These manuscripts should contain a structured abstract of maximal 250 words, with the following subheadings: Introduction, Methods, Results, Discussion/Conclusion, a text body of maximal 5,000 words, and at most 80 references. epilepsy, premature ovarian failure, autism, male infertility, specific language impairment, schizophrenia) will only be considered if their focus pinpoints specific novel genes, previously undescribed gene functions, and/or mechanisms of disease. Genome wide or candidate gene cohort studies of a multifactorial clinical disorder (e.g. These may discuss clinical investigations on patient cohorts or experimental studies using in vitro or animal models. Manuscripts investigating biological and molecular mechanisms of disease aiming to improve our understanding of the clinical pathology are welcomed. A downloadable template is available below. Prior approval from an Institutional Review Board (IRB) or an Ethics Review Committee is required for all investigations involving human subjects.

Authors are asked to follow the EQUATOR Network for Research Articles. Research Articles are reports of original work. Consideration for publication is based on the article’s originality, novelty, and scientific soundness, and the appropriateness of its analysis. They must describe significant and original observations. Research Articles report on primary research. Journal Sections Molecular Syndromology publishes on the molecular basis of genetic syndromes, genotype-phenotype correlations, natural history, strategies in disease management and novel therapeutic approaches linked to molecular basis. To do so, Molecular Syndromology publishes research and review articles, case reports revealing novel genes, mutations and phenotypes, and summaries of symposia and workshops on themes with relevance to clinical genetics. The scope of Molecular Syndromology includes papers that elucidate the molecular and biochemical basis of the disease, genotype-phenotype correlations, and the prognosis and treatment options based on knowledge of the underlying mutation(s).

Page Charges/Article Processing ChargesĪbout the Journal Aims and Scope'Molecular Syndromology' aims to furnish the medical genetics community with clinically useful information regarding genetic and genomic disorders.

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