Characterizing the Major Structural Variant Alleles of the Human Genome von Audano, Peter A., Sulovari, Arvis, Graves-Lindsay, Tina A., Cantsilieris, Stuart, Sorensen, Melanie, Welch, AnneMarie E., Dougherty, Max L., Nelson, Bradley J., Shah, Ankeeta, Dutcher, Susan K., Warren, Wesley C., Magrini, Vincent, McGrath, Sean D., Li, Yang I., Wilson, Richard K., Eichler, Evan E.

Volltext

Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans von Hsieh, PingHsun, Dang, Vy, Vollger, Mitchell R., Mao, Yafei, Huang, Tzu-Hsueh, Dishuck, Philip C., Baker, Carl, Cantsilieris, Stuart, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Underwood, Jason G., Eichler, Evan E.

Volltext

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family von Cantsilieris, Stuart, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Penewit, Kelsi, Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Dang, Vy, Grassmann, Felix, Richardson, Andrea J., Guymer, Robyn H., Graves-Lindsay, Tina A., Wilson, Richard K., Weber, Bernhard H. F., Baird, Paul N., Allikmets, Rando, Eichler, Evan E.

Volltext

An evolutionary driver of interspersed segmental duplications in primates von Cantsilieris, Stuart, Sunkin, Susan M., Johnson, Matthew E., Anaclerio, Fabio, Huddleston, John, Baker, Carl, Dougherty, Max L., Underwood, Jason G., Sulovari, Arvis, Hsieh, PingHsun, Mao, Yafei, Catacchio, Claudia Rita, Malig, Maika, Welch, AnneMarie E., Sorensen, Melanie, Munson, Katherine M., Jiang, Weihong, Girirajan, Santhosh, Ventura, Mario, Lamb, Bruce T., Conlon, Ronald A., Eichler, Evan E.

Volltext

Long-read sequence and assembly of segmental duplications von Vollger, Mitchell R., Dishuck, Philip C., Sorensen, Melanie, Welch, AnneMarie E., Dang, Vy, Dougherty, Max L., Graves-Lindsay, Tina A., Wilson, Richard K., Chaisson, Mark J. P., Eichler, Evan E.

Volltext

Disposable Autonomous Device for Swab-to-Result Diagnosis of Influenza von Huang, Shichu, Abe, Koji, Bennett, Steven, Liang, Tinny, Ladd, Paula D, Yokobe, Lindsay, Anderson, Caitlin E, Shah, Kamal, Bishop, Josh, Purfield, Mike, Kauffman, Peter C, Paul, Sai, Welch, AnneMarie E, Strelitz, Bonnie, Follmer, Kristin, Pullar, Kelsey, Sanchez-Erebia, Luis, Gerth-Guyette, Emily, Domingo, Gonzalo, Klein, Eileen, Englund, Janet A, Fu, Elain, Yager, Paul

Volltext

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases von Rius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, AnneMarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R., Christodoulou, John

