The burden of rare protein-truncating genetic variants on human lifespan

por Liu, Jimmy Z., Chen, Chia-Yen, Tsai, Ellen A., Whelan, Christopher D., Sexton, David, John, Sally, Runz, Heiko
Publicado 2022

Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine

por Tsai, Ellen A., Shakbatyan, Rimma, Evans, Jason, Rossetti, Peter, Graham, Chet, Sharma, Himanshu, Lin, Chiao-Feng, Lebo, Matthew S.
Publicado 2016

Exome Sequencing in Individuals with Isolated Biliary Atresia

por Rajagopalan, Ramakrishnan, Tsai, Ellen A., Grochowski, Christopher M., Kelly, Susan M., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella
Publicado 2020

DRAW+SneakPeek: Analysis workflow and quality metric management for DNA-seq experiments

por Lin, Chiao-Feng, Valladares, Otto, Childress, D. Micah, Klevak, Egor, Geller, Evan T., Hwang, Yih-Chii, Tsai, Ellen A., Schellenberg, Gerard D., Wang, Li-San
Publicado 2013

Rare genetic variants impact muscle strength

por Huang, Yunfeng, Bodnar, Dora, Chen, Chia-Yen, Sanchez-Andrade, Gabriela, Sanderson, Mark, Shi, Jun, Meilleur, Katherine G., Hurles, Matthew E., Gerety, Sebastian S., Tsai, Ellen A., Runz, Heiko
Publicado 2023

Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake

por Zimoń, Magdalena, Huang, Yunfeng, Trasta, Anthi, Halavatyi, Aliaksandr, Liu, Jimmy Z., Chen, Chia-Yen, Blattmann, Peter, Klaus, Bernd, Whelan, Christopher D., Sexton, David, John, Sally, Huber, Wolfgang, Tsai, Ellen A., Pepperkok, Rainer, Runz, Heiko
Publicado 2021

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

por Tsai, Ellen A., Gilbert, Melissa A., Grochowski, Christopher M., Underkoffler, Lara A., Meng, He, Zhang, Xiaojie, Wang, Michael M., Shitaye, Hailu, Hankenson, Kurt D., Piccoli, David, Lin, Henry, Kamath, Binita M., Devoto, Marcella, Spinner, Nancy B., Loomes, Kathleen M.
Publicado 2016

The impact of rare protein coding genetic variation on adult cognitive function

por Chen, Chia-Yen, Tian, Ruoyu, Ge, Tian, Lam, Max, Sanchez-Andrade, Gabriela, Singh, Tarjinder, Urpa, Lea, Liu, Jimmy Z., Sanderson, Mark, Rowley, Christine, Ironfield, Holly, Fang, Terry, Daly, Mark, Palotie, Aarno, Tsai, Ellen A., Huang, Hailiang, Hurles, Matthew E., Gerety, Sebastian S., Lencz, Todd, Runz, Heiko
Publicado 2023

The Parkinson’s disease-associated gene ITPKB protects against α-synuclein aggregation by regulating ER-to-mitochondria calcium release

por Apicco, Daniel J., Shlevkov, Evgeny, Nezich, Catherine L., Tran, David T., Guilmette, Edward, Nicholatos, Justin W., Bantle, Collin M., Chen, Yi, Glajch, Kelly E., Abraham, Neeta A., Dang, Lan T., Kaynor, G. Campbell, Tsai, Ellen A., Nguyen, Khanh-Dung H., Groot, Joost, Liu, YuTing, Weihofen, Andreas, Hurt, Jessica A., Runz, Heiko, Hirst, Warren D.
Publicado 2021

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

por de Klein, Niek, Tsai, Ellen A., Vochteloo, Martijn, Baird, Denis, Huang, Yunfeng, Chen, Chia-Yen, van Dam, Sipko, Oelen, Roy, Deelen, Patrick, Bakker, Olivier B., El Garwany, Omar, Ouyang, Zhengyu, Marshall, Eric E., Zavodszky, Maria I., van Rheenen, Wouter, Bakker, Mark K., Veldink, Jan, Gaunt, Tom R., Runz, Heiko, Franke, Lude, Westra, Harm-Jan
Publicado 2023

