The MDT-15 Subunit of Mediator Interacts with Dietary Restriction to Modulate Longevity and Fluoranthene Toxicity in Caenorhabditis elegans

por Schleit, Jennifer, Wall, Valerie Z., Simko, Marissa, Kaeberlein, Matt
Publicado 2011

Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy

por Hawer, Harmen, Mendelsohn, Bryce A., Mayer, Klaus, Kung, Ann, Malhotra, Amit, Tuupanen, Sari, Schleit, Jennifer, Brinkmann, Ulrich, Schaffrath, Raffael
Publicado 2020

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

por Sargolzaeiaval, Forough, Zhang, Jiaming, Schleit, Jennifer, Lessel, Davor, Kubisch, Christian, Precioso, Debora R., Sillence, David, Hisama, Fuki M., Dorschner, Michael, Martin, George M., Oshima, Junko
Publicado 2018

Elevated Proteasome Capacity Extends Replicative Lifespan in Saccharomyces cerevisiae

por Kruegel, Undine, Robison, Brett, Dange, Thomas, Kahlert, Günther, Delaney, Joe R., Kotireddy, Soumya, Tsuchiya, Mitsuhiro, Tsuchiyama, Scott, Murakami, Christopher J., Schleit, Jennifer, Sutphin, George, Carr, Daniel, Tar, Krisztina, Dittmar, Gunnar, Kaeberlein, Matt, Kennedy, Brian K., Schmidt, Marion
Publicado 2011

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

por Hathaway, Julie, Heliö, Krista, Saarinen, Inka, Tallila, Jonna, Seppälä, Eija H., Tuupanen, Sari, Turpeinen, Hannu, Kangas-Kontio, Tiia, Schleit, Jennifer, Tommiska, Johanna, Kytölä, Ville, Valori, Miko, Muona, Mikko, Sistonen, Johanna, Gentile, Massimiliano, Salmenperä, Pertteli, Myllykangas, Samuel, Paananen, Jussi, Alastalo, Tero-Pekka, Heliö, Tiina, Koskenvuo, Juha
Publicado 2021

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

por Tuupanen, Sari, Gall, Kimberly, Sistonen, Johanna, Saarinen, Inka, Kämpjärvi, Kati, Wells, Kirsty, Merkkiniemi, Katja, von Nandelstadh, Pernilla, Sarantaus, Laura, Känsäkoski, Johanna, Mårtenson, Emma, Västinsalo, Hanna, Schleit, Jennifer, Sankila, Eeva-Marja, Kere, Annakarin, Junnila, Heidi, Siivonen, Pauli, Andreevskaya, Margarita, Kytölä, Ville, Muona, Mikko, Salmenperä, Pertteli, Myllykangas, Samuel, Koskenvuo, Juha, Alastalo, Tero-Pekka
Publicado 2022

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

por Koskenvuo, Juha W., Saarinen, Inka, Ahonen, Saija, Tommiska, Johanna, Weckström, Sini, Seppälä, Eija H., Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Heliö, Krista, Hathaway, Julie, Gummesson, Anders, Dahlberg, Pia, Ojala, Tiina H., Vepsäläinen, Ville, Kytölä, Ville, Muona, Mikko, Sistonen, Johanna, Salmenperä, Pertteli, Gentile, Massimiliano, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero-Pekka, Heliö, Tiina
Publicado 2021

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

por 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.
Publicado 2015