Volltext

Multi-platform discovery of haplotype-resolved structural variation in human genomes von Chaisson, Mark J. P., Sanders, Ashley D., Zhao, Xuefang, Malhotra, Ankit, Porubsky, David, Rausch, Tobias, Gardner, Eugene J., Rodriguez, Oscar L., Guo, Li, Collins, Ryan L., Fan, Xian, Wen, Jia, Handsaker, Robert E., Fairley, Susan, Kronenberg, Zev N., Kong, Xiangmeng, Hormozdiari, Fereydoun, Lee, Dillon, Wenger, Aaron M., Hastie, Alex R., Antaki, Danny, Anantharaman, Thomas, Audano, Peter A., Brand, Harrison, Cantsilieris, Stuart, Cao, Han, Cerveira, Eliza, Chen, Chong, Chen, Xintong, Chin, Chen-Shan, Chong, Zechen, Chuang, Nelson T., Lambert, Christine C., Church, Deanna M., Clarke, Laura, Farrell, Andrew, Flores, Joey, Galeev, Timur, Gorkin, David U., Gujral, Madhusudan, Guryev, Victor, Heaton, William Haynes, Korlach, Jonas, Kumar, Sushant, Kwon, Jee Young, Lam, Ernest T., Lee, Jong Eun, Lee, Joyce, Lee, Wan-Ping, Lee, Sau Peng, Li, Shantao, Marks, Patrick, Viaud-Martinez, Karine, Meiers, Sascha, Munson, Katherine M., Navarro, Fabio C. P., Nelson, Bradley J., Nodzak, Conor, Noor, Amina, Kyriazopoulou-Panagiotopoulou, Sofia, Pang, Andy W. C., Qiu, Yunjiang, Rosanio, Gabriel, Ryan, Mallory, Stütz, Adrian, Spierings, Diana C. J., Ward, Alistair, Welch, AnneMarie E., Xiao, Ming, Xu, Wei, Zhang, Chengsheng, Zhu, Qihui, Zheng-Bradley, Xiangqun, Lowy, Ernesto, Yakneen, Sergei, McCarroll, Steven, Jun, Goo, Ding, Li, Koh, Chong Lek, Ren, Bing, Flicek, Paul, Chen, Ken, Gerstein, Mark B., Kwok, Pui-Yan, Lansdorp, Peter M., Marth, Gabor T., Sebat, Jonathan, Shi, Xinghua, Bashir, Ali, Ye, Kai, Devine, Scott E., Talkowski, Michael E., Mills, Ryan E., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E., Lee, Charles

Volltext

High-resolution comparative analysis of great ape genomes von Kronenberg, Zev N, Fiddes, Ian T, Gordon, David, Murali, Shwetha, Cantsilieris, Stuart, Meyerson, Olivia S, Underwood, Jason G, Nelson, Bradley J, Chaisson, Mark J P, Dougherty, Max L, Munson, Katherine M, Hastie, Alex R, Diekhans, Mark, Hormozdiari, Fereydoun, Lorusso, Nicola, Hoekzema, Kendra, Qiu, Ruolan, Clark, Karen, Raja, Archana, Welch, AnneMarie E, Sorensen, Melanie, Baker, Carl, Fulton, Robert S, Armstrong, Joel, Graves-Lindsay, Tina A, Denli, Ahmet M, Hoppe, Emma R, Hsieh, PingHsun, Hill, Christopher M, Pang, Andy Wing Chun, Lee, Joyce, Lam, Ernest T, Dutcher, Susan K, Gage, Fred H, Warren, Wesley C, Shendure, Jay, Haussler, David, Schneider, Valerie A, Cao, Han, Ventura, Mario, Wilson, Richard K, Paten, Benedict, Pollen, Alex, Eichler, Evan E

Volltext

Human-specific tandem repeat expansion and differential gene expression during primate evolution von Sulovari, Arvis, Li, Ruiyang, Audano, Peter A., Porubsky, David, Vollger, Mitchell R., Logsdon, Glennis A., Warren, Wesley C., Pollen, Alex A., Chaisson, Mark J. P., Eichler, Evan E.

Volltext

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses von Rius, Rocio, Compton, Alison G., Baker, Naomi L., Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kirsten, Boughtwood, Tiffany, Braithwaite, Jeffrey, Bratkovic, Drago, Bray, Alessandra, Brion, Marie-Jo, Burke, Jo, Casauria, Sarah, Chong, Belinda, Coman, David, Cowie, Shannon, Cowley, Mark, de Silva, Michelle G., Delatycki, Martin B., Edwards, Samantha, Ellaway, Carolyn, Fahey, Michael C., Finlay, Keri, Fletcher, Janice, Frajman, Leah E., Frazier, Ann E., Gayevskiy, Velimir, Ghaoui, Roula, Goel, Himanshu, Goranitis, Ilias, Haas, Matilda, Hock, Daniella H., Howting, Denise, Jackson, Matilda R., Kava, Maina P., Kemp, Madonna, King-Smith, Sarah, Lake, Nicole J., Lamont, Phillipa J., Lee, Joy, Long, Janet C., MacShane, Mandi, Madelli, Evanthia O., Martin, Ellenore M., Marum, Justine E., Mattiske, Tessa, McGill, Jim, Metke, Alejandro, Murray, Sean, Panetta, Julie, Phillips, Liza K., Quinn, Michael C.J., Ryan, Michael T., Schenscher, Sarah, Simons, Cas, Smith, Nicholas, Stroud, David A., Tchan, Michel C., Tom, Melanie, Wallis, Mathew, Ware, Tyson L., Welch, AnneMarie E., Wools, Christine, Wu, You, Christodoulou, John, Thorburn, David R.

