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1
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells
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Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

Li, Jin ; Jørgensen, Silje F ; Maggadottir, S Melkorka ; Bakay, Marina ; Warnatz, Klaus ; Glessner, Joseph ; Pandey, Rahul ; Salzer, Ulrich ; Schmidt, Reinhold E ; Perez, Elena ; Resnick, Elena ; Goldacker, Sigune ; Buchta, Mary ; Witte, Torsten ; Padyukov, Leonid ; Videm, Vibeke ; Folseraas, Trine ; Atschekzei, Faranaz ; Elder, James T ; Nair, Rajan P ; Winkelmann, Juliane ; Gieger, Christian ; Nöthen, Markus M ; Büning, Carsten ; Brand, Stephan ; Sullivan, Kathleen E ; Orange, Jordan S ; Fevang, Børre ; Schreiber, Stefan ; Lieb, Wolfgang ; Aukrust, Pål ; Chapel, Helen ; Cunningham-Rundles, Charlotte ; Franke, Andre ; Karlsen, Tom H ; Grimbacher, Bodo ; Hakonarson, Hakon ; Hammarström, Lennart ; Ellinghaus, Eva

Nature communications, 2015-04, Vol.6 (1), p.6804-6804, Article 6804 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
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Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

Maffucci, Patrick ; Chavez, Jose ; Jurkiw, Thomas J ; O'Brien, Patrick J ; Abbott, Jordan K ; Reynolds, Paul R ; Worth, Austen ; Notarangelo, Luigi D ; Felgentreff, Kerstin ; Cortes, Patricia ; Boisson, Bertrand ; Radigan, Lin ; Cobat, Aurélie ; Dinakar, Chitra ; Ehlayel, Mohammad ; Ben-Omran, Tawfeg ; Gelfand, Erwin W ; Casanova, Jean-Laurent ; Cunningham-Rundles, Charlotte

The Journal of clinical investigation, 2018-12, Vol.128 (12), p.5489-5504 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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3
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency
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BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency

Darbinyan, Armine ; Major, Eugene O ; Morgello, Susan ; Holland, Steven ; Ryschkewitsch, Caroline ; Monaco, Maria Chiara ; Naidich, Thomas P ; Bederson, Joshua ; Malaczynska, Joanna ; Ye, Fei ; Gordon, Ronald ; Cunningham-Rundles, Charlotte ; Fowkes, Mary ; Tsankova, Nadejda M

Acta neuropathologica communications, 2016-07, Vol.4 (1), p.73-73, Article 73 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Bovine antigens and the formation of circulating immune complexes in selective immunoglobulin A deficiency
Bovine antigens and the formation of circulating immune complexes in selective immunoglobulin A deficiency
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Bovine antigens and the formation of circulating immune complexes in selective immunoglobulin A deficiency

Cunningham-Rundles, C ; Brandeis, W E ; Good, R A ; Day, N K

The Journal of clinical investigation, 1979-07, Vol.64 (1), p.272-279 [Periódico revisado por pares]

United States

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5
BRWD1 orchestrates epigenetic landscape of late B lymphopoiesis
BRWD1 orchestrates epigenetic landscape of late B lymphopoiesis
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BRWD1 orchestrates epigenetic landscape of late B lymphopoiesis

Mandal, Malay ; Maienschein-Cline, Mark ; Maffucci, Patrick ; Veselits, Margaret ; Kennedy, Domenick E ; McLean, Kaitlin C ; Okoreeh, Michael K ; Karki, Sophiya ; Cunningham-Rundles, Charlotte ; Clark, Marcus R

Nature communications, 2018-09, Vol.9 (1), p.3888-15, Article 3888 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Circulating bioactive bacterial DNA is associated with immune activation and complications in common variable immunodeficiency
Circulating bioactive bacterial DNA is associated with immune activation and complications in common variable immunodeficiency
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Circulating bioactive bacterial DNA is associated with immune activation and complications in common variable immunodeficiency

Ho, Hsi-En ; Radigan, Lin ; Bongers, Gerold ; El-Shamy, Ahmed ; Cunningham-Rundles, Charlotte

JCI insight, 2021-10, Vol.6 (19) [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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7
CVID-associated TACI mutations affect autoreactive B cell selection and activation
CVID-associated TACI mutations affect autoreactive B cell selection and activation
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CVID-associated TACI mutations affect autoreactive B cell selection and activation

Romberg, Neil ; Chamberlain, Nicolas ; Saadoun, David ; Gentile, Maurizio ; Kinnunen, Tuure ; Ng, Yen Shing ; Virdee, Manmeet ; Menard, Laurence ; Cantaert, Tineke ; Morbach, Henner ; Rachid, Rima ; Martinez-Pomar, Natalia ; Matamoros, Nuria ; Geha, Raif ; Grimbacher, Bodo ; Cerutti, Andrea ; Cunningham-Rundles, Charlotte ; Meffre, Eric

The Journal of clinical investigation, 2013-10, Vol.123 (10), p.4283-4293 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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8
Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint
Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint
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Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint

