Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

Bằng Stoddard, Jennifer L., Niemela, Julie E., Fleisher, Thomas A., Rosenzweig, Sergio D.
Được phát hành 2014

Late-onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1)

Bằng Cohen, Jeffrey I., Niemela, Julie E., Stoddard, Jennifer L., Pittaluga, Stefania, Heslop, Helen, Jaffe, Elaine S., Dowdell, Kennichi
Xuất bản năm J Clin Immunol (2015)

Marked and persistent eosinophilia in the absence of clinical manifestations

Bằng Chen, Yun-Yun K., Khoury, Paneez, Ware, JeanAnne M., Holland-Thomas, Nicole C., Stoddard, Jennifer L., Gurprasad, Shakuntala, Waldner, Amy J., Klion, Amy D.
Được phát hành 2013

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

Bằng Kuehn, Hye Sun, Niemela, Julie E., Rangel-Santos, Andreia, Zhang, Mingchang, Pittaluga, Stefania, Stoddard, Jennifer L., Hussey, Ashleigh A., Evbuomwan, Moses O., Priel, Debra A. Long, Kuhns, Douglas B., Park, C. Lucy, Fleisher, Thomas A., Uzel, Gulbu, Oliveira, João B.
Được phát hành 2013

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype

Bằng Kuehn, Hye Sun, Niemela, Julie E., Sreedhara, Karthik, Stoddard, Jennifer L., Grossman, Jennifer, Wysocki, Christian A., de la Morena, M. Teresa, Garofalo, Mary, Inlora, Jingga, Snyder, Michael P., Lewis, David B., Stratakis, Constantine A., Fleisher, Thomas A., Rosenzweig, Sergio D.
Xuất bản năm Blood (2017)

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India

Bằng Aluri, Jahnavi, Desai, Mukesh, Gupta, Maya, Dalvi, Aparna, Terance, Antony, Rosenzweig, Sergio D., Stoddard, Jennifer L., Niemela, Julie E., Tamankar, Vasundhara, Mhatre, Snehal, Bargir, Umair, Kulkarni, Manasi, Shah, Nitin, Aggarwal, Amita, Lashkari, Harsha Prasada, Krishna, Vidya, Govindaraj, Geeta, Kalra, Manas, Madkaikar, Manisha
Xuất bản năm Front Immunol (2019)

Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways

Bằng Howe, Matthew K, Dowdell, Kennichi, Kuehn, Hye Sun, Li, Qingxue, Hart, Geoffrey T, Garabedian, Doreen, Liepshutz, Kelly, Hsu, Amy P, Su, Hua, Niemela, Julie E, Stoddard, Jennifer L, Uzel, Gulbu, Shereck, Evan, Schulz, Laura, Feldman, Tatyana, Rosenzweig, Sergio D, Long, Eric O, Dropulic, Lesia, Cohen, Jeffrey I
Xuất bản năm J Infect Dis (2020)

A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

Bằng Kuehn, Hye Sun, Bernasconi, Andrea, Niemela, Julie E., Almejun, Maria Belen, Gallego, William Alexander Franco, Goel, Shubham, Stoddard, Jennifer L., Sánchez, Ronald Guillermo Peláez, Franco, Carlos Andrés Arango, Oleastro, Matías, Grunebaum, Eyal, Ballas, Zuhair, Cunningham-Rundles, Charlotte, Fleisher, Thomas A., Franco, José Luis, Danielian, Silvia, Rosenzweig, Sergio D.
Xuất bản năm J Clin Immunol (2020)

Correction to: A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

Bằng Kuehn, Hye Sun, Bernasconi, Andrea, Niemela, Julie E., Almejun, Maria Belen, Gallego, William Alexander Franco, Goel, Shubham, Stoddard, Jennifer L., Sánchez, Ronald Guillermo Peláez, Franco, Carlos Andrés Arango, Oleastro, Matías, Grunebaum, Eyal, Ballas, Zuhair, Cunningham-Rundles, Charlotte, Fleisher, Thomas A., Franco, José Luis, Danielian, Silvia, Rosenzweig, Sergio D.
Xuất bản năm J Clin Immunol (2020)

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells

Bằng Deenick, Elissa K., Avery, Danielle T., Chan, Anna, Berglund, Lucinda J., Ives, Megan L., Moens, Leen, Stoddard, Jennifer L., Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Tsumura, Miyuki, Kobayashi, Masao, Arkwright, Peter D., Averbuch, Diana, Engelhard, Dan, Roesler, Joachim, Peake, Jane, Wong, Melanie, Adelstein, Stephen, Choo, Sharon, Smart, Joanne M., French, Martyn A., Fulcher, David A., Cook, Matthew C., Picard, Capucine, Durandy, Anne, Klein, Christoph, Holland, Steven M., Uzel, Gulbu, Casanova, Jean-Laurent, Ma, Cindy S., Tangye, Stuart G.
Được phát hành 2013

Monogenic mutations differentially impact the quantity and quality of T follicular helper cells in human primary immunodeficiencies

Bằng Ma, Cindy S, Wong, Natalie, Rao, Geetha, Avery, Danielle T, Torpy, James, Hambridge, Thomas, Bustamante, Jacinta, Okada, Satoshi, Stoddard, Jennifer L, Deenick, Elissa K, Pelham, Simon J, Payne, Katherine, Boisson-Dupuis, Stéphanie, Puel, Anne, Kobayashi, Masao, Arkwright, Peter D, Kilic, Sara Sebnem, Baghdadi, Jamila El, Nonoyama, Shigeaki, Minegishi, Yoshiyuki, Mahdaviani, Seyed Alireza, Mansouri, Davood, Bousfiha, Aziz, Blincoe, Annaliesse K, French, Martyn A, Hsu, Peter, Campbell, Dianne E., Stormon, Michael O, Wong, Melanie, Adelstein, Stephen, Smart, Joanne M, Fulcher, David A, Cook, Matthew C, Phan, Tri G, Stepensky, Polina, Boztug, Kaan, Kansu, Aydan, Ikincioğullari, Aydan, Baumann, Ulrich, Beier, Rita, Roscioli, Tony, Ziegler, John B, Gray, Paul, Picard, Capucine, Grimbacher, Bodo, Warnatz, Klaus, Holland, Steven M, Casanova, Jean-Laurent, Uzel, Gulbu, Tangye, Stuart G
Xuất bản năm J Allergy Clin Immunol (2015)