Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder von Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kühn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Müller, Michael, Gärtner, Jutta

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Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years von Kwan, Antonia, PhD, MRCPCH, Church, Joseph A., MD, Cowan, Morton J., MD, Agarwal, Rajni, MD, Kapoor, Neena, MD, Kohn, Donald B., MD, Lewis, David B., MD, McGhee, Sean A., MD, Moore, Theodore B., MD, Stiehm, E. Richard, MD, Porteus, Matthew, MD, Aznar, Constantino P., PhD, Currier, Robert, PhD, Lorey, Fred, PhD, Puck, Jennifer M., MD

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Multiplexed Functional Assessment of Genetic Variants in CARD11 von Meitlis, Iana, Allenspach, Eric J., Bauman, Bradly M., Phan, Isabelle Q., Dabbah, Gina, Schmitt, Erica G., Camp, Nathan D., Torgerson, Troy R., Nickerson, Deborah A., Bamshad, Michael J., Hagin, David, Luthers, Christopher R., Stinson, Jeffrey R., Gray, Jessica, Lundgren, Ingrid, Church, Joseph A., Butte, Manish J., Jordan, Mike B., Aceves, Seema S., Schwartz, Daniella M., Milner, Joshua D., Schuval, Susan, Skoda-Smith, Suzanne, Cooper, Megan A., Starita, Lea M., Rawlings, David J., Snow, Andrew L., James, Richard G.

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Signaling lymphocytic activation molecule (SLAM)/SLAM-associated protein pathway regulates human B-cell tolerance von Menard, Laurence, PhD, Cantaert, Tineke, PhD, Chamberlain, Nicolas, BS, Tangye, Stuart G., PhD, Riminton, Sean, MD, PhD, Church, Joseph A., MD, Klion, Amy, MD, Cunningham-Rundles, Charlotte, MD, Nichols, Kim E., MD, Meffre, Eric, PhD

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Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage von Burkhalter, Martin D., Stiff, Tom, Maerz, Lars D., Casar Tena, Teresa, Wiese, Heike, Gerhards, Julian, Sailer, Steffen A., Vu, Linh Anna Trúc, Duong Phu, Max, Donow, Cornelia, Alupei, Marius, Iben, Sebastian, Groth, Marco, Wiese, Sebastian, Church, Joseph A., Jeggo, Penelope A., Philipp, Melanie

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White matter of perinatally HIV infected older youths shows low frequency fluctuations that may reflect glial cycling von Sarma, Manoj K., Pal, Amrita, Keller, Margaret A., Welikson, Tamara, Ventura, Joseph, Michalik, David E., Nielsen-Saines, Karin, Deville, Jaime, Kovacs, Andrea, Operskalski, Eva, Church, Joseph A., Macey, Paul M., Biswal, Bharat, Thomas, M. Albert

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Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review von El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai

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Pilot Assessment of Brain Metabolism in Perinatally HIV-Infected Youths Using Accelerated 5D Echo Planar J-Resolved Spectroscopic Imaging von Iqbal, Zohaib, Wilson, Neil E, Keller, Margaret A, Michalik, David E, Church, Joseph A, Nielsen-Saines, Karin, Deville, Jaime, Souza, Raissa, Brecht, Mary-Lynn, Thomas, M Albert

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Regional brain gray and white matter changes in perinatally HIV-infected adolescents von Sarma, Manoj K, Nagarajan, Rajakumar, Keller, Margaret A, Kumar, Rajesh, Nielsen-Saines, Karin, Michalik, David E, Deville, Jaime, Church, Joseph A, Thomas, M Albert

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Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome von Kuo, Caroline Y., MD, Chase, John, MD, Garcia Lloret, Maria, MD, Stiehm, E. Richard, MD, Moore, Theodore, MD, Aguilera, Maria J. Matas, MSc, Lopez Siles, Juan, PhD, Church, Joseph A., MD

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Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1 von Mamcarz, Ewelina, Zhou, Sheng, Lockey, Timothy, Abdelsamed, Hossam, Cross, Shane J, Kang, Guolian, Ma, Zhijun, Condori, Jose, Dowdy, Jola, Triplett, Brandon, Li, Chen, Maron, Gabriela, Aldave Becerra, Juan C, Church, Joseph A, Dokmeci, Elif, Love, James T, da Matta Ain, Ana C, van der Watt, Hedi, Tang, Xing, Janssen, William, Ryu, Byoung Y, De Ravin, Suk See, Weiss, Mitchell J, Youngblood, Benjamin, Long-Boyle, Janel R, Gottschalk, Stephen, Meagher, Michael M, Malech, Harry L, Puck, Jennifer M, Cowan, Morton J, Sorrentino, Brian P

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Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017 von Amatuni, George S, Currier, Robert J, Church, Joseph A, Bishop, Tracey, Grimbacher, Elena, Nguyen, Alan Anh-Chuong, Agarwal-Hashmi, Rajni, Aznar, Constantino P, Butte, Manish J, Cowan, Morton J, Dorsey, Morna J, Dvorak, Christopher C, Kapoor, Neena, Kohn, Donald B, Markert, M Louise, Moore, Theodore B, Naides, Stanley J, Sciortino, Stanley, Feuchtbaum, Lisa, Koupaei, Rasoul A, Puck, Jennifer M

