INFERNO: inferring the molecular mechanisms of noncoding genetic variants by Amlie-Wolf, Alexandre, Tang, Mitchell, Mlynarski, Elisabeth E, Kuksa, Pavel P, Valladares, Otto, Katanic, Zivadin, Tsuang, Debby, Brown, Christopher D, Schellenberg, Gerard D, Wang, Li-San

Get full text

Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome by Mlynarski, Elisabeth E., Sheridan, Molly B., Xie, Michael, Guo, Tingwei, Racedo, Silvia E., McDonald McGinn, Donna M., Gai, Xiaowu, Chow, Eva W.C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H., Bassett, Anne S., Goldmuntz, Elizabeth, Morrow, Bernice E., Emanuel, Beverly S.

Get full text

TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy by Alquezar, Carolina, Schoch, Kathleen M, Geier, Ethan G, Ramos, Eliana Marisa, Scrivo, Aurora, Li, Kathy H, Argouarch, Andrea R, Mlynarski, Elisabeth E, Dombroski, Beth, DeTure, Michael, Dickson, Dennis W, Yokoyama, Jennifer S, Cuervo, Ana M, Burlingame, Alma L, Schellenberg, Gerard D, Miller, Timothy M, Miller, Bruce L, Kao, Aimee W

Get full text

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome by Mlynarski, Elisabeth E., Xie, Michael, Taylor, Deanne, Sheridan, Molly B., Guo, Tingwei, Racedo, Silvia E., McDonald-McGinn, Donna M., Chow, Eva W. C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J., Roberts, Amy E., Piotrowicz, Małgorzata, Bearden, Carrie E., Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R., Devoto, Marcella, Zackai, Elaine, Heine- Suñer, Damian, Goldmuntz, Elizabeth, Bassett, Anne S., Morrow, Bernice E., Emanuel, Beverly S.

Get full text

unique late-replicating XY to autosome translocation in Peromyscus melanophrys by Mlynarski, Elisabeth E, Obergfell, Craig, Dewey, Michael J, O'Neill, Rachel J

Get full text

Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations by Correll-Tash, Sarah, Lilley, Brenna, Salmons Iv, Harold, Mlynarski, Elisabeth, Franconi, Colleen P, McNamara, Meghan, Woodbury, Carson, Easley, Charles A, Emanuel, Beverly S

Get full text

Whole genome sequencing of Caribbean Hispanic families with late‐onset Alzheimer's disease by Vardarajan, Badri N., Barral, Sandra, Jaworski, James, Beecham, Gary W., Blue, Elizabeth, Tosto, Giuseppe, Reyes‐Dumeyer, Dolly, Medrano, Martin, Lantigua, Rafael, Naj, Adam, Thornton, Timothy, DeStefano, Anita, Martin, Eden, Wang, Li‐San, Brown, Lisa, Bush, William, Duijn, Cornelia, Goate, Allison, Farrer, Lindsay, Haines, Jonathan L., Boerwinkle, Eric, Schellenberg, Gerard, Wijsman, Ellen, Pericak‐Vance, Margaret A., Mayeux, Richard, Mosley, Cantwell, Laura, Childress, Micah, Chou, Yi‐Fan, Cweibel, Rebecca, Gangadharan, Prabhakaran, Kuzma, Amanda, Lin, Han‐Jen, Malamon, John, Mlynarski, Elisabeth, Naj, Adam, Qu, Liming, Schellenberg, Gerard, Valladares, Otto, Wang, Li‐San, Wang, Weixin, Zhang, Nancy, Below, Boerwinkle, Eric, Bressler, Jan, Fornage, Myriam, Jian, Xueqiu, Liu, Xiaoming, Bis, Blue, Elizabeth, Brown, Lisa, Day, Tyler, Dorschner, Michael, Nafikov, Navas, Pat, Nguyen, Hiep, Psaty, Bruce, Rice, Kenneth, Saad, Mohamad, Sohi, Harkirat, Thornton, Timothy, Tsuang, Debby, Wang, Bowen, Wijsman, Ellen, Appelbaum, Elizabeth, Cruchaga, Carlos, Koboldt, Daniel C, Waligorski, Jason

Get full text