Volltext

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus von Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Vermeulen, R. Jeroen, Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.

Volltext

Disposable Autonomous Device for Rapid Swab-to-Result Diagnosis of Influenza von Huang, Shichu, Abe, Koji, Bennett, Steven, Liang, Tinny, Ladd, Paula D., Yokobe, Lindsay, Anderson, Caitlin E., Shah, Kamal, Bishop, Josh, Purfield, Mike, Kauffman, Peter C., Paul, Sai, Welch, AnneMarie E., Strelitz, Bonnie, Follmer, Kristin, Pullar, Kelsey, Sanchez-Erebia, Luis, Gerth-Guyette, Emily, Domingo, Gonzalo, Klein, Eileen, Englund, Janet A., Fu, Elain, Yager, Paul

Volltext

Additional file 2 of An evolutionary driver of interspersed segmental duplications in primates von Cantsilieris, Stuart, Sunkin, Susan M., Johnson, Matthew E., Anaclerio, Fabio, Huddleston, John, Baker, Carl, Dougherty, Max L., Underwood, Jason G., Sulovari, Arvis, PingHsun Hsieh, Yafei Mao, Catacchio, Claudia Rita, Malig, Maika, AnneMarie E. Welch, Sorensen, Melanie, Munson, Katherine M., Weihong Jiang, Santhosh Girirajan, Ventura, Mario, Lamb, Bruce T., Conlon, Ronald A., Eichler, Evan E.

Volltext bestellen

Physical, cognitive, and mental health impacts of COVID-19 after hospitalisation (PHOSP-COVID): a UK multicentre, prospective cohort study von Howard, Luke, Abel, K, Altmann, D, Angyal, A, Ashworth, M, Assefa-Kebede, H, Baldry, E, Baldwin, D, Barratt, S, Bishop, L, Broome, M, Brown, M, Burns, G, Chetham, L, Choudhury, G, Coburn, Z, Cole, J, Connor, L, Coupland, C, Cross, A, Dalton, M, Davies, G A, Deakin, B, Defres, S, Diver, S, Dobson, S L, Drain, S, Fairbairn, S, Glossop, J, Greenhalgh, A, Gupta, A, Haggar, A, Harris, V, Harrison, E M, Hart, N, Heller, S, Hosseini, A, Hufton, E, Hussell, T, Ient, A, Ingram, L, Jacob, J, Johnston, D, Kausar, Z, Kelly, S, Khan, F, Korszun, A, Kwan, J, Laing, C, Lamlum, H, Lawrie, A, Lim, L, Lipman, M, Mackay, C, Man, W, Mayet, J, McAuley, H J C, McCann, G P, Mcgarvey, L, McGinness, J, McGuinness, H, McIvor, E, McNarry, M, Mitchell, J, Mohamed, A, Molyneaux, P L, Newell, H, Nicoll, D, Openshaw, P J M, Paradowski, K, Pariante, C, Pendlebury, J, Plekhanova, T, Quint, J, Qureshi, H, Rahman, N, Richardson, M, Rowland, M J, Russell, E, Sage, E K, Shaw, V, Southern, D, Spencer, L G, Stadon, L, Stockley, J, Storrie, A, Summers, C, Taylor, C, Turtle, L, Ugwuoke, R, Wall, E, Watson, J, Welch, C, Wilkinson, D, Williams-Howard, S A, Willis, G, Witham, M, Woods, J, Yasmin, S, Yousuf, A J

