Using this approach, we have identified causative mutations in nearly 100 new mouse models of Mendelian disease. (jax.org)
Despite recent successes in identifying causative mutations for human heritable diseases through the use of sequencing technologies, an associated gene has not been identified for approximately half of the reported diseases. (infrafrontier.eu)
His group is now blending large - scale systems biology approaches with mechanistic and structural biochemistry to systematically annotate the functions of these mitochondrial proteins, including many that harbor causative mutations in human disease. (morgridge.org)