Academic Journal
Q3Molecular Syndromology
About Molecular Syndromology
About Molecular Syndromology
Molecular Syndromology is a peer-reviewed scholarly journal published by S. Karger AG (Switzerland). It focuses on Q3. Publication coverage spans 2010-2026.
Key indicators: ISSN 1661-8777, 1661-8769; H-index 47.
Understanding This Journal's Metrics
Journal metrics help researchers assess fit, but they must be interpreted in context:
- H-index (47): 47 articles have each received at least 47 citations, indicating growing recognition.
Publishing in Molecular Syndromology
When considering this journal, verify its current indexing status, editorial board, and recent publications to ensure it meets your needs for visibility and credibility.
- Scope fit: Confirm your research aligns with Q3. Off-scope manuscripts are typically desk-rejected quickly.
- Author guidelines: Follow formatting, reference style, and article-type requirements exactly — non-compliant manuscripts may be returned without review.
- Submission: Submit via the official journal website.
Is This Journal Right for Your Paper?
- Audience match: Will the journal's readers cite and build on your findings?
- Timeline: Higher-tier journals mean longer review and higher rejection risk. Balance prestige against your schedule.
- Indexing: Confirm indexing in Web of Science, Scopus, and PubMed (if biomedical) meets your institutional requirements.
- Open access needs: Check funder mandates and whether the journal offers compliant OA options.
Frequently Asked Questions
What is the ISSN of Molecular Syndromology?
1661-8777, 1661-8769.
Who publishes Molecular Syndromology?
S. Karger AG.
What are Molecular Syndromology's metrics?
H-index 47.
Where do I submit to Molecular Syndromology?
Via the official website.
Is Molecular Syndromology peer-reviewed?
Yes — it is a peer-reviewed scholarly journal indexed in major academic databases.
Source-backed journal facts
Topics in published research
Genomic variations and chromosomal abnormalities; Genomics and Rare Diseases; Genetics and Neurodevelopmental Disorders; Diverse Scientific and Economic Studies; Congenital heart defects research; Human auditory perception and evaluation.
OpenAlex classifies topics from published works. These topics are not the publisher’s official aims and scope.
Source: OpenAlex source record. Retrieved 2026-10-03. Source record updated 2026-10-02. OpenAlex metrics are different from SCImago metrics and the Clarivate Journal Impact Factor.
Journal Metrics
Quartile, SJR and the listed SCImago H-index use the 2025 imported SCImago dataset. A quartile may vary by subject category. Values without a source or reporting year are unverified historical entries. Verify the current Journal Impact Factor with Clarivate or the publisher before using it.
Aims & Scope
The publisher’s official aims and scope have not yet been verified for this profile. Use the journal website to check subject fit and accepted article types before submitting.
Recent Research Articles
Latest publications matched automatically by ISSN.
Implementation of a Multi-Tiered Missense Predictor Pipeline for Variant Prioritization in Sleep-Related Hypermotor Epilepsy
Elsa Morina, Nihan Bilge Satkin
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Damla Eker, Cisem Mail, Veysel Öz, Sinem Yalcintepe et al.
2026-10-10 · DOI: 10.1159/msy/adrag025Case Reports for Copy Number Variations in Paediatric Non-Syndromic Obesity – New insights from two patients with MC4R deletions
André Weber, Rainer Wimmer, Sophie Engfer, Eberhard Wiedersberg et al.
2026-10-10 · DOI: 10.1159/msy/adrag026Obesity as an Underrecognized Feature of White–Sutton Syndrome: A POGZ-Related Case Report
Sirmen Kizilcan Çetin, Elif Kelestemur, Safak Demirtas, Hande Nur Sengil et al.
2026-10-10 · DOI: 10.1159/msy/adrag028Targeted Long-Read Sequencing Identifies Myotonic Dystrophy Type 1 in a Mildly Affected Elderly Patient with Negative Southern Blot Analysis: A Case Report
Juhee Chae, Jaehyeon Lee, Joonhong Park
2026-10-10 · DOI: 10.1159/msy/adrag027Molecularly Confirmed Dual Diagnosis of Sotos and Tenorio Syndromes in a Father and Son: A case report
Jair Tenorio-Castano, Sofia Catena, Angelica Kapely, Pedro Arias et al.
