JosephLRobertsMDPhD

PubMed

• 98 citations
  Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
  David Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, Julie E. Niemela, Isabelle Callebaut, Jennifer Stoddard, Christelle Lenoir, Vincent Barlogis, Catherine Farnarier, ...> ;The Journal of Clinical Investigation. 2018 Jul 2
• 42 citations
  Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature
  Slavé Petrovski, Roberta E. Parrott, Joseph L. Roberts, Hongxiang Huang, Jialong Yang, Balachandra K. Gorentla, Talal Mousallem, Endi Wang, Martin Armstrong, Duncan Mc...> ;Journal of Clinical Immunology. 2016 Apr 13
• 11 citations
  Improvement of mTORC1-driven overproduction of apoB-containing triacylglyceride-rich lipoproteins by short-chain fatty acids, 4-phenylbutyric acid and (R)-α-lipoic aci...
  Joseph L. Roberts, Bo He, Anjeza Erickson, Régis Moreau> ;Biochimica Et Biophysica Acta. 2016 Mar 1
• 21 citations
  Clinical application of whole-genome sequencing in patients with primary immunodeficiency
  Talal Mousallem, Thomas J. Urban, K. Melodi McSweeney, Sarah E. Kleinstein, Mingfu Zhu, Mehdi Adeli, Roberta E. Parrott, Joseph L. Roberts, Brian J. Krueger, Rebecca H...> ;The Journal of Allergy and Clinical Immunology. 2015 Aug 1
• 14 citations
  Emerging role of alpha-lipoic acid in the prevention and treatment of bone loss
  Joseph L. Roberts, Régis Moreau> ;Nutrition Reviews. 2015 Feb 1
• 49 citations
  A nonsense mutation in IKBKB causes combined immunodeficiency.
  Talal Mousallem, Jialong Yang, Thomas J. Urban, Hongxia Wang, Mehdi Adeli, Roberta E. Parrott, Joseph L. Roberts, David Goldstein, Rebecca H. Buckley, Xiao-Ping Zhong> ;Blood. 2014 Sep 25
• 29 citations
  CD45-deficient severe combined immunodeficiency caused by uniparental disomy
  Joseph L. Roberts, Rebecca H. Buckley, Biao Luo, Jianming Pei, Alla Lapidus, Suraj Peri, Qiong Wei, Jinwook Shin, Roberta E. Parrott, Roland L. Dunbrack, Joseph R. Tes...> ;Proceedings of the National Academy of Sciences of the United States of America. 2012 Jun 26
• 11 citations
  Genotype, Phenotype and Outcomes of Nine Patients with T-B+NK+ SCID
  Grace Yu, Kari C. Nadeau, David R. Berk, Geneviève de Saint Basile, Nathalie Lambert, Perrine Knapnougel, Joseph L. Roberts, Kristina Kavanau, Elizabeth Dunn, E. Richa...> ;Pediatric Transplantation. 2011 Nov 1
• 15 citations
  Partial splenectomy but not total splenectomy preserves immunoglobulin M memory B cells in mice.
  Elisabeth T. Tracy, Karen M. Haas, Tracy Gentry, Melissa E. Danko, Joseph L. Roberts, Joanne Kurtzberg, Henry E. Rice> ;Journal of Pediatric Surgery. 2011 Sep 1
• 58 citations
  Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras.
  Marcella Sarzotti-Kelsoe, Chan M. Win, Roberta E. Parrott, Myriah Cooney, Barry K. Moser, Joseph L. Roberts, Gregory D. Sempowski, Rebecca H. Buckley> ;Blood. 2009 Aug 13
• 6 citations
  Flexible Stereospecific Interactions and Composition within Nucleoprotein Complexes Assembled on the TCRα Gene Enhancer
  Beatriz del Blanco, Joseph L. Roberts, Noelia Zamarreño, Nadège Balmelle-Devaux, Cristina Hernández-Munain> ;Journal of Immunology. 2009 Aug 1
• 498 citations
  Clinical efficacy and immune regulation with peanut oral immunotherapy.
