Not logged in IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes Wang, Chen; Marciano, Beatriz E.; Harris, Annalie J.; Johnston, Alicia M.; Apaydin Arikan, Evsen; Bayer, Diana K.; Solomon, Benjamin D.; Price, Nathan B.; Platt, Craig D.; Modi, Arunkumar J.; Shaker, Marcus S.; Seroogy, Christine M.; Johnson, Daniel; Kleiner, David E.; Chirombo Kluczynski, Lavenda; Anderson, Victoria L.; Daub, Janine R.; Berghout, Joanne; Oler, Andrew J.; Walkiewicz, Magdalena A.; Similuk, Morgan; Lewis, David B.; Galgiani, John N.; Freeman, Alexandra F.; Rosen, Lindsey B.; Hsu, Amy P.; Zerbe, Christa S.; Holland, Steven M. Share Save
Share Save
Interferon-γ Therapy in Patients With Refractory Disseminated Coccidioidomycosis Wang, Chen; LaBere, Brenna A.; Chinga, Michell M. Lozano; Harris, Annalie J.; Rosen, Lindsey B.; Rivera, Amanda Elias; Le Run, Eva; Sacco, Keith A.; Ballan, Wassim; Woodward, James, V; Ostdiek, Scott A.; Smith, Matthew W.; Anderson, Victoria L.; Daub, Janine R.; Palmer, Cindy L.; Kluczynski, Lavenda Chirombo; Oler, Andrew J.; Walkiewicz, Magdalena A.; Ghosh, Rajarshi; Similuk, Morgan; Donovan, Fariba M.; Witt, John; Barros, Nicolas; Wheat, L. Joseph; Galgiani, John N.; Freeman, Alexandra F.; Hsu, Amy P.; Zerbe, Christa S.; Holland, Steven M. Share Save
Share Save
Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome Larsen, Isabella G.; Moses, Rachel Gore; Seifert, Bryce A.; Liu, Siyuan; Li, Samuel; Oler, Andrew J.; Levitis, Elizabeth; Schaffer, Lukas; Duncan, Rylee; Jodarski, Colleen; Kamen, Michael; Yan, Jia; Ghosh, Rajarshi; Torres, Erin; Clasen, Liv S.; Blumenthal, Jonathan; Similuk, Morgan; Raznahan, Armin; Walkiewicz, Magdalena A. Share Save
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion Ochoa, Sebastian; Hsu, Amy P.; Oler, Andrew J.; Kumar, Dhaneshwar; Chauss, Daniel; van Hamburg, Jan Piet; van Laar, Gustaaf G.; Oikonomou, Vasileios; Ganesan, Sundar; Ferre, Elise M. N.; Schmitt, Monica M.; Dimaggio, Tom; Barber, Princess; Constantine, Gregory M.; Rosen, Lindsey B.; Auwaerter, Paul G.; Gandhi, Bhumika; Miller, Jennifer L.; Eisenberg, Rachel; Rubinstein, Arye; Schussler, Edith; Balliu, Erjola; Shashi, Vandana; Neth, Olaf; Olbrich, Peter; Le, Kim My; Mamia, Nanni; Laakso, Saila; Nevalainen, Pasi I.; Groenholm, Juha; Seppaenen, Mikko R. J.; Boon, Louis; Uzel, Gulbu; Franco, Luis M.; Heller, Theo; Winer, Karen K.; Ghosh, Rajarshi; Seifert, Bryce A.; Walkiewicz, Magdalena; Notarangelo, Luigi D.; Zhou, Qing; Askentijevich, Ivona; Gahl, William; Dalgard, Cliffton L.; Perera, Lalith; Afzali, Behdad; Tas, Sander W.; Holland, Steven M.; Lionakis, Michail S. Share Save
Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals Delmonte, Ottavia M.; Oguz, Cihan; Dobbs, Kerry; Myint-Hpu, Katherine; Palterer, Boaz; Abers, Michael S.; Draper, Deborah; Truong, Meng; Kaplan, Ian M.; Gittelman, Rachel M.; Zhang, Yu; Rosen, Lindsey B.; Snow, Andrew L.; Dalgard, Clifton L.; Burbelo, Peter D.; Imberti, Luisa; Sottini, Alessandra; Quiros-Roldan, Eugenia; Castelli, Francesco; Rossi, Camillo; Brugnoni, Duilio; Biondi, Andrea; Bettini, Laura Rachele; D'Angio, Mariella; Bonfanti, Paolo; Anderson, Megan, V; Saracino, Annalisa; Chironna, Maria; Di Stefano, Mariantonietta; Fiore, Jose Ramon; Santantonio, Teresa; Castagnoli, Riccardo; Marseglia, Gian Luigi; Magliocco, Mary; Bosticardo, Marita; Pala, Francesca; Shaw, Elana; Matthews, Helen; Weber, Sarah E.; Xirasagar, Sandhya; Barnett, Jason; Oler, Andrew J.; Dimitrova, Dimana; Bergerson, Jenna R. E.; Mcdermott, David H.; Rao, V. Koneti; Murphy, Philip M.; Holland, Steven M.; Lisco, Andrea; Su, Helen C.; Lionakis, Michail S.; Cohen, Jeffrey I.; Freeman, Alexandra F.; Snyder, Thomas M.; Lack, Justin; Notarangelo, Luigi D. Share Save
Norovirus evolves as one or more distinct clonal populations in immunocompromised hosts Chaimongkol, Natthawan; Dabilla, Nathania; Tohma, Kentaro; Matsushima, Yuki; Yardley, Allison Behrle; Levenson, Eric A.; Johnson, Jordan A.; Ahorrio, Courtney; Oler, Andrew J.; Kim, Daniel Y.; Souza, Menira; Sosnovtsev, Stanislav V.; Parra, Gabriel I.; Green, Kim Y. Share Save
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS) Papendorf, Jonas Johannes; Ebstein, Frederic; Alehashemi, Sara; Piotto, Daniela Gerent Petry; Kozlova, Anna; Terreri, Maria Teresa; Shcherbina, Anna; Rastegar, Andre; Rodrigues, Marta; Pereira, Renan; Park, Sophia; Lin, Bin; Uss, Kat; Moeller, Sophie; Pina, Ana Flavia da Silva; Sztajnbok, Flavio; Torreggiani, Sofia; Niemela, Julie; Stoddard, Jennifer; Rosenzweig, Sergio D.; Oler, Andrew J.; McNinch, Colton; de Guzman, Marietta M.; Fonseca, Adriana; Micheloni, Nicole; Fraga, Melissa Mariti; Perazzio, Sandro Felix; Goldbach-Mansky, Raphaela; de Jesus, Adriana A.; Krueger, Elke Share Save
Lack of Evidence for a Role of ACE-2 Polymorphisms as a Bedside Clinical Prognostic Marker of COVID-19 Fiore, Jose R.; Di Stefano, Mariantonietta; Oler, Andrew; Zhang, Yu; Gu, Jingwen; Dalgard, Clifton L.; Faleo, Giuseppina; Epling, Brian; Notarangelo, Luigi; Lisco, Andrea; Santantonio, Teresa A. Share Save
Share Save
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity Beers, Breanna J. J.; Similuk, Morgan N. N.; Ghosh, Rajarshi; Seifert, Bryce A. A.; Jamal, Leila; Kamen, Michael; Setzer, Michael R. R.; Jodarski, Colleen; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Cao, Wenjia; Bi, Weimin; Veltri, Daniel; Karlins, Eric; Zhang, Lingwen; Li, Zhiwen; Oler, Andrew J. J.; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Bielekova, Bibiana; Frischmeyer-Guerrerio, Pamela; Dang Do, An; Huryn, Laryssa A. D. A.; Olivier, Kenneth N. N.; Su, Helen C. C.; Lyons, Jonathan J. J.; Zerbe, Christa S. S.; Rao, V. Koneti; Keller, Michael D.; Freeman, Alexandra F. F.; Holland, Steven M. M.; Franco, Luis M. M.; Walkiewicz, Magdalena A. A.; Yan, Jia Share Save
