"T-bet"-ing on autoimmunity variants

Por Nguyen, Michelle L. T., Simeonov, Dimitre R., Marson, Alexander
Publicado no PLoS Genet (2017)

A divalent interaction between HPS1 and HPS4 is required for the formation of the Biogenesis of Lysosome-related Organelle Complex -3 (BLOC-3)

Por Carmona-Rivera, Carmelo, Simeonov, Dimitre R., Cardillo, Nicholas D., Gahl, William A., Cadilla, Carmen L.
Publicado em 2012

The Mechanical Properties of Drosophila Jump Muscle Expressing Wild-Type and Embryonic Myosin Isoforms

Por Eldred, Catherine C., Simeonov, Dimitre R., Koppes, Ryan A., Yang, Chaoxing, Corr, David T., Swank, Douglas M.
Publicado em 2010

Generation of knock-in primary human T cells using Cas9 ribonucleoproteins

Por Schumann, Kathrin, Lin, Steven, Boyer, Eric, Simeonov, Dimitre R., Subramaniam, Meena, Gate, Rachel E., Haliburton, Genevieve E., Ye, Chun J., Bluestone, Jeffrey A., Doudna, Jennifer A., Marson, Alexander
Publicado no Proc Natl Acad Sci U S A (2015)

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

Por Onojafe, Ighovie F., Adams, David R., Simeonov, Dimitre R., Zhang, Jun, Chan, Chi-Chao, Bernardini, Isa M., Sergeev, Yuri V., Dolinska, Monika B., Alur, Ramakrishna P., Brilliant, Murray H., Gahl, William A., Brooks, Brian P.
Publicado em 2011

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

Por Pierson, Tyler Mark, Simeonov, Dimitre R, Sincan, Murat, Adams, David A, Markello, Thomas, Golas, Gretchen, Fuentes-Fajardo, Karin, Hansen, Nancy F, Cherukuri, Praveen F, Cruz, Pedro, Blackstone, Craig, Tifft, Cynthia, Boerkoel, Cornelius F, Gahl, William A
Publicado em 2012

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

Por Shehata, Laila, Simeonov, Dimitre R., Raams, Anja, Wolfe, Lynne, Vanderver, Adeline, Li, Xueli, Huang, Yan, Garner, Shannon, Boerkoel, Cornelius F., Thurm, Audrey, Herman, Gail E., Tifft, Cynthia J., He, Miao, Jaspers, Nicolaas G.J., Gahl, William A.
Publicado em 2014

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

Por Simeonov, Dimitre R., Wang, Xinjing, Wang, Chen, Sergeev, Yuri, Dolinska, Monika, Bower, Matthew, Fischer, Roxanne, Winer, David, Dubrovsky, Genia, Balog, Joan Z., Huizing, Marjan, Hart, Rachel, Zein, Wadih M., Gahl, William A., Brooks, Brian P., Adams, David R.
Publicado em 2013

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM(1)-gangliosidosis

Por Mark Pierson, Tyler, Adams, David A., Markello, Thomas, Golas, Gretchen, Yang, Sandra, Sincan, Murat, Simeonov, Dimitre R., Fuentes Fajardo, Karin, Hansen, Nancy F., Cherukuri, Praveen F., Cruz, Pedro, Teer, Jamie K., Mullikin, James C., Boerkoel, Cornelius F., Gahl, William A., Tifft, Cynthia J.
Publicado em 2012

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

Por Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A
Publicado em 2014