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ArticlesPeer ReviewedFull Text
Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency
Author / Creator:Nguyen, David N. ; Roth, Theodore L. ; Li, P. Jonathan ; Chen, Peixin Amy ; Apathy, Ryan ; Mamedov, Murad R. ; Vo, Linda T. ; Tobin, Victoria R. ; Goodman, Daniel ; Shifrut, Eric ; Bluestone, Jeffrey A. ; Puck, Jennifer M. ; Szoka, Francis C. ; Marson, Alexander
Publisher:New York: Nature Publishing Group US
Journal title:Nature biotechnology, 2020-01, Vol.38 (1), p.44-49
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Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
Author / Creator:Tangye, Stuart G. ; Al-Herz, Waleed ; Bousfiha, Aziz ; Cunningham-Rundles, Charlotte ; Franco, Jose Luis ; Holland, Steven M. ; Klein, Christoph ; Morio, Tomohiro ; Oksenhendler, Eric ; Picard, Capucine ; Puel, Anne ; Puck, Jennifer ; Seppänen, Mikko R. J. ; Somech, Raz ; Su, Helen C. ; Sullivan, Kathleen E. ; Torgerson, Troy R. ; Meyts, Isabelle
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2022-10, Vol.42 (7), p.1473-1507
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Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
Author / Creator:Picard, Capucine ; Al-Herz, Waleed ; Bousfiha, Aziz ; Casanova, Jean-Laurent ; Chatila, Talal ; Conley, Mary Ellen ; Cunningham-Rundles, Charlotte ; Etzioni, Amos ; Holland, Steven M. ; Klein, Christoph ; Nonoyama, Shigeaki ; Ochs, Hans D. ; Oksenhendler, Eric ; Puck, Jennifer M. ; Sullivan, Kathleen E. ; Tang, Mimi L K. ; Franco, Jose Luis ; Gaspar, H. Bobby
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2015-11, Vol.35 (8), p.696-726
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The role of exome sequencing in newborn screening for inborn errors of metabolism
Author / Creator:Adhikari, Aashish N. ; Gallagher, Renata C. ; Wang, Yaqiong ; Currier, Robert J. ; Amatuni, George ; Bassaganyas, Laia ; Chen, Flavia ; Kundu, Kunal ; Kvale, Mark ; Mooney, Sean D. ; Nussbaum, Robert L. ; Randi, Savanna S. ; Sanford, Jeremy ; Shieh, Joseph T. ; Srinivasan, Rajgopal ; Sunderam, Uma ; Tang, Hao ; Vaka, Dedeepya ; Zou, Yangyun ; Koenig, Barbara A. ; Kwok, Pui-Yan ; Risch, Neil ; Puck, Jennifer M. ; Brenner, Steven E.
Publisher:New York: Nature Publishing Group US
Journal title:Nature medicine, 2020-09, Vol.26 (9), p.1392-1397
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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
Author / Creator:Bousfiha, Aziz ; Moundir, Abderrahmane ; Tangye, Stuart G. ; Picard, Capucine ; Jeddane, Leïla ; Al-Herz, Waleed ; Rundles, Charlotte C. ; Franco, Jose Luis ; Holland, Steven M. ; Klein, Christoph ; Morio, Tomohiro ; Oksenhendler, Eric ; Puel, Anne ; Puck, Jennifer ; Seppänen, Mikko R. J. ; Somech, Raz ; Su, Helen C. ; Sullivan, Kathleen E. ; Torgerson, Troy R. ; Meyts, Isabelle
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2022-10, Vol.42 (7), p.1508-1520
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Lentiviral Gene Therapy for Artemis-Deficient SCID
Author / Creator:Cowan, Morton J. ; Yu, Jason ; Facchino, Janelle ; Fraser-Browne, Carol ; Sanford, Ukina ; Kawahara, Misako ; Dara, Jasmeen ; Long-Boyle, Janel ; Oh, Jess ; Chan, Wendy ; Chag, Shivali ; Broderick, Lori ; Chellapandian, Deepak ; Decaluwe, Hélène ; Golski, Catherine ; Hu, Diana ; Kuo, Caroline Y. ; Miller, Holly K. ; Petrovic, Aleksandra ; Currier, Robert ; Hilton, Joan F. ; Punwani, Divya ; Dvorak, Christopher C. ; Malech, Harry L. ; McIvor, R. Scott ; Puck, Jennifer M.
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2022-12, Vol.387 (25), p.2344-2355
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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Author / Creator:Bousfiha, Aziz ; Jeddane, Leila ; Picard, Capucine ; Al-Herz, Waleed ; Ailal, Fatima ; Chatila, Talal ; Cunningham-Rundles, Charlotte ; Etzioni, Amos ; Franco, Jose Luis ; Holland, Steven M ; Klein, Christoph ; Morio, Tomohiro ; Ochs, Hans D. ; Oksenhendler, Eric ; Puck, Jennifer ; Torgerson, Troy R. ; Casanova, Jean-Laurent ; Sullivan, Kathleen E. ; Tangye, Stuart G.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2020-01, Vol.40 (1), p.66-81
