The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line

od Adey, Andrew, Burton, Joshua N., Kitzman, Jacob O., Hiatt, Joseph B., Lewis, Alexandra P., Martin, Beth K., Qiu, Ruolan, Lee, Choli, Shendure, Jay
Wydane 2013

Recurrent Somatic Loss of TNFRSF14 in Classical Hodgkin Lymphoma

od Salipante, Stephen J., Adey, Andrew, Thomas, Anju, Lee, Choli, Liu, Yajuan J., Kumar, Akash, Lewis, Alexandra P., Wu, David, Fromm, Jonathan R., Shendure, Jay
Wydane w Genes Chromosomes Cancer (2015)

Whole genome prediction for preimplantation genetic diagnosis

od Kumar, Akash, Ryan, Allison, Kitzman, Jacob O, Wemmer, Nina, Snyder, Matthew W, Sigurjonsson, Styrmir, Lee, Choli, Banjevic, Milena, Zarutskie, Paul W, Lewis, Alexandra P, Shendure, Jay, Rabinowitz, Matthew
Wydane w Genome Med (2015)

Non-Invasive Fetal Genome Sequencing: Opportunities and Challenges

od Tabor, Holly K., Murray, Jeffrey C., Gammill, Hilary S., Kitzman, Jacob O., Snyder, Matthew W., Ventura, Mario, Lewis, Alexandra P., Qiu, Ruolan, Simmons, LaVone E., Rubens, Craig E., Santillan, Donna A., Eichler, Evan E., Bamshad, Michael J., Shendure, Jay
Wydane 2012

Non-invasive whole genome sequencing of a human fetus

od Kitzman, Jacob O., Snyder, Matthew W., Ventura, Mario, Lewis, Alexandra P., Qiu, Ruolan, Simmons, LaVone E., Gammill, Hilary S., Rubens, Craig E., Santillan, Donna A., Murray, Jeffrey C., Tabor, Holly K., Bamshad, Michael J., Eichler, Evan E., Shendure, Jay
Wydane 2012

Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes

od Hsieh, PingHsun, Vollger, Mitchell R., Dang, Vy, Porubsky, David, Baker, Carl, Cantsilieris, Stuart, Hoekzema, Kendra, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Kronenberg, Zev N., Murali, Shwetha, Nelson, Bradley J., Chiatante, Giorgia, Maggiolini, Flavia Angela Maria, Blanché, Hélène, Underwood, Jason G., Antonacci, Francesca, Deleuze, Jean-François, Eichler, Evan E.
Wydane w Science (2019)

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

od Knowles, Michael R., Leigh, Margaret W., Ostrowski, Lawrence E., Huang, Lu, Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Berg, Jonathan S., Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Rosenfeld, Margaret, Sagel, Scott D., Milla, Carlos E., Olivier, Kenneth N., Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Shendure, Jay, Zariwala, Maimoona A.
Wydane 2013

A high-quality bonobo genome refines the analysis of hominid evolution

od Mao, Yafei, Catacchio, Claudia R., Hillier, LaDeana W., Porubsky, David, Li, Ruiyang, Sulovari, Arvis, Fernandes, Jason D., Montinaro, Francesco, Gordon, David S., Storer, Jessica M., Haukness, Marina, Fiddes, Ian T., Murali, Shwetha Canchi, Dishuck, Philip C., Hsieh, PingHsun, Harvey, William T., Audano, Peter A., Mercuri, Ludovica, Piccolo, Ilaria, Antonacci, Francesca, Munson, Katherine M., Lewis, Alexandra P., Baker, Carl, Underwood, Jason G., Hoekzema, Kendra, Huang, Tzu-Hsueh, Sorensen, Melanie, Walker, Jerilyn A., Hoffman, Jinna, Thibaud-Nissen, Françoise, Salama, Sofie R., Pang, Andy W. C., Lee, Joyce, Hastie, Alex R., Paten, Benedict, Batzer, Mark A., Diekhans, Mark, Ventura, Mario, Eichler, Evan E.
Wydane w Nature (2021)

