Twist1 mediated regulation of glioma tumorigenicity is dependent on mode of mouse neural progenitor transformation

за авторством Mikheev, Andrei M., Mikheeva, Svetlana A., Tokita, Mari, Severs, Liza J., Rostomily, Robert C.
Опубліковано 2017

Concomitant diagnosis of immune deficiency and Pseudomonas sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing

за авторством Sanford, Erica, Farnaes, Lauge, Batalov, Serge, Bainbridge, Matthew, Laubach, Susan, Worthen, H. Michael, Tokita, Mari, Kingsmore, Stephen F., Bradley, John
Опубліковано 2018

Neonatal diabetes mellitus due to a novel variant in the INS gene

за авторством Laurenzano, Sarah E., McFall, Cory, Nguyen, Linda, Savla, Dipal, Coufal, Nicole G., Wright, Meredith S., Tokita, Mari, Dimmock, David, Kingsmore, Stephen F., Newfield, Ron S.
Опубліковано 2019

Werner syndrome through the lens of tissue and tumour genomics

за авторством Tokita, Mari, Kennedy, Scott R., Risques, Rosa Ana, Chun, Stephen G., Pritchard, Colin, Oshima, Junko, Liu, Yan, Bryant-Greenwood, Peter K., Welcsh, Piri, Monnat, Raymond J.
Опубліковано 2016

Post-translational modification and conformational state of Heat Shock Protein 90 differentially affect binding of chemically diverse small molecule inhibitors

за авторством Beebe, Kristin, Mollapour, Mehdi, Scroggins, Bradley, Prodromou, Chrisostomos, Xu, Wanping, Tokita, Mari, Taldone, Tony, Pullen, Lester, Zierer, Bettina K., Lee, Min-Jung, Trepel, Jane, Buchner, Johannes, Bolon, Daniel, Chiosis, Gabriela, Neckers, Leonard
Опубліковано 2013

TWIST1 Heterodimerization with E12 Requires Coordinated Protein Phosphorylation to Regulate Periostin Expression

за авторством Mikheeva, Svetlana A., Camp, Nathan D., Huang, Lei, Jain, Antrix, Jung, Sung Yun, Avci, Naze G., Tokita, Mari, Wolf-Yadlin, Alejandro, Zhang, Jing, Tapscott, Stephen J., Rostomily, Robert C., Mikheev, Andrei M.
Опубліковано 2019

Biallelic loss of GNAS in a patient with pediatric medulloblastoma

за авторством Tokita, Mari J., Nahas, Shareef, Briggs, Benjamin, Malicki, Denise M., Mesirov, Jill P., Reyes, Iris Anne C., Farnaes, Lauge, Levy, Michael L., Kingsmore, Stephen F., Dimmock, David, Crawford, John R., Wechsler-Reya, Robert J.
Опубліковано 2019

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

за авторством Cao, Ye, Tokita, Mari J., Chen, Edward S., Ghosh, Rajarshi, Chen, Tiansheng, Feng, Yanming, Gorman, Elizabeth, Gibellini, Federica, Ward, Patricia A., Braxton, Alicia, Wang, Xia, Meng, Linyan, Xiao, Rui, Bi, Weimin, Xia, Fan, Eng, Christine M., Yang, Yaping, Gambin, Tomasz, Shaw, Chad, Liu, Pengfei, Stankiewicz, Pawel
Опубліковано 2019

Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes

за авторством Kumar, Akash, Boyle, Evan A, Tokita, Mari, Mikheev, Andrei M, Sanger, Michelle C, Girard, Emily, Silber, John R, Gonzalez-Cuyar, Luis F, Hiatt, Joseph B, Adey, Andrew, Lee, Choli, Kitzman, Jacob O, Born, Donald E, Silbergeld, Daniel L, Olson, James M, Rostomily, Robert C, Shendure, Jay
Опубліковано 2014

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

за авторством Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E., Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G., Boles, Richard G., Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A., Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa
Опубліковано 2016

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

за авторством Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Опубліковано 2018

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

за авторством Kingsmore, Stephen F., Smith, Laurie D., Kunard, Chris M., Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P., Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C., Guidugli, Lucia, Hall, Kevin P., Hansen, Christian, Hobbs, Charlotte A., Kahn, Scott D., Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H., Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R., Oh, Danny, Owen, Mallory J., Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S., Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G., Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J., Wolen, Aaron R., Defay., Thomas
Опубліковано 2022

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

за авторством Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.
Опубліковано 2015