Address correspondence to: Steven M. Holland, Phone: 301.402.7684; Email: smh@nih.gov. Hsu, Amy P.; Korzeniowska, Agnieszka; Aguilar, Cynthia C.; Gu, Jingwen; Karlins, Eric; Oler, Andrew J.; Chen, Gang; Reynoso, Glennys, V; Davis, Joie; Chaput, Alexandria; Peng, Tao; Sun, Ling; Lack, Justin B.; Bays, Derek J.; Stewart, Ethan R.; Waldman, Sarah E.; Powell, Daniel A.; Donovan, Fariba M.; Desai, Jigar, V; Pouladi, Nima; Priel, Debra A. Long; Yamanaka, Daisuke; Rosenzweig, Sergio D.; Niemela, Julie E.; Stoddard, Jennifer; Freeman, Alexandra F.; Zerbe, Christa S.; Kuhns, Douglas B.; Lussier, Yves A.; Olivier, Kenneth N.; Boucher, Richard C.; Hickman, Heather D.; Frelinger, Jeffrey; Fierer, Joshua; Shubitz, Lisa F.; Leto, Thomas L.; Thompson, George R., III; Galgiani, John N.; Lionakis, Michail S.; Holland, Steven M. Share Save
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis Drummond, Rebecca A.; Desai, Jigar V.; Hsu, Amy P.; Oikonomou, Vasileios; Vinh, Donald C.; Acklin, Joshua A.; Abers, Michael S.; Walkiewicz, Magdalena A.; Anzick, Sarah L.; Swamydas, Muthulekha; Vautier, Simon; Natarajan, Mukil; Oler, Andrew J.; Yamanaka, Daisuke; Mayer-Barber, Katrin D.; Iwakura, Yoichiro; Bianchi, David; Driscoll, Brian; Hauck, Ken; Kline, Ahnika; Viall, Nicholas S. P.; Zerbe, Christa S.; Ferre, Elise M. N.; Schmitt, Monica M.; DiMaggio, Tom; Pittaluga, Stefania; Butman, John A.; Zelazny, Adrian M.; Shea, Yvonne R.; Arias, Cesar A.; Ashbaugh, Cameron; Mahmood, Maryam; Temesgen, Zelalem; Theofiles, Alexander G.; Nigo, Masayuki; Moudgal, Varsha; Bloch, Karen C.; Kelly, Sean G.; Whitworth, M. Suzanne; Rao, Ganesh; Whitener, Cindy J.; Mafi, Neema; Gea-Banacloche, Juan; Kenyon, Lawrence C.; Miller, William R.; Boggian, Katia; Gilbert, Andrea; Sincock, Matthew; Freeman, Alexandra F.; Bennett, John E.; Hasbun, Rodrigo; Mikelis, Constantinos M.; Kwon-Chung, Kyung J.; Belkaid, Yasmine; Brown, Gordon D.; Lim, Jean K.; Kuhns, Douglas B.; Holland, Steven M.; Lionakis, Michail S. Share Save
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations Similuk, Morgan N.; Yan, Jia; Ghosh, Rajarshi; Oler, Andrew J.; Franco, Luis M.; Setzer, Michael R.; Kamen, Michael; Jodarski, Colleen; DiMaggio, Thomas; Davis, Joie; Gore, Rachel; Jamal, Leila; Borges, Adrienne; Gentile, Nicole; Niemela, Julie; Lowe, Chenery; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Hsu, Amy P.; Hong, Celine; Littel, Patricia; Seifert, Bryce A.; Milner, Joshua; Johnston, Jennifer J.; Cheng, Xi; Li, Zhiwen; Veltri, Daniel; Huang, Ke; Kaladi, Krishnaveni; Barnett, Jason; Zhang, Lingwen; Vlasenko, Nikita; Fan, Yongjie; Karlins, Eric; Ganakammal, Satishkumar Ranganathan; Gilmore, Robert; Tran, Emily; Yun, Alvin; Mackey, Joseph; Yazhuk, Svetlana; Lack, Justin; Kuram, Vasudev; Cao, Wenjia; Huse, Susan; Frank, Karen; Fahle, Gary; Rosenzweig, Sergio; Su, Yan; Hwang, SuJin; Bi, Weimin; Bennett, John; Myles, Ian