Volltext

Prevalence of physical frailty, including risk factors, up to 1 year after hospitalisation for COVID-19 in the UK: a multicentre, longitudinal cohort study von McAuley, Hamish JC, Evans, Rachael A, Bolton, Charlotte E, Brightling, Christopher E, Chalmers, James D, Docherty, Annemarie B, Elneima, Omer, Greenhaff, Paul L, Gupta, Ayushman, Harris, Victoria C, Harrison, Ewen M, Ho, Ling-Pei, Horsley, Alex, Houchen-Wolloff, Linzy, Jolley, Caroline J, Leavy, Olivia C, Lone, Nazir I, Man, William D-C, Marks, Michael, Parekh, Dhruv, Poinasamy, Krisnah, Quint, Jennifer K, Raman, Betty, Richardson, Matthew, Saunders, Ruth M, Sereno, Marco, Shikotra, Aarti, Singapuri, Amisha, Singh, Sally J, Steiner, Michael, Tan, Ai Lyn, Wain, Louise V, Welch, Carly, Whitney, Julie, Witham, Miles D, Lord, Janet, Greening, Neil J, PHOSP-COVID Study Collaborative Group

Volltext

Association of Hospital Resource Utilization With Neurodevelopmental Outcomes in Neonates With Hypoxic-Ischemic Encephalopathy von Quinones Cardona, Vilmaris, Rao, Rakesh, Zaniletti, Isabella, Joe, Priscilla, Johnson, Yvette R, DiGeronimo, Robert, Hamrick, Shannon E, Lee, Kyong-Soon, Mietzsch, Ulrike, Natarajan, Girija, Peeples, Eric S, Wu, Tai-Wei, Hossain, Tanzeema, Flibotte, John, Chandel, Amit, Distler, Amy, Shenberger, Jeffrey S, Oghifobibi, Onome, Massaro, An N, Dizon, Maria L V

Volltext

Prevalence of physical frailty, including risk factors, up to 1 year after hospitalisation for COVID-19 in the UK: a multicentre, longitudinal cohort study von McAuley, Hamish JC, Evans, Rachael A, Bolton, Charlotte E, Brightling, Christopher E, Chalmers, James D, Docherty, Annemarie B, Elneima, Omer, Greenhaff, Paul L, Gupta, Ayushman, Harris, Victoria C, Harrison, Ewen M, Ho, Ling-Pei, Horsley, Alex, Houchen-Wolloff, Linzy, Jolley, Caroline J, Leavy, Olivia C, Lone, Nazir I, Man, William D-C, Marks, Michael, Parekh, Dhruv, Poinasamy, Krisnah, Quint, Jennifer K, Raman, Betty, Richardson, Matthew, Saunders, Ruth M, Sereno, Marco, Shikotra, Aarti, Singapuri, Amisha, Singh, Sally J, Steiner, Michael, Tan, Ai Lyn, Wain, Louise V, Welch, Carly, Whitney, Julie, Witham, Miles D, Lord, Janet, Greening, Neil J, PHOSP-COVID Study Collaborative Group

Volltext bestellen

Prevalence of physical frailty, including risk factors, up to 1 year after hospitalisation for COVID-19 in the UK: a multicentre, longitudinal cohort study von McAuley, Hamish JC, Evans, Rachael A, Bolton, Charlotte E, Brightling, Christopher E, Chalmers, James D, Docherty, Annemarie B, Elneima, Omer, Greenhaff, Paul L, Gupta, Ayushman, Harris, Victoria C, Harrison, Ewen M, Ho, Ling-Pei, Horsley, Alex, Houchen-Wolloff, Linzy, Jolley, Caroline J, Leavy, Olivia C, Lone, Nazir I, Man, William D-C, Marks, Michael, Parekh, Dhruv, Poinasamy, Krisnah, Quint, Jennifer K, Raman, Betty, Richardson, Matthew, Saunders, Ruth M, Sereno, Marco, Shikotra, Aarti, Singapuri, Amisha, Singh, Sally J, Steiner, Michael, Tan, Ai Lyn, Wain, Louise V, Welch, Carly, Whitney, Julie, Witham, Miles D, Lord, Janet, Greening, Neil J, PHOSP-COVID Study Collaborative Group

Volltext bestellen

Further delineation of Weaver syndrome von Ardinger, Holly H., Hanson, James W., Harrod, Mary Jo E., Cohen, M. Michael, Tibbles, John A.R., Welch, J. Philip, Young-Wee, Theresa, Sommer, Annemarie, Goldberg, Rosalie, Shprintzen, Robert J., Sidoti, Eugene J., Leichtman, Lawrence G., Hoyme, H. Eugene

Volltext