Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias
Chen, Rui, PhD, Giliani, Silvia, PhD, Lanzi, Gaetana, PhD, Mias, George I., PhD, Lonardi, Silvia, BS, Dobbs, Kerry, BS, Manis, John, MD, Im, Hogune, PhD, Gallagher, Jennifer E., PhD, Phanstiel, Douglas H., PhD, Euskirchen, Ghia, PhD, Lacroute, Philippe, PhD, Bettinger, Keith, MS, Moratto, Daniele, PhD, Weinacht, Katja, MD, Montin, Davide, MD, Gallo, Eleonora, MD, Mangili, Giovanna, MD, Porta, Fulvio, MD, Notarangelo, Lucia D., MD, Pedretti, Stefania, MD, Al-Herz, Waleed, MD, Alfahdli, Wasmi, MD, Comeau, Anne Marie, PhD, Traister, Russell S., MD, PhD, Pai, Sung-Yun, MD, Carella, Graziella, PhD, Facchetti, Fabio, MD, Nadeau, Kari C., MD, PhD, Snyder, Michael, PhD, Notarangelo, Luigi D., MD
Published in Journal of allergy and clinical immunology (01.09.2013)
Published in Journal of allergy and clinical immunology (01.09.2013)
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Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
Felgentreff, Kerstin, MD, Lee, Yu Nee, PhD, Frugoni, Francesco, PhD, Du, Likun, PhD, van der Burg, Mirjam, PhD, Giliani, Silvia, PhD, Tezcan, Ilhan, MD, Reisli, Ismail, MD, Mejstrikova, Ester, MD, de Villartay, Jean-Pierre, PhD, Sleckman, Barry P., MD, PhD, Manis, John, MD, PhD, Notarangelo, Luigi D., MD
Published in Journal of allergy and clinical immunology (01.07.2015)
Published in Journal of allergy and clinical immunology (01.07.2015)
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Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice
Jabara, Haifa H., BSc, Lee, John J., MD, Janssen, Erin, MD, PhD, Ullas, Sumana, MS, Liadaki, Kyriaki, PhD, Garibyan, Lilit, MD, PhD, Benson, Halli, BS, Sannikova, Tatyana, BS, Bram, Richard, MD, PhD, Hammarstrom, Lennart, MD, Cruz, Anthony C., BS, Siegel, Richard, MD, PhD, Manis, John, MD, Malley, Richard, MD, Geha, Raif S., MD
Published in Journal of allergy and clinical immunology (01.04.2017)
Published in Journal of allergy and clinical immunology (01.04.2017)
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Journal Article
A novel mutation in the POLE2 gene causing combined immunodeficiency
Frugoni, Francesco, PhD, Dobbs, Kerry, BS, Felgentreff, Kerstin, MD, Aldhekri, Hasan, MD, Al Saud, Bandar K., MBBS, Arnaout, Rand, MBBS, Ali, Afshan Ashraf, MD, Abhyankar, Avinash, MD, PhD, Alroqi, Fayhan, MD, Giliani, Silvia, PhD, Ojeda, Mayra Martinez, MD, Tsitsikov, Erdyni, PhD, Pai, Sung-Yun, MD, Casanova, Jean Laurent, MD, PhD, Notarangelo, Luigi D., MD, Manis, John P., MD
Published in Journal of allergy and clinical immunology (01.02.2016)
Published in Journal of allergy and clinical immunology (01.02.2016)
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B-cell receptor cross-linking delays activation-induced cytidine deaminase induction and inhibits class-switch recombination to IgE
Jabara, Haifa H., BS, Chaudhuri, Jayanta, PhD, Dutt, Shilpee, PhD, Dedeoglu, Fatma, MD, Weng, Yu, BS, Murphy, Michael M., BS, Franco, Sonia, MD, PhD, Alt, Fredrick W., PhD, Manis, John, MD, Geha, Raif S., MD
Published in Journal of allergy and clinical immunology (2008)
Published in Journal of allergy and clinical immunology (2008)
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