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International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
Author / Creator:Picard, Capucine ; Bobby Gaspar, H. ; Al-Herz, Waleed ; Bousfiha, Aziz ; Casanova, Jean-Laurent ; Chatila, Talal ; Crow, Yanick J. ; Cunningham-Rundles, Charlotte ; Etzioni, Amos ; Franco, Jose Luis ; Holland, Steven M. ; Klein, Christoph ; Morio, Tomohiro ; Ochs, Hans D. ; Oksenhendler, Eric ; Puck, Jennifer ; Tang, Mimi L. K. ; Tangye, Stuart G. ; Torgerson, Troy R. ; Sullivan, Kathleen E.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2018-01, Vol.38 (1), p.96-128
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The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
Author / Creator:Tangye, Stuart G. ; Al-Herz, Waleed ; Bousfiha, Aziz ; Cunningham-Rundles, Charlotte ; Franco, Jose Luis ; Holland, Steven M ; Klein, Christoph ; Morio, Tomohiro ; Oksenhendler, Eric ; Picard, Capucine ; Puel, Anne ; Puck, Jennifer ; Seppänen, Mikko R. J. ; Somech, Raz ; Su, Helen C ; Sullivan, Kathleen E. ; Torgerson, Troy R. ; Meyts, Isabelle
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-04, Vol.41 (3), p.666-679
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The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
Author / Creator:Bousfiha, Aziz ; Jeddane, Leïla ; Picard, Capucine ; Ailal, Fatima ; Bobby Gaspar, H. ; Al-Herz, Waleed ; Chatila, Talal ; Crow, Yanick J. ; Cunningham-Rundles, Charlotte ; Etzioni, Amos ; Franco, Jose Luis ; Holland, Steven M. ; Klein, Christoph ; Morio, Tomohiro ; Ochs, Hans D. ; Oksenhendler, Eric ; Puck, Jennifer ; Tang, Mimi L. K. ; Tangye, Stuart G. ; Torgerson, Troy R. ; Casanova, Jean-Laurent ; Sullivan, Kathleen E.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2018-01, Vol.38 (1), p.129-143
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A prudent path forward for genomic engineering and germline gene modification
Author / Creator:Baltimore, David ; Berg, Paul ; Botchan, Michael ; Carroll, Dana ; Charo, RAlta ; Church, George ; Corn, Jacob E ; Daley, George Q ; Doudna, Jennifer A ; Fenner, Marsha ; Greely, Henry T ; Jinek, Martin ; Martin, GSteven ; Penhoet, Edward ; Puck, Jennifer ; Sternberg, Samuel H ; Weissman, Jonathan S ; Yamamoto, Keith R
Publisher:Washington: The American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2015-04, Vol.348 (6230), p.36-38
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The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies
Author / Creator:Bousfiha, Aziz ; Jeddane, Leïla ; Al-Herz, Waleed ; Ailal, Fatima ; Casanova, Jean‐Laurent ; Chatila, Talal ; Conley, Mary Ellen ; Cunningham‐Rundles, Charlotte ; Etzioni, Amos ; Franco, Jose Luis ; Gaspar, H. Bobby ; Holland, Steven M. ; Klein, Christoph ; Nonoyama, Shigeaki ; Ochs, Hans D. ; Oksenhendler, Eric ; Picard, Capucine ; Puck, Jennifer M. ; Sullivan, Kathleen E. ; Tang, Mimi L. K.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2015-11, Vol.35 (8), p.727-738
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Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels
Author / Creator:Puck, Jennifer M.
Publisher:United States: Blackwell Publishing Ltd
Journal title:The Hastings Center report, 2018-07, Vol.48 (S2), p.S7-S9
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Severe combined immunodeficiencies and related disorders
Author / Creator:Fischer, Alain ; Notarangelo, Luigi D. ; Neven, Bénédicte ; Cavazzana, Marina ; Puck, Jennifer M.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2015-10, Vol.1 (1), p.15061-15061
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Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B
Author / Creator:Punwani, Divya ; Zhang, Yong ; Yu, Jason ; Cowan, Morton J ; Rana, Sadhna ; Kwan, Antonia ; Adhikari, Aashish N ; Lizama, Carlos O ; Mendelsohn, Bryce A ; Fahl, Shawn P ; Chellappan, Ajithavalli ; Srinivasan, Rajgopal ; Brenner, Steven E ; Wiest, David L ; Puck, Jennifer M
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2016-12, Vol.375 (22), p.2165-2176
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An update on the hyper-IgE syndromes
Author / Creator:Yong, Patrick F K ; Freeman, Alexandra F ; Engelhardt, Karin R ; Holland, Steven ; Puck, Jennifer M ; Grimbacher, Bodo
