Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion

por Zhou, Yongxing, Sood, Raman, Wang, Qun, Carrington, Blake, Park, Morgan, Young, Alice C., Birnbaum, Daniel, Liu, Zhao, Ashizawa, Tetsuo, Mullikin, James C., Koubeissi, Mohamad Z., Liu, Paul
Publicado 2021

Plasmid Dynamics in KPC-Positive Klebsiella pneumoniae during Long-Term Patient Colonization

por Conlan, Sean, Park, Morgan, Deming, Clayton, Thomas, Pamela J., Young, Alice C., Coleman, Holly, Sison, Christina, Weingarten, Rebecca A., Lau, Anna F., Dekker, John P., Palmore, Tara N., Frank, Karen M., Segre, Julia A.
Publicado 2016

Gene-Based Sequencing Identifies Lipid-Influencing Variants with Ethnicity-Specific Effects in African Americans

por Bentley, Amy R., Chen, Guanjie, Shriner, Daniel, Doumatey, Ayo P., Zhou, Jie, Huang, Hanxia, Mullikin, James C., Blakesley, Robert W., Hansen, Nancy F., Bouffard, Gerard G., Cherukuri, Praveen F., Maskeri, Baishali, Young, Alice C., Adeyemo, Adebowale, Rotimi, Charles N.
Publicado 2014

Light whole genome sequence for SNP discovery across domestic cat breeds

por Mullikin, James C, Hansen, Nancy F, Shen, Lei, Ebling, Heather, Donahue, William F, Tao, Wei, Saranga, David J, Brand, Adrianne, Rubenfield, Marc J, Young, Alice C, Cruz, Pedro, Driscoll, Carlos, David, Victor, Al-Murrani, Samer WK, Locniskar, Mary F, Abrahamsen, Mitchell S, O'Brien, Stephen J, Smith, Douglas R, Brockman, Jeffrey A
Publicado 2010

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

por Davis, Erica E., Zhang, Qi, Liu, Qin, Diplas, Bill H., Davey, Lisa M., Hartley, Jane, Stoetzel, Corinne, Szymanska, Katarzyna, Ramaswami, Gokul, Logan, Clare V., Muzny, Donna M., Young, Alice C., Wheeler, David A., Cruz, Pedro, Morgan, Margaret, Lewis, Lora R., Cherukuri, Praveen, Maskeri, Baishali, Hansen, Nancy F., Mullikin, James C., Blakesley, Robert W., Bouffard, Gerard G., Gyapay, Gabor, Reiger, Susanne, Tönshoff, Burkhard, Kern, Ilse, Soliman, Neveen A., Neuhaus, Thomas J., Swoboda, Kathryn J., Kayserili, Hulya, Gallagher, Tomas E., Lewis, Richard A., Bergmann, Carsten, Otto, Edgar A., Saunier, Sophie, Scambler, Peter J., Beales, Philip L., Gleeson, Joseph G., Maher, Eamonn R., Attié-Bitach, Tania, Dollfus, Hélène, Johnson, Colin A., Green, Eric D., Gibbs, Richard A., Hildebrandt, Friedhelm, Pierce, Eric A., Katsanis, Nicholas
Publicado 2011

The complete sequence of a human genome*

por Nurk, Sergey, Koren, Sergey, Rhie, Arang, Rautiainen, Mikko, Bzikadze, Andrey V., Mikheenko, Alla, Vollger, Mitchell R., Altemose, Nicolas, Uralsky, Lev, Gershman, Ariel, Aganezov, Sergey, Hoyt, Savannah J., Diekhans, Mark, Logsdon, Glennis A., Alonge, Michael, Antonarakis, Stylianos E., Borchers, Matthew, Bouffard, Gerard G., Brooks, Shelise Y., Caldas, Gina V., Chen, Nae-Chyun, Cheng, Haoyu, Chin, Chen-Shan, Chow, William, de Lima, Leonardo G., Dishuck, Philip C., Durbin, Richard, Dvorkina, Tatiana, Fiddes, Ian T., Formenti, Giulio, Fulton, Robert S., Fungtammasan, Arkarachai, Garrison, Erik, Grady, Patrick G.S., Graves-Lindsay, Tina A., Hall, Ira M., Hansen, Nancy F., Hartley, Gabrielle A., Haukness, Marina, Howe, Kerstin, Hunkapiller, Michael W., Jain, Chirag, Jain, Miten, Jarvis, Erich D., Kerpedjiev, Peter, Kirsche, Melanie, Kolmogorov, Mikhail, Korlach, Jonas, Kremitzki, Milinn, Li, Heng, Maduro, Valerie V., Marschall, Tobias, McCartney, Ann M., McDaniel, Jennifer, Miller, Danny E., Mullikin, James C., Myers, Eugene W., Olson, Nathan D., Paten, Benedict, Peluso, Paul, Pevzner, Pavel A., Porubsky, David, Potapova, Tamara, Rogaev, Evgeny I., Rosenfeld, Jeffrey A., Salzberg, Steven L., Schneider, Valerie A., Sedlazeck, Fritz J., Shafin, Kishwar, Shew, Colin J., Shumate, Alaina, Sims, Ying, Smit, Arian F. A., Soto, Daniela C., Sović, Ivan, Storer, Jessica M., Streets, Aaron, Sullivan, Beth A., Thibaud-Nissen, Françoise, Torrance, James, Wagner, Justin, Walenz, Brian P., Wenger, Aaron, Wood, Jonathan M. D., Xiao, Chunlin, Yan, Stephanie M., Young, Alice C., Zarate, Samantha, Surti, Urvashi, McCoy, Rajiv C., Dennis, Megan Y., Alexandrov, Ivan A., Gerton, Jennifer L., O’Neill, Rachel J., Timp, Winston, Zook, Justin M., Schatz, Michael C., Eichler, Evan E., Miga, Karen H., Phillippy, Adam M.
Publicado 2022