Purpose: Fanconi anemia is a genetically heterogeneous chromosomal breakage disorder exhibiting a high degree of clinical variability. Clinical diagnoses are confirmed by testing patient cells for ...

Forward genetic screens have been of fundamental importance in elucidating biological mechanisms in model species 1. Their success, however, has relied on the feasibility of mutant gene isolation.

Certain mutations and combinations of mutations in immune-related genes affect individuals' risk of developing a rare but serious kidney condition. These mutations also affect patient prognosis ...