A.; De Ravin, Suk See; Fuss, Ivan; Strober, Warren; Bielekova, Bibiana; de Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela; Williamson, Peter; Kumar, Kelly; Dempsy, Caeden; Frischmeyer-Guerrerio, Pamela; Fisch, Robin; Bolan, Hyejeong; Metcalfe, Dean D.; Komarow, Hirsh; Carter, Melody; Druey, Kirk M.; Sereti, Irini; Dropulic, Lesia; Klion, Amy D.; Khoury, Paneez; O' Connell, Elise M.; Holland-Thomas, Nicole C.; Brown, Thomas; McDermott, David H.; Murphy, Philip M.; Bundy, Vanessa; Keller, Michael D.; Peng, Christine; Kim, Helen; Norman, Stephanie; Delmonte, Ottavia M.; Kang, Elizabeth; Su, Helen C.; Malech, Harry; Freeman, Alexandra; Zerbe, Christa; Uzel, Gulbu; Bergerson, Jenna R. E.; Rao, V. Koneti; Olivier, Kenneth N.; Lyons, Jonathan J.; Lisco, Andrea; Cohen, Jeffrey, I; Lionakis, Michail S.; Biesecker, Leslie G.; Xirasagar, Sandhya; Notarangelo, Luigi D.; Holland, Steven M.; Walkiewicz, Magdalena A. Share Save
Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19 Carmona-Rivera, Carmelo; Zhang, Yu; Dobbs, Kerry; Markowitz, Tovah E.; Dalgard, Clifton L.; Oler, Andrew J.; Claybaugh, Dillon R.; Draper, Deborah; Truong, Meng; Delmonte, Ottavia M.; Licciardi, Francesco; Ramenghi, Ugo; Crescenzio, Nicoletta; Imberti, Luisa; Sottini, Alessandra; Quaresima, Virginia; Fiorini, Chiara; Discepolo, Valentina; Lo Vecchio, Andrea; Guarino, Alfredo; Pierri, Luca; Catzola, Andrea; Biondi, Andrea; Bonfanti, Paolo; Poli Harlowe, Maria Cecilia; Espinosa, Yasmin; Astudillo, Camila; Rey-Jurado, Emma; Vial, Cecilia; de la Cruz, Javiera; Gonzalez, Ricardo; Pinera, Cecilia; Mays, Jacqueline W.; Ng, Ashley; Platt, Andrew; Drolet, Beth; Moon, John; Cowen, Edward W.; Kenney, Heather; Weber, Sarah E.; Castagnoli, Riccardo; Magliocco, Mary; Stack, Michael A.; Montealegre, Gina; Barron, Karyl; Fink, Danielle L.; Kuhns, Douglas B.; Hewitt, Stephen M.; Arkin, Lisa M.; Chertow, Daniel S.; Su, Helen C.; Notarangelo, Luigi D.; Kaplan, Mariana J. Share Save
Share Save
PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology Yan, Shankai; Luo, Ling; Lai, Po-Ting; Veltri, Daniel; Oler, Andrew J.; Xirasagar, Sandhya; Ghosh, Rajarshi; Similuk, Morgan; Robinson, Peter N.; Lu, Zhiyong Share Save
Share Save
Utility of genome sequencing in CNV identification in an immune disorders cohort Seifert, Bryce; Similuk, Morgan; Setzer, Michael; Yan, Jia; Kamen, Michael; Jodarski, Colleen; Jamal, Leila; Jevtich, Kathleen; Yu, Yunting; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Beers, Breanna; Kuram, Vasu; Lack, Justin; Karlins, Eric; Oler, Andrew; Ghosh, Rajarshi; Bergerson, Jenna; Freeman, Alexandra; Fuss, Ivan; Lionakis, Michail; Strober, Warren; Uzel, Gulbu; Zerbe, Christa; Holland, Steven; Bi, Weimin; Franco, Luis; Walkiewicz-Yvon, Magdalena Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}
