Extended regions of suspected mis-assembly in the rat reference genome

por Ramdas, Shweta, Ozel, Ayse Bilge, Treutelaar, Mary K., Holl, Katie, Mandel, Myrna, Woods, Leah C. Solberg, Li, Jun Z.
Publicado 2019

SAT-291 SIX3 Is Essential for Hypothalamic and Pituitary Development

por Bando, Hironori, Brinkmeier, Michelle L, Castinetti, Frederic, Gergics, Peter, Mortensen, Amanda H, Ozel, Ayse Bilge, Ma, Qianyi, Li, Jun Z, Brue, Thierry, Camper, Sally A
Publicado 2020

SIX3 Variant Causes Pituitary Stalk Interruption Syndrome and Combined Pituitary Hormone Deficiency

por Bando, Hironori, Brinkmeier, Michelle, Gergics, Peter, Fang, Qing, Mortensen, Amanda Helen, Ozel, Ayse Bilge, Ma, Qianyi, Li, Jun, Reynaud, Rachel, Castinetti, Frederic, Brue, Thierry Christian, Camper, Sally Ann
Publicado 2021

The phenotypic spectrum associated with OTX2 mutations in humans

por Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T
Publicado 2021

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

por Garnai, Sarah J., Brinkmeier, Michelle L., Emery, Ben, Aleman, Tomas S., Pyle, Louise C., Veleva-Rotse, Biliana, Sisk, Robert A., Rozsa, Frank W., Ozel, Ayse Bilge, Li, Jun Z., Moroi, Sayoko E., Archer, Steven M., Lin, Cheng-mao, Sheskey, Sarah, Wiinikka-Buesser, Laurel, Eadie, James, Urquhart, Jill E., Black, Graeme C.M., Othman, Mohammad I., Boehnke, Michael, Sullivan, Scot A., Skuta, Gregory L., Pawar, Hemant S., Katz, Alexander E., Huryn, Laryssa A., Hufnagel, Robert B., Camper, Sally A., Richards, Julia E., Prasov, Lev
Publicado 2019

Increased soluble urokinase plasminogen activator levels modulate monocyte function to promote atherosclerosis

por Hindy, George, Tyrrell, Daniel J., Vasbinder, Alexi, Wei, Changli, Presswalla, Feriel, Wang, Hui, Blakely, Pennelope, Ozel, Ayse Bilge, Graham, Sarah, Holton, Grace H., Dowsett, Joseph, Fahed, Akl C., Amadi, Kingsley-Michael, Erne, Grace K., Tekmulla, Annika, Ismail, Anis, Launius, Christopher, Sotoodehnia, Nona, Pankow, James S., Thørner, Lise Wegner, Erikstrup, Christian, Pedersen, Ole Birger, Banasik, Karina, Brunak, Søren, Ullum, Henrik, Eugen-Olsen, Jesper, Ostrowski, Sisse Rye, Haas, Mary E., Nielsen, Jonas B., Lotta, Luca A., Engström, Gunnar, Melander, Olle, Orho-Melander, Marju, Zhao, Lili, Murthy, Venkatesh L., Pinsky, David J., Willer, Cristen J., Heckbert, Susan R., Reiser, Jochen, Goldstein, Daniel R., Desch, Karl C., Hayek, Salim S.
Publicado 2022

A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats*

por de Jong, Tristan V, Pan, Yanchao, Rastas, Pasi, Munro, Daniel, Tutaj, Monika, Akil, Huda, Benner, Chris, Chen, Denghui, Chitre, Apurva S, Chow, William, Colonna, Vincenza, Dalgard, Clifton L, Demos, Wendy M, Doris, Peter A, Garrison, Erik, Geurts, Aron M, Gunturkun, Hakan M, Guryev, Victor, Hourlier, Thibaut, Howe, Kerstin, Huang, Jun, Kalbfleisch, Ted, Kim, Panjun, Li, Ling, Mahaffey, Spencer, Martin, Fergal J, Mohammadi, Pejman, Ozel, Ayse Bilge, Polesskaya, Oksana, Pravenec, Michal, Prins, Pjotr, Sebat, Jonathan, Smith, Jennifer R, Solberg Woods, Leah C, Tabakoff, Boris, Tracey, Alan, Uliano-Silva, Marcela, Villani, Flavia, Wang, Hongyang, Sharp, Burt M, Telese, Francesca, Jiang, Zhihua, Saba, Laura, Wang, Xusheng, Murphy, Terence D, Palmer, Abraham A, Kwitek, Anne E, Dwinell, Melinda R, Williams, Robert W, Li, Jun Z, Chen, Hao
Publicado 2023