Emerging RAS superfamily conditions involving GTPase function

por Shieh, Joseph T. C.
Publicado 2019

Optimizing genetics online resources for diverse readers

por Chang, Jiyoo, Penon-Portmann, Monica, Shieh, Joseph T.
Publicado 2019

Tumor and Constitutional Sequencing for Neurofibromatosis Type 1

por Tong, Schuyler, Devine, W. Patrick, Shieh, Joseph T.
Publicado 2022

Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis

por Blair, David R., Hoffmann, Thomas J., Shieh, Joseph T.
Publicado 2022

Genetics Workforce: Distribution of Genetics Services and Challenges to Healthcare in California

por Penon-Portmann, Monica, Chang, Jiyoo, Cheng, Mira, Shieh, Joseph T.
Publicado 2020

Elevated miR-499 Levels Blunt the Cardiac Stress Response

por Shieh, Joseph T. C., Huang, Yu, Gilmore, Jacqueline, Srivastava, Deepak
Publicado 2011

Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants

por Penon, Monica, Zahed, Hengameh, Berger, Victoria, Su, Irene, Shieh, Joseph T.
Publicado 2018

Twin mitochondrial sequence analysis

por Bouhlal, Yosr, Martinez, Selena, Gong, Henry, Dumas, Kevin, Shieh, Joseph T C
Publicado 2013

SUN-690 HNF4A Mutation in Siblings with Diazoxide Responsive Congenital Hyperinsulinism

por Erkin-Cakmak, Ayca, Chesser, Hannah, Shieh, Joseph, Ferrara, Christine, Gitelman, Stephen Eric, Capodanno, Gina
Publicado 2020

Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family hist...

por Chan, Andrew K., Han, Seunggu J., Choy, Winward, Beleford, Daniah, Aghi, Manish K., Berger, Mitchel S., Shieh, Joseph T., Bollen, Andrew W., Perry, Arie, Phillips, Joanna J., Butowski, Nicholas, Solomon, David A.
Publicado 2017

GBM heterogeneity as a function of variable epidermal growth factor receptor variant III activity

por Lindberg, Olle R., McKinney, Andrew, Engler, Jane R., Koshkakaryan, Gayane, Gong, Henry, Robinson, Aaron E., Ewald, Andrew J., Huillard, Emmanuelle, James, C. David, Molinaro, Annette M., Shieh, Joseph T., Phillips, Joanna J.
Publicado 2016

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

por Ge, Xiaoyan, Gong, Henry, Dumas, Kevin, Litwin, Jessica, Phillips, Joanna J, Waisfisz, Quinten, Weiss, Marjan M, Hendriks, Yvonne, Stuurman, Kyra E, Nelson, Stanley F, Grody, Wayne W, Lee, Hane, Kwok, Pui-Yan, Shieh, Joseph T C
Publicado 2016

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

por Shieh, Joseph T., Tintos-Hernandez, Jesus A., Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C., Phillips, Joanna J., Alves, César A.P.F., Dmochowski, Ivan J., Ortiz-González, Xilma R.
Publicado 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

por Shieh, Joseph T, Tintos-Hernández, Jesus A, Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C, Phillips, Joanna J, Alves, César A P F, Dmochowski, Ivan J, Ortiz-González, Xilma R
Publicado 2023

Application of full-genome analysis to diagnose rare monogenic disorders

por Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario
Publicado 2021

Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders

por Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario
Publicado 2021

Mutations in Hnrnpa1 cause congenital heart defects

por Yu, Zhe, Tang, Paul L.F., Wang, Jing, Bao, Suying, Shieh, Joseph T., Leung, Alan W.L., Zhang, Zhao, Gao, Fei, Wong, Sandra Y.Y., Hui, Andy L.C., Gao, Yuan, Dung, Nelson, Zhang, Zhi-Gang, Fan, Yanhui, Zhou, Xueya, Zhang, Yalun, Wong, Dana S.M., Sham, Pak C., Azhar, Abid, Kwok, Pui-Yan, Tam, Patrick P.L., Lian, Qizhou, Cheah, Kathryn S.E., Wang, Binbin, Song, You-Qiang
Publicado 2018

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

por Sheppard, Sarah E., March, Michael E., Seiler, Christoph, Matsuoka, Leticia S., Kim, Sophia E., Kao, Charlly, Rubin, Adam I., Battig, Mark R., Khalek, Nahla, Schindewolf, Erica, O’Connor, Nora, Pinto, Erin, Priestley, Jessica R.C., Sanders, Victoria R., Niazi, Rojeen, Ganguly, Arupa, Hou, Cuiping, Slater, Diana, Frieden, Ilona J., Huynh, Thy, Shieh, Joseph T., Krantz, Ian D., Guerrero, Jessenia C., Surrey, Lea F., Biko, David M., Laje, Pablo, Castelo-Soccio, Leslie, Nakano, Taizo A., Snyder, Kristen, Smith, Christopher L., Li, Dong, Dori, Yoav, Hakonarson, Hakon
Publicado 2023

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

por Slavotinek, Anne, Rego, Shannon, Sahin-Hodoglugil, Nuriye, Kvale, Mark, Lianoglou, Billie, Yip, Tiffany, Hoban, Hannah, Outram, Simon, Anguiano, Beatrice, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M., Curry, Cynthia, Gallagher, Renata C., Gardner, Marisa, Kuperman, Rachel, Mendelsohn, Bryce, Sherr, Elliott, Shieh, Joseph, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, Yusuph, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N., Koenig, Barbara, Ackerman, Sara, Risch, Neil, Kwok, Pui-Yan, Norton, Mary E.
Publicado 2023

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

por Slavotinek, Anne, Rego, Shannon, Sahin-Hodoglugil, Nuriye, Kvale, Mark, Lianoglou, Billie, Yip, Tiffany, Hoban, Hannah, Outram, Simon, Anguiano, Beatrice, Chen, Flavia, Michelson, Jeremy, Cilio, Roberta M., Curry, Cynthia, Gallagher, Renata C., Gardner, Marisa, Kuperman, Rachel, Mendelsohn, Bryce, Sherr, Elliott, Shieh, Joseph, Strober, Jonathan, Tam, Allison, Tenney, Jessica, Weiss, William, Whittle, Amy, Chin, Garrett, Faubel, Amanda, Prasad, Hannah, Mavura, Yusuph, Van Ziffle, Jessica, Devine, W. Patrick, Hodoglugil, Ugur, Martin, Pierre-Marie, Sparks, Teresa N., Koenig, Barbara, Ackerman, Sara, Risch, Neil, Kwok, Pui-Yan, Norton, Mary E.
Publicado 2023