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Advancement of genetic and genomic technologies in recent years has highlighted how a human traits and diseases are underscored by diverse genetic architecture forming a continuum ranging from rare variants of large effect, to common variants with small effect. Genetic Disorders section publishes high-quality research probing the genetic basis of disease, irrespective of whether the disease falls under the traditional labels of Mendelian disorder, complex disease (or related quantitative trait), or oligogenic phenomena that fall somewhere in between. Genetic Disorders encourages multidisciplinary genetic studies that intersect with cell and molecular biology approaches, model organisms, or systems biology applications aimed at elucidating underlying mechanism and therapeutic avenues. Studies exploring variable penetrance, variable expressivity, or gene by environment interaction are also welcome.
- Human genetic studies of a wide range of disorders and related disease-relevant traits. These include, but are not limited to: (1) prenatal and reproductive genetics; (2) Mendelian disorders; (3) complex traits and polygenic disorders; (4) cancer genetics; and (5) epigenetics.
- Genetic and genomic studies describing new causal or contributory loci with priority for research including mechanistic follow-up employing in vitro or in vivo model systems.
- Novel computational approaches applied to the dissection of human genetic disease.
- Translational studies including novel diagnostics, therapeutic target identification, or preclinical studies.
Founding Specialty Chief Editor: Jumana Y Al-Aama, King Abdulaziz University, Jeddah, Saudi Arabia.
Indexed in: PubMed, PubMed Central, Web of Science, Google Scholar, DOAJ, Chemical Abstracts Service (CAS), Science Citation Index Expanded, CLOCKSS
PMCID: all published articles receive a PMCID
Genetic Disorders welcomes submissions of the following article types: Case Report, Classification, Clinical Study Protocol, Clinical Trial, Correction, Editorial, General Commentary, Hypothesis and Theory, Methods, Mini Review, Opinion, Original Research, Perspective, Protocols, Review, Systematic Review and Technology Report.
All manuscripts must be submitted directly to the section Genetic Disorders, where they are peer-reviewed by the Associate and Review Editors of the specialty section.
Articles published in the section Genetic Disorders will benefit from the Frontiers impact and tiering system after online publication. Authors of published original research with the highest impact, as judged democratically by the readers, will be invited by the Chief Editor to write a Frontiers Focused Review - a tier-climbing article. This is referred to as "democratic tiering". The author selection is based on article impact analytics of original research published in all Frontiers specialty journals and sections. Focused Reviews are centered on the original discovery, place it into a broader context, and aim to address the wider community across all of Genetics and Pediatrics.
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