Genetics and albinism, Methods for mapping and identifying genes responsible for complex diseases
Selected Publications (Pubmed Search)
Gardner JG, Wildenberg SC, Keiper NM, Novak EK, Rusiniak ME, Swank RT, Puri N, Finger JN, Hagiwara N, Lehman AL, Gales T, Bayer ME, King RA, Brilliant MH. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome (HPS). Proceedings of the National Academy Science USA 94:9238-9243, 1997.
Wildenberg SC, Fryer JP, Gardner JM, Oetting WS, Mao J-I, Brilliant M, King RA. Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. Journal of Investigative Dermatology 110:777-781, 1998.
Young TL, Ronan S, Drahozal L, Wildenberg SC, Oetting WS, Atwood LD, Wilkin D, King RA. Evidence that a locus for familial high myopia maps to chromosome 18p. American Journal of Human Genetics 63: 109-119, 1998.
Young TL, Ronan SM, Alvear AB, Wildenberg SC, Oetting WS, Atwood LD, Wilkin DJ, King RA. A second locus for familial high myopia maps to chromosome 12q. American Journal of Human Genetics 63:1419-1424, 1998.
Oetting WS, King RA. Molecular basis of albinism: mutations and polymorphisms of pigment genes associated with albinism. Human Mutation 13:99-115, 1999
Fryer JP, Oetting WS, Brott MJ, King RA. Alternative splicing of the human tyrosinase gene in human melanocytes and lymphoblastoid cell lines. Journal of Investigative Dermatology (in press).
Ober C, Leavitt SA, Tsalenko A, Howard TD, Hoki DM, Daniel R, Newman DL, Wu X, Parry R, Lester LA, Solway J, Blumenthal M, King RA, Xu J, Meyers DA, Bleecker ER, Cox NJ. Variation in the interlukin-4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. American Journal of Human Genetics 66:517-526, 2000.