATUREISSN: 1018-4813Frequency: 12 issues/year

The EUROPEAN JOURNAL OF HUMAN GENETICS, published by SpringerNature, stands as a preeminent platform in the field of genetics and clinical genetics. Established in 1993, this prestigious journal, with an ISSN of 1018-4813 and an E-ISSN of 1476-5438, has consistently maintained its position in the Q1 quartile for both Genetics and Clinical Genetics categories as of 2023, reflecting its significant contributions to the field. Its impact is further underscored by its impressive Scopus rankings, placing it in the 92nd percentile among clinical genetics journals. The journal aims to disseminate cutting-edge research, case studies, and reviews that advance our understanding of human genetics, promoting collaboration and innovation among researchers, professionals, and students alike. While it does not currently offer open access, the journal provides substantial value through its rigorous peer review process and commitment to quality. As it continues to shape the future of genetic research through 2024 and beyond, the EUROPEAN JOURNAL OF HUMAN GENETICS remains an essential resource for those dedicated to exploring the complexities of human heredity.

GENOME RESEARCH

Advancing Knowledge in Genome Organization and Function
Publisher: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPTISSN: 1088-9051Frequency: 12 issues/year

Genome Research, published by Cold Spring Harbor Laboratory Press, stands as a premier journal in the field of genetics, featuring rigorous peer-reviewed research that explores the complexities of genome organization and function. With an impressive Q1 ranking in both Genetics and Clinical Genetics according to the 2023 category quartiles, this journal effectively bridges the gap between fundamental genetic science and its clinical applications. Its significance is further highlighted by its Scopus rankings, where it ranks #6 out of 99 in Clinical Genetics and #27 out of 347 in Biochemistry, Genetics, and Molecular Biology, showcasing its broad influence and access to cutting-edge discoveries. Researchers and professionals can look forward to a diverse array of articles that cover genomic technologies, bioinformatics, and translational genomics. Although not currently open access, the wealth of information available in each issue makes it an invaluable resource for anyone engaged in genetic research and applications.