 Subsequently, he and his collaborators showed that this mutation alters the splicing of the encoded globin transcript, resulting in a mild thalassemia phenotype.At NYU, members of his laboratory showed that genetic variants in the X-cone opsin caused color vision deficiencies by altering spectral tuning, transport, and stability of the encoded visual pigment proteins.Members of his group identified molecular actions of normal and mutant genes in normal and abnormal gonadal development, including, most recently, members of the MAP kinase signal transduction pathway.