  Stacie M. Jones, Laurent Pons, Joseph L. Roberts, Amy M. Scurlock, Tamara T. Perry, Mike Kulis, Wayne G. Shreffler, Pamela H. Steele, Karen A. Henry, Margaret Adair, J...> ;The Journal of Allergy and Clinical Immunology. 2009 Aug 1
• 29 citations
  Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency
  Kricia Palmer, Todd D. Green, Joseph L. Roberts, E.O. Sajaroff, Myriah Cooney, Roberta E. Parrott, Dong-Feng Chen, Nancy L. Reinsmoen, Rebecca H. Buckley> ;The Journal of Allergy and Clinical Immunology. 2007 Aug 1
• 44 citations
  T−B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3ζ subunit of the T-cell antigen receptor complex
  Joseph L. Roberts, Jens Peter Holst Lauritsen, Myriah Cooney, Roberta E. Parrott, E.O. Sajaroff, Chan M. Win, Michael D. Keller, Jeffery H. Carpenter, Juan Carabana, M...> ;Blood. 2007 Apr 15
• 6 citations
  Interleukin 7 receptor α-chain-mutation severe combined immunodeficiency without lymphopenia: correction with haploidentical T-cell–depleted bone marrow transplantation
  Punita Ponda, Susan Schuval, Blanka Kaplan, Peter Logalbo, Joseph L. Roberts, Vincent R. Bonagura> ;Annals of Allergy, Asthma & Immunology. 2006 Dec 1
• 85 citations
  Jak3 and the pathogenesis of severe combined immunodeficiency.
  John J. O'Shea, Matthew Husa, Denise Li, Sigrun R. Hofmann, Wendy T. Watford, Joseph L. Roberts, Rebecca H. Buckley, Paul S. Changelian, Fabio Candotti> ;Molecular Immunology. 2004 Jul 1
• 90 citations
  Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.
  Joseph L. Roberts, Andrea Lengi, Stephanie M. Brown, Min Chen, Yong-Jie Zhou, John J. O'Shea, Rebecca H. Buckley> ;Blood. 2004 Mar 15
• 112 citations
  Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinases.
  Yong-Jie Zhou, Min Chen, Nancy Cusack, Lida H. Kimmel, Kelly S. Magnuson, James G. Boyd, Wen Lin, Joseph L. Roberts, Andrea Lengi, Rebecca H. Buckley, Robert L. Geahle...> ;Molecular Cell. 2001 Nov 21
• 503 citations
  Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.
  Rebecca H. Buckley, Sherrie E. Schiff, Richard I. Schiff, M. Louise Markert, Larry W. Williams, Joseph L. Roberts, Laurie Myers, Frances E. Ward> ;The New England Journal of Medicine. 1999 Feb 18
• 31 citations
  Role of JAK3 in CD40-Mediated Signaling
  Haifa H. Jabara, Rebecca H. Buckley, Joseph L. Roberts, Gérard Lefranc, Jacques Loiselet, Georges Elias Khalil, Raif S. Geha> ;Blood. 1998 Oct 1
• 48 citations
  Developmental regulation of V(D)J recombination at the TCR a/5 locus
  Michael S. Krangel, Cristina Hernández-Munain, Pilar Lauzurica, Michelle Taylor McMurry, Joseph L. Roberts, Xiao-Ping Zhong> ;Immunological Reviews. 1998 Oct 1
• 49 citations
  Cooperation among Multiple Transcription Factors Is Required for Access to Minimal T-Cell Receptor α-Enhancer Chromatin In Vivo
  Cristina Hernández-Munain, Joseph L. Roberts, Michael S. Krangel> ;Molecular and Cellular Biology. 1998 Jun 1
• 29 citations
  Regulation of T Cell Receptor δ Gene Rearrangement by CBF/PEBP2
  Pilar Lauzurica, Xiao-Ping Zhong, Michael S. Krangel, Joseph L. Roberts> ;The Journal of Experimental Medicine. 1997 Apr 7
• 361 citations
  Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
  Rebecca H. Buckley, Richard I. Schiff, Sherrie E. Schiff, M. Louise Markert, Larry W. Williams, Terry O. Harville, Joseph L. Roberts, Jennifer M. Puck> ;The Journal of Pediatrics. 1997 Mar 1
• 38 citations
  Developmental Regulation of VDJ Recombination By the Core Fragment of the T Cell Receptor α Enhancer
  Joseph L. Roberts, Pilar Lauzurica, Michael S. Krangel> ;The Journal of Experimental Medicine. 1997 Jan 6
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