The intricate mechanisms behind genetic disorders are reshaping how we understand human disease. Inborn errors of immunity ...

We still have much to learn from monogenic diseases ... monogenic and polygenic inheritance. As monogenic disorders are, overall, mechanistically simpler than complex traits, they offer the ...

Furthermore, the variable features of particular traits can confuse researchers who are attempting to track the inheritance of these conditions. For example, some complex human diseases involve ...

Recent advances in the molecular genetics of PD have markedly improved our conception of its etiology and pathophysiology; however, the identification of different forms of monogenic PD has ...

Competing Interests: The authors declared no competing interests. Monogenic hypertension is caused by single gene mutations and accounts for a spectrum of familial forms of elevated blood pressure ...

Study: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes ... published in Nature Genetics, researchers investigated ...

Polygenic background modifies the clinical expression of monogenic epilepsies, a finding that has genetic counseling and ...

In a recent study published in Nature Genetics, researchers investigated the association of rare genetic variants with type 2 diabetes, focusing on the variants associated with monogenic diabetes.