Exome Sequencing Establishes Diagnosis of Alström Syndrome in an Infant Presenting with Non-Syndromic Dilated Cardiomyopathy

Por Long, Pamela A., Evans, Jared M., Olson, Timothy M.
Publicado no Am J Med Genet A (2015)

Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy

Por Long, Pamela A., Larsen, Brandon T., Evans, Jared M., Olson, Timothy M.
Publicado no J Am Heart Assoc (2015)

De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy

Por Long, Pamela A., Zimmermann, Michael T., Kim, Maengjo, Evans, Jared M., Xu, Xiaolei, Olson, Timothy M.
Publicado no Hum Genet (2016)

Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system

Por Jiang, Jing, Fridley, Brooke L., Feng, Qiping, Abo, Ryan P., Brisbin, Abra, Batzler, Anthony, Jenkins, Gregory, Long, Pamela A., Wang, Liewei
Publicado em 2013

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy

Por Theis, Jeanne L., Zimmermann, Michael T., Larsen, Brandon T., Rybakova, Inna N., Long, Pamela A., Evans, Jared M., Middha, Sumit, de Andrade, Mariza, Moss, Richard L., Wieben, Eric D., Michels, Virginia V., Olson, Timothy M.
Publicado em 2014

A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene

Por Ding, Yonghe, Long, Pamela A., Bos, J. Martijn, Shih, Yu-Huan, Ma, Xiao, Sundsbak, Rhianna S., Chen, Jianhua, Jiang, Yiwen, Zhao, Liqun, Hu, Xinyang, Wang, Jianan, Shi, Yongyong, Ackerman, Michael J., Lin, Xueying, Ekker, Stephen C., Redfield, Margaret M., Olson, Timothy M., Xu, Xiaolei
Publicado no JCI Insight (2016)

A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene

Por Ding, Yonghe, Long, Pamela A., Bos, J. Martijn, Shih, Yu-Huan, Ma, Xiao, Sundsbak, Rhianna S., Chen, Jianhua, Jiang, Yiwen, Zhao, Liqun, Hu, Xinyang, Wang, Jianan, Shi, Yongyong, Ackerman, Michael J., Lin, Xueying, Ekker, Stephen C., Redfield, Margaret M., Olson, Timothy M., Xu, Xiaolei
Publicado no JCI Insight (2017)