Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

por Byun, Minji, Abhyankar, Avinash, Lelarge, Virginie, Plancoulaine, Sabine, Palanduz, Ayse, Telhan, Leyla, Boisson, Bertrand, Picard, Capucine, Dewell, Scott, Zhao, Connie, Jouanguy, Emmanuelle, Feske, Stefan, Abel, Laurent, Casanova, Jean-Laurent
Publicado 2010

A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

por Bolze, Alexandre, Abhyankar, Avinash, Grant, Audrey V., Patel, Bhavi, Yadav, Ruchi, Byun, Minji, Caillez, Daniel, Emile, Jean-Francois, Pastor-Anglada, Marçal, Abel, Laurent, Puel, Anne, Govindarajan, Rajgopal, de Pontual, Loic, Casanova, Jean-Laurent
Publicado 2012

DNMT3A haploinsufficiency causes dichotomous DNA methylation defects at enhancers in mature human immune cells

por Lim, Jung-Yeon, Duttke, Sascha H., Baker, Turner S., Lee, Jihye, Gambino, Kristyne J., Venturini, Nicholas J., Ho, Jessica Sook Yuin, Zheng, Simin, Fstkchyan, Yesai S., Pillai, Vinodh, Fajgenbaum, David C., Marazzi, Ivan, Benner, Christopher, Byun, Minji
Publicado 2021

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

por Byun, Minji, Ma, Cindy S., Akçay, Arzu, Pedergnana, Vincent, Palendira, Umaimainthan, Myoung, Jinjong, Avery, Danielle T., Liu, Yifang, Abhyankar, Avinash, Lorenzo, Lazaro, Schmidt, Monika, Lim, Hye Kyung, Cassar, Olivier, Migaud, Melanie, Rozenberg, Flore, Canpolat, Nur, Aydoğan, Gönül, Fleckenstein, Bernhard, Bustamante, Jacinta, Picard, Capucine, Gessain, Antoine, Jouanguy, Emmanuelle, Cesarman, Ethel, Olivier, Martin, Gros, Philippe, Abel, Laurent, Croft, Michael, Tangye, Stuart G., Casanova, Jean-Laurent
Publicado 2013

TOP1 inhibition therapy protects against SARS-CoV-2-induced lethal inflammation

por Ho, Jessica Sook Yuin, Mok, Bobo Wing-Yee, Campisi, Laura, Jordan, Tristan, Yildiz, Soner, Parameswaran, Sreeja, Wayman, Joseph A., Gaudreault, Natasha N., Meekins, David A., Indran, Sabarish V., Morozov, Igor, Trujillo, Jessie D., Fstkchyan, Yesai S., Rathnasinghe, Raveen, Zhu, Zeyu, Zheng, Simin, Zhao, Nan, White, Kris, Ray-Jones, Helen, Malysheva, Valeriya, Thiecke, Michiel J., Lau, Siu-Ying, Liu, Honglian, Zhang, Anna Junxia, Lee, Andrew Chak-Yiu, Liu, Wen-Chun, Jangra, Sonia, Escalera, Alba, Aydillo, Teresa, Melo, Betsaida Salom, Guccione, Ernesto, Sebra, Robert, Shum, Elaine, Bakker, Jan, Kaufman, David A., Moreira, Andre L., Carossino, Mariano, Balasuriya, Udeni B.R., Byun, Minji, Albrecht, Randy A., Schotsaert, Michael, Garcia-Sastre, Adolfo, Chanda, Sumit K., Miraldi, Emily R., Jeyasekharan, Anand D., TenOever, Benjamin R., Spivakov, Mikhail, Weirauch, Matthew T., Heinz, Sven, Chen, Honglin, Benner, Christopher, Richt, Juergen A., Marazzi, Ivan
Publicado 2021