Search Results - Vargas-Hernandez, Alexander
- Showing 1 - 11 results of 11
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Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma by Henrickson, Sarah E., Dolan, Joseph G., Forbes, Lisa R., Vargas-Hernández, Alexander, Nishimura, Shiho, Okada, Satoshi, Kersun, Leslie S., Brodeur, Garrett M., Heimall, Jennifer R.
Published 2019Text -
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High-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adults by Mahapatra, Sanjana, Mace, Emily M., Minard, Charles G., Forbes, Lisa R., Vargas-Hernandez, Alexander, Duryea, Teresa K., Makedonas, George, Banerjee, Pinaki P., Shearer, William T., Orange, Jordan S.
Published 2017Text -
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A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome by Chaimowitz, Natalia S., Branch, Justin, Reyes, Anaid, Vargas-Hernández, Alexander, Orange, Jordan S., Forbes, Lisa R., Ehlayel, Mohammed, Purayil, Saleema C., Al-Nesf, Maryam Ali, Vogel, Tiphanie P.
Published 2019Text -
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Human STAT5b mutation causes dysregulated human natural killer cell maturation and impaired lytic function. by Vargas-Hernández, Alexander, Witalisz-Siepracka, Agnieszka, Prchal-Murphy, Michaela, Klein, Klara, Mahapatra, Sanjana, Al-Herz, Waleed, Mace, Emily M., Carisey, Alexandre F., Orange, Jordan S, Sexl, Veronika, Forbes, Lisa R.
Published 2019Text -
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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome by Aird, Alejandra, Lagos, Macarena, Vargas-Hernández, Alexander, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini, Mace, Emily M., Reyes, Anaid, King, Alejandra, Cavagnaro, Felipe, Forbes, Lisa R., Chinn, Ivan K., Lupski, James R., Orange, Jordan S., Poli, Maria Cecilia
Published 2019Text -
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Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment by Ruiz-García, Raquel, Vargas-Hernandez, Alexander, Chinn, Ivan K., Angelo, Laura S., Cao, Tram N., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Meng, Qingchang, Forbes, Lisa R., Muzny, Donna M., Allende, Luis M., Ehlayel, Mohammed S., Gibbs, Richard A., Lupski, James R., Uzel, Gulbu, Orange, Jordan S., Mace, Emily M.
Published 2018Text -
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Ruxolitinib partially reverses functional NK cell deficiency in patients with STAT1 gain-of-function mutations by Vargas-Hernandez, Alexander, Mace, Emily M., Zimmerman, Ofer, Zerbe, Christa S., Freeman, Alexandra F., Rosenzweig, Sergio, Leiding, Jennifer W., Torgerson, Troy, Altman, Matthew C., Schussler, Edith, Cunningham-Rundles, Charlotte, Chinn, Ivan K., Carisey, Alexandre F., Hanson, Imelda C., Rider, Nicholas L., Holland, Steven M., Orange, Jordan S., Forbes, Lisa R.
Published 2017Text -
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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID by Kuhny, Marcel, Forbes, Lisa R., Çakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K., Glauzy, Salomé, Stray-Pedersen, Asbjorg, Pezzi, Ashley E., Hanson, I. Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Chinn, Ivan K., Schatz, David G., Orange, Jordan S., Meffre, Eric
Published 2020Text -
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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease by Cook, Sarah A., Comrie, William A., Poli, M. Cecilia, Similuk, Morgan, Oler, Andrew J., Faruqi, Aiman J., Kuhns, Douglas B., Yang, Sheng, Vargas-Hernández, Alexander, Carisey, Alexandre F., Fournier, Benjamin, Anderson, D. Eric, Price, Susan, Smelkinson, Margery, Abou Chahla, Wadih, Forbes, Lisa R., Mace, Emily M., Cao, Tram N., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Cuvelier, Geoffrey D.E., Al Hassani, Moza, AL Kaabi, Nawal, Al Yafei, Zain, Jyonouchi, Soma, Raje, Nikita, Caldwell, Jason W., Huang, Yanping, Burkhardt, Janis K., Latour, Sylvain, Chen, Baoyu, ElGhazali, Gehad, Rao, V. Koneti, Chinn, Ivan K., Lenardo, Michael J.
Published 2020Text -
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Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations by Milner, Joshua D., Vogel, Tiphanie P., Forbes, Lisa, Ma, Chi A., Stray-Pedersen, Asbjørg, Niemela, Julie E., Lyons, Jonathan J., Engelhardt, Karin R., Zhang, Yu, Topcagic, Nermina, Roberson, Elisha D. O., Matthews, Helen, Verbsky, James W., Dasu, Trivikram, Vargas-Hernandez, Alexander, Varghese, Nidhy, McClain, Kenneth L., Karam, Lina B., Nahmod, Karen, Makedonas, George, Mace, Emily M., Sorte, Hanne S., Perminow, Gøri, Rao, V. Koneti, O’Connell, Michael P., Price, Susan, Su, Helen C., Butrick, Morgan, McElwee, Joshua, Hughes, Jason D., Willet, Joseph, Swan, David, Xu, Yaobo, Santibanez-Koref, Mauro, Slowik, Voytek, Dinwiddie, Darrell L., Ciaccio, Christina E., Saunders, Carol J., Septer, Seth, Kingsmore, Stephen F., White, Andrew J., Cant, Andrew J., Hambleton, Sophie, Cooper, Megan A.
Published 2015Text