Cantaert, Tineke ; Schickel, Jean-Nicolas ; Bannock, Jason M ; Ng, Yen-Shing ; Massad, Christopher ; Delmotte, Fabien R ; Yamakawa, Natsuko ; Glauzy, Salome ; Chamberlain, Nicolas ; Kinnunen, Tuure ; Menard, Laurence ; Lavoie, Aubert ; Walter, Jolan E ; Notarangelo, Luigi D ; Bruneau, Julie ; Al-Herz, Waleed ; Kilic, Sara Sebnem ; Ochs, Hans D ; Cunningham-Rundles, Charlotte ; van der Burg, Mirjam ; Kuijpers, Taco W ; Kracker, Sven ; Kaneko, Hideo ; Sekinaka, Yujin ; Nonoyama, Shigeaki ; Durandy, Anne ; Meffre, Eric

The Journal of clinical investigation, 2016-11, Vol.126 (11), p.4289-4302 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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9
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, Sebastian ; Carmody, Leigh ; Vasilevsky, Nicole ; Jacobsen, Julius O B ; Danis, Daniel ; Gourdine, Jean-Philippe ; Gargano, Michael ; Harris, Nomi L ; Matentzoglu, Nicolas ; McMurry, Julie A ; Osumi-Sutherland, David ; Cipriani, Valentina ; Balhoff, James P ; Conlin, Tom ; Blau, Hannah ; Baynam, Gareth ; Palmer, Richard ; Gratian, Dylan ; Dawkins, Hugh ; Segal, Michael ; Jansen, Anna C ; Muaz, Ahmed ; Chang, Willie H ; Bergerson, Jenna ; Laulederkind, Stanley J F ; Yüksel, Zafer ; Beltran, Sergi ; Freeman, Alexandra F ; Sergouniotis, Panagiotis I ; Durkin, Daniel ; Storm, Andrea L ; Hanauer, Marc ; Brudno, Michael ; Bello, Susan M ; Sincan, Murat ; Rageth, Kayli ; Wheeler, Matthew T ; Oegema, Renske ; Lourghi, Halima ; Della Rocca, Maria G ; Thompson, Rachel ; Castellanos, Francisco ; Priest, James ; Cunningham-Rundles, Charlotte ; Hegde, Ayushi ; Lovering, Ruth C ; Hajek, Catherine ; Olry, Annie ; Notarangelo, Luigi ; Similuk, Morgan ; Zhang, Xingmin A ; Gómez-Andrés, David ; Lochmüller, Hanns ; Dollfus, Hélène ; Rosenzweig, Sergio ; Marwaha, Shruti ; Rath, Ana ; Sullivan, Kathleen ; Smith, Cynthia ; Milner, Joshua D ; Leroux, Dorothée ; Boerkoel, Cornelius F ; Klion, Amy ; Carter, Melody C ; Groza, Tudor ; Smedley, Damian ; Haendel, Melissa A ; Mungall, Chris ; Robinson, Peter N

Nucleic acids research, 2019-01, Vol.47 (D1), p.D1018-D1027 [Periódico revisado por pares]

England: Oxford University Press

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10
Genetic sharing and heritability of paediatric age of onset autoimmune diseases
Genetic sharing and heritability of paediatric age of onset autoimmune diseases
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Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Li, Yun R ; Zhao, Sihai D ; Li, Jin ; Bradfield, Jonathan P ; Mohebnasab, Maede ; Steel, Laura ; Kobie, Julie ; Abrams, Debra J ; Mentch, Frank D ; Glessner, Joseph T ; Guo, Yiran ; Wei, Zhi ; Connolly, John J ; Cardinale, Christopher J ; Bakay, Marina ; Li, Dong ; Maggadottir, S Melkorka ; Thomas, Kelly A ; Qui, Haijun ; Chiavacci, Rosetta M ; Kim, Cecilia E ; Wang, Fengxiang ; Snyder, James ; Flatø, Berit ; Førre, Øystein ; Denson, Lee A ; Thompson, Susan D ; Becker, Mara L ; Guthery, Stephen L ; Latiano, Anna ; Perez, Elena ; Resnick, Elena ; Strisciuglio, Caterina ; Staiano, Annamaria ; Miele, Erasmo ; Silverberg, Mark S ; Lie, Benedicte A ; Punaro, Marilynn ; Russell, Richard K ; Wilson, David C ; Dubinsky, Marla C ; Monos, Dimitri S ; Annese, Vito ; Munro, Jane E ; Wise, Carol ; Chapel, Helen ; Cunningham-Rundles, Charlotte ; Orange, Jordan S ; Behrens, Edward M ; Sullivan, Kathleen E ; Kugathasan, Subra ; Griffiths, Anne M ; Satsangi, Jack ; Grant, Struan F A ; Sleiman, Patrick M A ; Finkel, Terri H ; Polychronakos, Constantin ; Baldassano, Robert N ; Luning Prak, Eline T ; Ellis, Justine A ; Li, Hongzhe ; Keating, Brendan J ; Hakonarson, Hakon

Nature communications, 2015-10, Vol.6 (1), p.8442, Article 8442 [Periódico revisado por pares]

England: Nature Publishing Group

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