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

por Sanghvi, Rashesh V., Buhay, Christian J., Powell, Bradford C., Tsai, Ellen A., Dorschner, Michael O., Hong, Celine S., Lebo, Matthew S., Sasson, Ariella, Hanna, David S., McGee, Sean, Bowling, Kevin M., Cooper, Gregory M., Gray, David E., Lonigro, Robert J., Dunford, Andrew, Brennan, Christine A., Cibulskis, Carrie, Walker, Kimberly, Carneiro, Mauricio O., Sailsbery, Joshua, Hindorff, Lucia A., Robinson, Dan R., Santani, Avni, Sarmady, Mahdi, Rehm, Heidi L., Biesecker, Leslie G., Nickerson, Deborah A., Hutter, Carolyn M., Garraway, Levi, Muzny, Donna M., Wagle, Nikhil
Publicado 2017

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

por Karczewski, Konrad J., Solomonson, Matthew, Chao, Katherine R., Goodrich, Julia K., Tiao, Grace, Lu, Wenhan, Riley-Gillis, Bridget M., Tsai, Ellen A., Kim, Hye In, Zheng, Xiuwen, Rahimov, Fedik, Esmaeeli, Sahar, Grundstad, A. Jason, Reppell, Mark, Waring, Jeff, Jacob, Howard, Sexton, David, Bronson, Paola G., Chen, Xing, Hu, Xinli, Goldstein, Jacqueline I., King, Daniel, Vittal, Christopher, Poterba, Timothy, Palmer, Duncan S., Churchhouse, Claire, Howrigan, Daniel P., Zhou, Wei, Watts, Nicholas A., Nguyen, Kevin, Nguyen, Huy, Mason, Cara, Farnham, Christopher, Tolonen, Charlotte, Gauthier, Laura D., Gupta, Namrata, MacArthur, Daniel G., Rehm, Heidi L., Seed, Cotton, Philippakis, Anthony A., Daly, Mark J., Davis, J. Wade, Runz, Heiko, Miller, Melissa R., Neale, Benjamin M.
Publicado 2022

MULTI-ANCESTRY GENETIC STUDY IN 5,876 PATIENTS IDENTIFIES AN ASSOCIATION BETWEEN EXCITOTOXIC GENES AND EARLY OUTCOMES AFTER ACUTE ISCHEMIC STROKE.

por Ibanez, Laura, Heitsch, Laura, Carrera, Caty, Farias, Fabiana H.G., Dhar, Rajat, Budde, John, Bergmann, Kristy, Bradley, Joseph, Harari, Oscar, Phuah, Chia-Ling, Lemmens, Robin, Souza, Alessandro A. Viana Oliveira, Moniche, Francisco, Cabezas-Juan, Antonio, Arenillas, Juan Francisco, Krupinksi, Jerzy, Cullell, Natalia, Torres-Aguila, Nuria, Muiño, Elena, Cárcel-Márquez, Jara, Marti-Fabregas, Joan, Delgado-Mederos, Raquel, Marin-Bueno, Rebeca, Hornick, Alejandro, Vives-Bauza, Cristofol, Navarro, Rosa Diaz, Tur, Silvia, Jimenez, Carmen, Obach, Victor, Segura, Tomas, Serrano-Heras, Gemma, Chung, Jong-Won, Roquer, Jaume, Soriano-Tarraga, Carol, Giralt-Steinhauer, Eva, Mola-Caminal, Marina, Pera, Joanna, Lapicka-Bodzioch, Katarzyna, Derbisz, Justyna, Davalos, Antoni, Lopez-Cancio, Elena, Muñoz, Lucia, Tatlisumak, Turgut, Molina, Carlos, Ribo, Marc, Bustamante, Alejandro, Sobrino, Tomas, Castillo-Sanchez, Jose, Campos, Francisco, Rodriguez-Castro, Emilio, Arias-Rivas, Susana, Rodríguez-Yáñez, Manuel, Herbosa, Christina, Ford, Andria L., Arauz, Antonio, Lopes-Cendes, Iscia, Lowenkopf, Theodore, Barboza, Miguel A., Amini, Hajar, Stamova, Boryana, Ander, Bradley P., Sharp, Frank R, Kim, Gyeong Moon, Bang, Oh Young, Jimenez-Conde, Jordi, Slowik, Agnieszka, Stribian, Daniel, Tsai, Ellen A., Burkly, Linda C., Montaner, Joan, Fernandez-Cadenas, Israel, Lee, Jin-Moo, Cruchaga, Carlos
Publicado 2020