Publisher:England: BioMed Central Ltd
Journal title:Arthritis research & therapy, 2012-01, Vol.14 (6), p.228-228
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Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders
Author / Creator:Forlanini, Federica ; Chan, Alice ; Dara, Jasmeen ; Dvorak, Christopher C. ; Cowan, Morton J. ; Puck, Jennifer M. ; Dorsey, Morna J.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2023-04, Vol.43 (3), p.636-646
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Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation
Author / Creator:Punwani, Divya ; Wang, Haopeng ; Chan, Alice Y. ; Cowan, Morton J. ; Mallott, Jacob ; Sunderam, Uma ; Mollenauer, Marianne ; Srinivasan, Rajgopal ; Brenner, Steven E. ; Mulder, Arend ; Claas, Frans H. J. ; Weiss, Arthur ; Puck, Jennifer M.
Publisher:Boston: Springer US
Journal title:Journal of clinical immunology, 2015-02, Vol.35 (2), p.135-146
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Establishing Newborn Screening for SCID in the USA; Experience in California
Author / Creator:Puck, Jennifer M ; Gennery, Andrew R
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2021-10, Vol.7 (4), p.72
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STAT3 Mutations in the Hyper-IgE Syndrome
Author / Creator:Holland, Steven M ; DeLeo, Frank R ; Elloumi, Houda Z ; Hsu, Amy P ; Uzel, Gulbu ; Brodsky, Nina ; Freeman, Alexandra F ; Demidowich, Andrew ; Davis, Joie ; Turner, Maria L ; Anderson, Victoria L ; Darnell, Dirk N ; Welch, Pamela A ; Kuhns, Douglas B ; Frucht, David M ; Malech, Harry L ; Gallin, John I ; Kobayashi, Scott D ; Whitney, Adeline R ; Voyich, Jovanka M ; Musser, James M ; Woellner, Cristina ; Schäffer, Alejandro A ; Puck, Jennifer M ; Grimbacher, Bodo
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2007-10, Vol.357 (16), p.1608-1619
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Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency

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Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

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Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

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The role of exome sequencing in newborn screening for inborn errors of metabolism

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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

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Lentiviral Gene Therapy for Artemis-Deficient SCID

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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

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International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

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The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

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The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

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A prudent path forward for genomic engineering and germline gene modification

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The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

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Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels

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Severe combined immunodeficiencies and related disorders

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Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B

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An update on the hyper-IgE syndromes

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Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders

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Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

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Establishing Newborn Screening for SCID in the USA; Experience in California

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STAT3 Mutations in the Hyper-IgE Syndrome

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