American Journal of Medical Genetics Part A

Mission Statement

The American Journal of Medical Genetics Part A is a scientific medical publication devoted to the study of the cause and pathogenesis, including molecular developmental analyses; delineation, including phenotype analyses, natural history and variability, nosology and new recognized syndromes; and management, including genetic counseling, care guidelines, and treatment, of human congenital anomalies and genetic disorders.

While recognizing the existence of thousands of human genetic conditions, the main focus is on phenotypically-driven analyses of disorders of morphogenesis, metabolism, and neurogenetics, especially intellectual disability. Other principal themes of the Journal include the epidemiology of congenital malformations and behavioral phenotypes of syndromes.