A BLOC-1 Mutation Screen Reveals a Novel BLOC1S3 Mutation in Hermansky-Pudlak Syndrome Type 8 (HPS-8)

av Cullinane, Andrew R, Curry, James A, Golas, Gretchen, Pan, James, Carmona-Rivera, Carmelo, Hess, Richard A, White, James G, Huizing, Marjan, Gahl, William A
Publicerad 2012

Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

av Cullinane, Andrew R., Vilboux, Thierry, O’Brien, Kevin, Curry, James A., Maynard, Dawn M., Carlson-Donohoe, Hannah, Ciccone, Carla, Markello, Thomas C., Gunay-Aygun, Meral, Huizing, Marjan, Gahl, William A.
Publicerad 2011

A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

av Cullinane, Andrew R., Curry, James A., Carmona-Rivera, Carmelo, Summers, C. Gail, Ciccone, Carla, Cardillo, Nicholas D., Dorward, Heidi, Hess, Richard A., White, James G., Adams, David, Huizing, Marjan, Gahl, William A.
Publicerad 2011

Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

av Cullinane, Andrew R., Curry, James A., Carmona-Rivera, Carmelo, Summers, C. Gail, Ciccone, Carla, Cardillo, Nicholas D., Dorward, Heidi, Hess, Richard A., White, James G., Adams, David, Huizing, Marjan, Gahl, William A.
I publikationen Am J Hum Genet (2017)

Structures of The HIN Domain:DNA Complexes Reveal Ligand Binding and Activation Mechanisms of The AIM2 Inflammasome and IFI16 Receptor

av Jin, Tengchuan, Perry, Andrew, Jiang, Jiansheng, Smith, Patrick, Curry, James A., Unterholzner, Leonie, Jiang, Zhaozhao, Horvath, Gabor, Rathinam, Vijay, Johnstone, Ricky W., Hornung, Veit, Latz, Eicke, Bowie, Andrew G., Fitzgerald, Katherine A., Xiao, T. Sam
Publicerad 2012