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

od Knowles, Michael R., Ostrowski, Lawrence E., Loges, Niki T., Hurd, Toby, Leigh, Margaret W., Huang, Lu, Wolf, Whitney E., Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Wallmeier, Julia, Pennekamp, Petra, Dougherty, Gerard W., Hjeij, Rim, Gee, Heon Yung, Otto, Edgar A., Halbritter, Jan, Chaki, Moumita, Diaz, Katrina A., Braun, Daniela A., Porath, Jonathan D., Schueler, Markus, Baktai, György, Griese, Matthias, Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Hildebrandt, Friedhelm, Shendure, Jay, Omran, Heymut, Zariwala, Maimoona A.
Wydane 2013

Sequence diversity analyses of an improved rhesus macaque genome enhances its biomedical utility

od Warren, Wesley C., Harris, R. Alan, Haukness, Marina, Fiddes, Ian T., Murali, Shwetha C., Fernandes, Jason, Dishuck, Philip C., Storer, Jessica M., Raveendran, Muthuswamy, Hillier, LaDeana W., Porubsky, David, Mao, Yafei, Gordon, David, Vollger, Mitchell R., Lewis, Alexandra P., Munson, Katherine M., DeVogelaere, Elizabeth, Armstrong, Joel, Diekhans, Mark, Walker, Jerilyn A., Tomlinson, Chad, Graves-Lindsay, Tina A., Kremitzki, Milinn, Salama, Sofie R., Audano, Peter A., Escalona, Merly, Maurer, Nicholas W., Antonacci, Francesca, Mercuri, Ludovica, Maggiolini, Flavia A.M., Catacchio, Claudia Rita, Underwood, Jason G., O’Connor, David H., Sanders, Ashley D., Korbel, Jan O., Ferguson, Betsy, Kubisch, H. Michael, Picker, Louis, Kalin, Ned H., Rosene, Douglas, Levine, Jon, Abbott, David H., Gray, Stanton B., Sanchez, Mar M., Kovacs-Balint, Zsofia A., Kemnitz, Joseph W., Thomasy, Sara M., Roberts, Jeffrey A., Kinnally, Erin L., Capitanio, John P., Skene, J.H. Pate, Platt, Michael, Cole, Shelley A., Green, Richard E., Ventura, Mario, Wiseman, Roger W., Paten, Benedict, Batzer, Mark A., Rogers, Jeffrey, Eichler, Evan E.
Wydane w Science (2020)

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

od Ebert, Peter, Audano, Peter A., Zhu, Qihui, Rodriguez-Martin, Bernardo, Porubsky, David, Bonder, Marc Jan, Sulovari, Arvis, Ebler, Jana, Zhou, Weichen, Mari, Rebecca Serra, Yilmaz, Feyza, Zhao, Xuefang, Hsieh, PingHsun, Lee, Joyce, Kumar, Sushant, Lin, Jiadong, Rausch, Tobias, Chen, Yu, Ren, Jingwen, Santamarina, Martin, Höps, Wolfram, Ashraf, Hufsah, Chuang, Nelson T., Yang, Xiaofei, Munson, Katherine M., Lewis, Alexandra P., Fairley, Susan, Tallon, Luke J., Clarke, Wayne E., Basile, Anna O., Byrska-Bishop, Marta, Corvelo, André, Evani, Uday S., Lu, Tsung-Yu, Chaisson, Mark J.P., Chen, Junjie, Li, Chong, Brand, Harrison, Wenger, Aaron M., Ghareghani, Maryam, Harvey, William T., Raeder, Benjamin, Hasenfeld, Patrick, Regier, Allison A., Abel, Haley J., Hall, Ira M., Flicek, Paul, Stegle, Oliver, Gerstein, Mark B., Tubio, Jose M.C., Mu, Zepeng, Li, Yang I., Shi, Xinghua, Hastie, Alex R., Ye, Kai, Chong, Zechen, Sanders, Ashley D., Zody, Michael C., Talkowski, Michael E., Mills, Ryan E., Devine, Scott E., Lee, Charles, Korbel, Jan O., Marschall, Tobias, Eichler, Evan E.
Wydane w Science (2021)