Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry

por Blue, Elizabeth E., Cheng, Anqi, Chen, Sunny, Yu, Chang-En
Publicado 2020

Admixture mapping reveals the association between Native American ancestry at 3q13.11 and reduced risk of Alzheimer’s disease in Caribbean Hispanics

por Horimoto, Andréa R. V. R., Xue, Diane, Thornton, Timothy A., Blue, Elizabeth E.
Publicado 2021

8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

por Dupont, William D., Breyer, Joan P., Plummer, W. Dale, Chang, Sam S., Cookson, Michael S., Smith, Joseph A., Blue, Elizabeth E., Bamshad, Michael J., Smith, Jeffrey R.
Publicado 2020

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

por Musfee, Fadi I., Guo, Dongchuan, Pinard, Amélie C., Hostetler, Ellen M., Blue, Elizabeth E., Nickerson, Deborah A., Bamshad, Michael J., Milewicz, Dianna M., Prakash, Siddharth K.
Publicado 2020

Functional annotation of genomic variants in studies of late-onset Alzheimer’s disease

por Butkiewicz, Mariusz, Blue, Elizabeth E, Leung, Yuk Yee, Jian, Xueqiu, Marcora, Edoardo, Renton, Alan E, Kuzma, Amanda, Wang, Li-San, Koboldt, Daniel C, Haines, Jonathan L, Bush, William S
Publicado 2018

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

por Truong, Brittany T., Shull, Lomeli C., Lencer, Ezra, Bend, Eric G., Field, Michael, Blue, Elizabeth E., Bamshad, Michael J., Skinner, Cindy, Everman, David, Schwartz, Charles E., Flanagan-Steet, Heather, Artinger, Kristin B.
Publicado 2023

Genetic Examination of Hematological Parameters in SARS-CoV-2 Infection and COVID-19

por Rowland, Bryce, Sun, Quan, Wang, Wanjiang, Miller-Fleming, Tyne, Cox, Nancy, Graff, Misa, Faucon, Annika, Shuey, Megan M., Blue, Elizabeth E., Auer, Paul, Li, Yun, Sankaran, Vijay G., Reiner, Alexander P., Raffield, Laura M.
Publicado 2022

Large‐scale sequencing studies expand the known genetic architecture of Alzheimer's disease

por Xue, Diane, Bush, William S., Renton, Alan E., Marcora, Edoardo A., Bis, Joshua C., Kunkle, Brian W., Boerwinkle, Eric, DeStefano, Anita L., Farrer, Lindsay, Goate, Alison, Mayeux, Richard, Pericak‐Vance, Margaret, Schellenberg, Gerard, Seshadri, Sudha, Wijsman, Ellen, Haines, Jonathan L., Blue, Elizabeth E.
Publicado 2021

Key variants via Alzheimer’s Disease Sequencing Project whole genome sequence data

por Wang, Yanbing, Sarnowski, Chloé, Lin, Honghuang, Pitsillides, Achilleas N, Heard-Costa, Nancy L, Choi, Seung Hoan, Wang, Dongyu, Bis, Joshua C, Blue, Elizabeth E, Boerwinkle, Eric, De Jager, Philip L, Fornage, Myriam, Wijsman, Ellen M, Seshadri, Sudha, Dupuis, Josée, Peloso, Gina M, DeStefano, Anita L
Publicado 2023

Human microglia show unique transcriptional changes in Alzheimer’s disease

por Prater, Katherine E., Green, Kevin J., Mamde, Sainath, Sun, Wei, Cochoit, Alexandra, Smith, Carole L., Chiou, Kenneth L., Heath, Laura, Rose, Shannon E., Wiley, Jesse, Keene, C. Dirk, Kwon, Ronald Y., Snyder-Mackler, Noah, Blue, Elizabeth E., Logsdon, Benjamin, Young, Jessica E., Shojaie, Ali, Garden, Gwenn A., Jayadev, Suman
Publicado 2023

Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations

por Horimoto, Andrea R.V.R., Boyken, Lisa A., Blue, Elizabeth E., Grinde, Kelsey E., Nafikov, Rafael A., Sohi, Harkirat K., Nato, Alejandro Q., Bis, Joshua C., Brusco, Luis I., Morelli, Laura, Ramirez, Alfredo, Dalmasso, Maria Carolina, Temple, Seth, Satizabal, Claudia, Browning, Sharon R., Seshadri, Sudha, Wijsman, Ellen M., Thornton, Timothy A.
Publicado 2023

FAVOR: functional annotation of variants online resource and annotator for variation across the human genome

por Zhou, Hufeng, Arapoglou, Theodore, Li, Xihao, Li, Zilin, Zheng, Xiuwen, Moore, Jill, Asok, Abhijith, Kumar, Sushant, Blue, Elizabeth E, Buyske, Steven, Cox, Nancy, Felsenfeld, Adam, Gerstein, Mark, Kenny, Eimear, Li, Bingshan, Matise, Tara, Philippakis, Anthony, Rehm, Heidi L, Sofia, Heidi J, Snyder, Grace, Weng, Zhiping, Neale, Benjamin, Sunyaev, Shamil R, Lin, Xihong
Publicado 2022

Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients

por Sun, Quan, Liu, Weifang, Rosen, Jonathan D., Huang, Le, Pace, Rhonda G., Dang, Hong, Gallins, Paul J., Blue, Elizabeth E., Ling, Hua, Corvol, Harriet, Strug, Lisa J., Bamshad, Michael J., Gibson, Ronald L., Pugh, Elizabeth W., Blackman, Scott M., Cutting, Garry R., O'Neal, Wanda K., Zhou, Yi-Hui, Wright, Fred A., Knowles, Michael R., Wen, Jia, Li, Yun
Publicado 2022

Accounting for population structure in genetic studies of cystic fibrosis

por Kingston, Hanley, Stilp, Adrienne M., Gordon, William, Broome, Jai, Gogarten, Stephanie M., Ling, Hua, Barnard, John, Dugan-Perez, Shannon, Ellinor, Patrick T., Gabriel, Stacey, Germer, Soren, Gibbs, Richard A., Gupta, Namrata, Rice, Kenneth, Smith, Albert V., Zody, Michael C., Blackman, Scott M., Cutting, Garry, Knowles, Michael R., Zhou, Yi-Hui, Rosenfeld, Margaret, Gibson, Ronald L., Bamshad, Michael, Fohner, Alison, Blue, Elizabeth E.
Publicado 2022

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

por Blue, Elizabeth E., White, Janson J., Dush, Michael K., Gordon, William W., Wyatt, Brent H., White, Peter, Marvin, Colby T., Helle, Emmi, Ojala, Tiina, Priest, James R., Jenkins, Mary M., Almli, Lynn M., Reefhuis, Jennita, Pangilinan, Faith, Brody, Lawrence C., McBride, Kim L., Garg, Vidu, Shaw, Gary M., Romitti, Paul A., Nembhard, Wendy N., Browne, Marilyn L., Werler, Martha M., Kay, Denise M., Mital, Seema, Chong, Jessica X., Nascone-Yoder, Nanette M., Bamshad, Michael J.
Publicado 2023

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

por Pujol‐Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E., Albano, Giuseppe, Miller, Danny E., Allworth, Aimee, Bennett, James T., Byers, Peter H., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Gillentine, Madelyn A., Glass, Ian, Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H., Rosenthal, Elisabeth A., Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Dipple, Katrina M., Hediger, Matthias A., Stergachis, Andrew B.
Publicado 2023

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

por Stergachis, Andrew B., Blue, Elizabeth E., Gillentine, Madelyn A., Wang, Lee-Kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y., Khan, Alyna T., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy H., Rosenthal, Elisabeth A., Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Tran, Thao T., Wener, Mark H., Byers, Peter H. H., Nelson, Stanley F., Bamshad, Michael J., Dipple, Katrina M., Jarvik, Gail P., Hoppins, Suzanne, Hisama, Fuki M.
Publicado 2023

Association of Common and Rare Variants with Alzheimer’s Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer’s Disease Sequencing Project

por Lee, Wan-Ping, Choi, Seung Hoan, Shea, Margaret G, Cheng, Po-Liang, Dombroski, Beth A, Pitsillides, Achilleas N, Heard-Costa, Nancy L, Wang, Hui, Bulekova, Katia, Kuzma, Amanda B, Leung, Yuk Yee, Farrell, John J, Lin, Honghuang, Naj, Adam, Blue, Elizabeth E, Nusetor, Frederick, Wang, Dongyu, Boerwinkle, Eric, Bush, William S, Zhang, Xiaoling, De Jager, Philip L, Dupuis, Josée, Farrer, Lindsay A, Fornage, Myriam, Martin, Eden, Pericak-Vance, Margaret, Seshadri, Sudha, Wijsman, Ellen M, Wang, Li-San, Schellenberg, Gerard D, Destefano, Anita L, Haines, Jonathan L, Peloso, Gina M
Publicado 2023

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

por Vollger, Mitchell R., Korlach, Jonas, Eldred, Kiara C., Swanson, Elliott, Underwood, Jason G., Cheng, Yong-Han H., Ranchalis, Jane, Mao, Yizi, Blue, Elizabeth E., Schwarze, Ulrike, Munson, Katherine M., Saunders, Christopher T., Wenger, Aaron M., Allworth, Aimee, Chanprasert, Sirisak, Duerden, Brittney L., Glass, Ian, Horike-Pyne, Martha, Kim, Michelle, Leppig, Kathleen A., McLaughlin, Ian J., Ogawa, Jessica, Rosenthal, Elisabeth A., Sheppeard, Sam, Sherman, Stephanie M., Strohbehn, Samuel, Yuen, Amy L., Reh, Thomas A., Byers, Peter H., Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Sancak, Yasemin, Dipple, Katrina M., Stergachis, Andrew B.
Publicado 2023

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

por Stergachis, Andrew B., Blue, Elizabeth E., Gillentine, Madelyn A, Wang, Lee-kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y., Khan, Alyna T., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy, Rosenthal, Elisabeth A., Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Tran, Thao T., Wener, Mark, Byers, Peter H., Nelson, Stanley F., Bamshad, Michael J., Dipple, Katrina M., Jarvik, Gail P., Hoppins, Suzanne, Hisama, Fuki M.
Publicado 2023