2026-10-07 · DOI: 10.1159/msy/adrag015Clinical, Biochemical, and Neuroimaging Characteristics of Glutaric Aciduria Type I, L-2-Hydroxyglutaric Aciduria, and Canavan Disease in Childhood
Burcu Koseci, Merve Yoldas Celik, Ezgi Burgac, Habibe Koc Ucar et al.
2026-10-05 · DOI: 10.1159/msy/adrag024Usher Syndrome Type 2A and Epileptic Encephalopathy with Spike-Wave Activation in Sleep: A Coincidental Dual Diagnosis? Case Report
Hande Gazeteci Tekin, Fatma Kuşgöz, Tayfun Cinleti, Özgen Hür et al.
2026-09-30 · DOI: 10.1159/msy/adrag009Diploid-Tetraploid Mosaicism (92,XXXX/46,XX) Associated with Nonimmune Hydrops Fetalis: A Case Report
Tuğçe Çağıran, Ferid Aliyev, Serap Ketenci İşlek, Pelin Özlem Şimşek Kiper et al.
2026-09-30 · DOI: 10.1159/msy/adrag010Branchial Cleft Cyst in Simpson-Golabi-Behmel Syndrome: A Case Report Expanding the Phenotypic Spectrum of GPC3-Related Disorders
handan akkus karabacak, EDA OZAYDIN, Ahmet Cevdet Ceylan
2026-09-25 · DOI: 10.1159/msy/adrag022De novo interstitial 3p21.31p14.2 duplication in a boy with esophageal atresia, talipes equinovarus, and global developmental delay: a case report
Özge Beyza Gündogdu Ögütlü, Kezban Karabag
2026-09-25 · DOI: 10.1159/msy/adrag023Neonatal Presentation of Tuberous Sclerosis Complex Diagnosed through Macrodactyly: A Case Report
Emine Aylin Şenol, Emek Uyur, Sümeyra Oğuz, Azize Büyükkoç et al.
2026-09-24 · DOI: 10.1159/msy/adrag017Erratum
2026-09-24 · DOI: 10.1159/msy/adrag018Xp;Yq Unbalanced Translocation in an Infertile Female:Case Report
Ahmet Kablan
2026-09-24 · DOI: 10.1159/msy/adrag021A Case Report of Pearson Syndrome: Addressing the Complexities beyond Anemia
Niladri Das, Haseena Sait, Anshima Singh, Rajesh Kumar Maurya et al.
2026-09-24 · DOI: 10.1159/msy/adrag020Phenotypic Heterogeneity in Schaaf-Yang Syndrome: Early Musculoskeletal Features and Growth Hormone Deficiency with Partial Empty Sella: A Case Report
Gülümay Vural Topaktas, Gülçin Arslan, Tayfun Cinleti, Esra Usluer et al.
2026-09-24 · DOI: 10.1159/msy/adrag019Complex Mosaic Chromosome 13 Rearrangement Involving +13,dic(13;13)(p11.2;p11.2) and r(13)(p11q34) Coexisting with a Homozygous UPB1 Variant: A Case Report
Tuna Eren Esen, Zuleyha Ayturk Sargin, Alper Gezdirici
2026-09-16 · DOI: 10.1159/msy/adrag016Phenotypic Evolution in a Boy with MYL11-Related Distal Arthrogryposis Type 1C: A Case Report
Rajesh K. Maurya, Niladri Das, Shubha R. Phadke, Amita Moirangthem et al.
2026-09-12 · DOI: 10.1159/msy/adrag013A Rare De Novo TUBB2A Variant (p.Arg2His) Associated with Microcephaly, Refractory Epilepsy, and Growth Hormone-Responsive Short Stature
Emregül Işık, Esma Kayılıoğlu, Esra Serdaroğlu, Ayşe Özdemir Gökçe et al.
2026-09-12 · DOI: 10.1159/msy/adrag012Multiexonic FLNB Deletion in Spondylocarpotarsal Synostosis Syndrome: A New Case Report
Ayşe Burcu Doğan Arı, Ahmet Cevdet Ceylan, Esra Kılıç
2026-09-05 · DOI: 10.1159/msy/adrag011Reviews
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Version History
October 10, 2026 at 5:12 am
October 2, 2026