The role played by natural selection on Mendelian traits in humans
Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?
Disruption of long-distance highly conserved noncoding elements in neurocristopathies
Modifier genes in Mendelian disorders: the example of hemoglobin disorders
Modifier genes in Mendelian disorders: the example of cystic fibrosis
Mendelian genetics of rare—and not so rare—cancers
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms
Impact of Mendelian inheritance in cardiovascular disease
Clues to immune tolerance: the monogenic autoimmune syndromes
Genetic regulation of human brain development: lessons from Mendelian diseases
Hearing loss: a common disorder caused by many rare alleles
Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine
Congenital disorders of glycosylation
New insights in gene-derived therapy: the example of Duchenne muscular dystrophy