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Nijmegen Breakage Syndrome Detected By Newborn Screening for T Cell Receptor Excision Circles (TRECs) von Patel, Jay, MD, Puck, Jennifer M., MD, Kundu, Kunal, Sunderam, Uma, Brown, Christina, Srinivasan, Rajgopal, Ph.D, Brenner, Steven E., Ph.D, Gatti, Richard A., MD, Church, Joseph A., MD, FAAAAI

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Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis von Lafaille, Fabien G., Harschnitz, Oliver, Lee, Yoon Seung, Zhang, Peng, Hasek, Mary L., Kerner, Gaspard, Itan, Yuval, Ewaleifoh, Osefame, Rapaport, Franck, Carlile, Thomas M., Carter-Timofte, Madalina E., Paquet, Dominik, Dobbs, Kerry, Zimmer, Bastian, Gao, Daxing, Rojas-Duran, Maria F., Kwart, Dylan, Rattina, Vimel, Ciancanelli, Michael J., McAlpine, Jessica L., Lorenzo, Lazaro, Boucherit, Soraya, Rozenberg, Flore, Halwani, Rabih, Henry, Benoit, Amenzoui, Naima, Alsum, Zobaida, Marques, Laura, Church, Joseph A., Al-Muhsen, Saleh, Tardieu, Marc, Bousfiha, Ahmed Aziz, Paludan, Søren R., Mogensen, Trine Hyrup, Quintana-Murci, Lluis, Tessier-Lavigne, Marc, Smith, Gregory A., Notarangelo, Luigi D., Studer, Lorenz, Gilbert, Wendy, Abel, Laurent, Casanova, Jean-Laurent, Zhang, Shen-Ying

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The Effect of Maternal Peripartum Anti-TNFα Use on Infant Immune Response von Sheibani, Sarah, Cohen, Russell, Kane, Sunanda, Dubinsky, Marla, Church, Joseph A., Mahadevan, Uma

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Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States von Kwan, Antonia, Abraham, Roshini S, Currier, Robert, Brower, Amy, Andruszewski, Karen, Abbott, Jordan K, Baker, Mei, Ballow, Mark, Bartoshesky, Louis E, Bonilla, Francisco A, Brokopp, Charles, Brooks, Edward, Caggana, Michele, Celestin, Jocelyn, Church, Joseph A, Comeau, Anne Marie, Connelly, James A, Cowan, Morton J, Cunningham-Rundles, Charlotte, Dasu, Trivikram, Dave, Nina, De La Morena, Maria T, Duffner, Ulrich, Fong, Chin-To, Forbes, Lisa, Freedenberg, Debra, Gelfand, Erwin W, Hale, Jaime E, Hanson, I. Celine, Hay, Beverly N, Hu, Diana, Infante, Anthony, Johnson, Daisy, Kapoor, Neena, Kay, Denise M, Kohn, Donald B, Lee, Rachel, Lehman, Heather, Lin, Zhili, Lorey, Fred, Abdel-Mageed, Aly, Manning, Adrienne, McGhee, Sean, Moore, Theodore B, Naides, Stanley J, Notarangelo, Luigi D, Orange, Jordan S, Pai, Sung-Yun, Porteus, Matthew, Rodriguez, Ray, Romberg, Neil, Routes, John, Ruehle, Mary, Rubenstein, Arye, Saavedra-Matiz, Carlos A, Scott, Ginger, Scott, Patricia M, Secord, Elizabeth, Seroogy, Christine, Shearer, William T, Siegel, Subhadra, Silvers, Stacy K, Stiehm, E. Richard, Sugerman, Robert W, Sullivan, John L, Tanksley, Susan, Tierce, Millard L, Verbsky, James, Vogel, Beth, Walker, Rosalyn, Walkovich, Kelly, Walter, Jolan E, Wasserman, Richard L, Watson, Michael S, Weinberg, Geoffrey A, Weiner, Leonard B, Wood, Heather, Yates, Anne B, Puck, Jennifer M

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Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects von Amatuni, George S., Sciortino, Stanley, Currier, Robert J., Naides, Stanley J., Church, Joseph A., Puck, Jennifer M.

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Chronic rhinosinusitis with severe nasal polyposis in hyper-IgE syndrome von Huang, Evie, Church, Joseph A.

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Digeorge Syndrome Found By SCID Newborn Screening In California von Patel, Kiran P., Dr, Kwan, Antonia, Dr, Muskat, Mica, MSN, Church, Joseph A., Dr, Dorsey, Morna J., Dr, Puck, Jennifer M., Dr

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Association of Staphylococcal Superantigen-Specific Immunoglobulin E with Mild and Moderate Atopic Dermatitis von Ong, Peck Y., MD, Patel, Mona, MD, Ferdman, Ronald M., MD, Dunaway, Theresa, RN, Church, Joseph A., MD

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