Clinical Genetics《临床遗传学》（月刊）. Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics《美国医学遗传学杂志C辑：医学遗传学研讨》（季刊）. Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG), serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics.
BALKAN JOURNAL OF MEDICAL GENETICS《巴尔干遗传学医学杂志》（半年刊）. Balkan Journal of Medical Genetics (BJMG) founder in 1998, is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
HUMAN GENOMICS《人类基因组学》（年刊）. Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics.Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.
HUMAN MUTATION《人类突变》（月刊）. Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed.
GENETICS IN MEDICINE《医学遗传学》（月刊）. Genetics in Medicine is the official journal of the American College of Medical Genetics and Genomics. The mission of the journal shall be to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health.
BMC MEDICAL GENOMICS《BMC医学基因组学》（年刊）. BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genetics and genomics, genome structure, genome-scale population genetics, epigenetics and epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
MOLECULAR GENETICS AND METABOLISM REPORTS《分子遗传学与代谢报告》（季刊）. Molecular Genetics and Metabolism Reports is a peer reviewed, open access journal that publishes reports describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states.
MOLECULAR GENETICS & GENOMIC MEDICINE《分子遗传学与基因组医学》（月刊）. Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics.
Clinical Dysmorphology《临床畸形学》（季刊）. Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes.