Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
Mina, Erika Della, Borghesi, Alessandro, Zhou, Hao, Bougarn, Salim, Boughorbel, Sabri, Israel, Laura, Meloni, Ilaria, Chrabieh, Maya, Ling, Yun, Itan, Yuval, Renieri, Alessandra, Mazzucchelli, Iolanda, Basso, Sabrina, Pavone, Piero, Falsaperla, Raffaele, Ciccone, Roberto, Cerbo, Rosa Maria, Stronati, Mauro, Picard, Capucine, Zuffardi, Orsetta, Abel, Laurent, Chaussabel, Damien, Marr, Nico, Li, Xiaoxia, Casanova, Jean-Laurent, Puel, Anne
Published in Proceedings of the National Academy of Sciences - PNAS (24.01.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (24.01.2017)
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Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects
Resta, Nicoletta, Giorda, Roberto, Bagnulo, Rosanna, Beri, Silvana, Mina, Erika Della, Stella, Alessandro, Piglionica, Marilidia, Susca, Francesco Claudio, Guanti, Ginevra, Zuffardi, Orsetta, Ciccone, Roberto
Published in Human genetics (01.10.2010)
Published in Human genetics (01.10.2010)
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Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity
Della Mina, Erika, Guérin, Antoine, Tangye, Stuart G.
Published in Stem cells (Dayton, Ohio) (01.04.2021)
Published in Stem cells (Dayton, Ohio) (01.04.2021)
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Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency
Lévy, Romain, Okada, Satoshi, Béziat, Vivien, Moriya, Kunihiko, Liu, Caini, Chai, Louis Yi Ann, Migaud, Mélanie, Hauck, Fabian, Ali, Amein Al, Cyrus, Cyril, Vatte, Chittibabu, Patiroglu, Turkan, Unal, Ekrem, Ferneiny, Marie, Hyakuna, Nobuyuki, Nepesov, Serdar, Oleastro, Matias, Ikinciogullari, Aydan, Dogu, Figen, Asano, Takaki, Ohara, Osamu, Yun, Ling, Mina, Erika Della, Bronnimann, Didier, Itan, Yuval, Gothe, Florian, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Tahuil, Natalia, Aytekin, Caner, Salhi, Aicha, Muhsen, Saleh Al, Kobayashi, Masao, Toubiana, Julie, Abel, Laurent, Li, Xiaoxia, Camcioglu, Yildiz, Celmeli, Fatih, Klein, Christoph, AlKhater, Suzan A., Casanova, Jean-Laurent, Puel, Anne
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (20.12.2016)
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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A
Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I, Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P, Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A, Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A, McMillan, Hugh J, Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J
Published in The Journal of experimental medicine (04.10.2021)
Published in The Journal of experimental medicine (04.10.2021)
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A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
Huynh, Aimee, Gray, Paul E, Sullivan, Anna, Mackie, Joseph, Guerin, Antoine, Rao, Geetha, Pathmanandavel, Karrnan, Mina, Erika Della, Hollway, Georgina, Hobbs, Matthew, Enthoven, Karen, O’Young, Patrick, McManus, Sam, Wainwright, Luke H., Higgins, Megan, Noon, Fallon, Wong, Melanie, Bastard, Paul, Zhang, Qian, Casanova, Jean-Laurent, Hsiao, Kuang-Chih, Pinzon-Charry, Alberto, Ma, Cindy S, Tangye, Stuart G.
Published in Journal of clinical immunology (01.12.2024)
Published in Journal of clinical immunology (01.12.2024)
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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
Della Mina, Erika, Ciccone, Roberto, Brustia, Francesca, Bayindir, Baran, Limongelli, Ivan, Vetro, Annalisa, Iascone, Maria, Pezzoli, Laura, Bellazzi, Riccardo, Perotti, Gianfranco, De Giorgis, Valentina, Lunghi, Simona, Coppola, Giangennaro, Orcesi, Simona, Merli, Pietro, Savasta, Salvatore, Veggiotti, Pierangelo, Zuffardi, Orsetta
Published in European journal of human genetics : EJHG (01.03.2015)
Published in European journal of human genetics : EJHG (01.03.2015)
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Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity
Israel, Laura, Wang, Ying, Bulek, Katarzyna, Della Mina, Erika, Zhang, Zhao, Pedergnana, Vincent, Chrabieh, Maya, Lemmens, Nicole A., Sancho-Shimizu, Vanessa, Descatoire, Marc, Lasseau, Théo, Israelsson, Elisabeth, Lorenzo, Lazaro, Yun, Ling, Belkadi, Aziz, Moran, Andrew, Weisman, Leonard E., Vandenesch, François, Batteux, Frederic, Weller, Sandra, Levin, Michael, Herberg, Jethro, Abhyankar, Avinash, Prando, Carolina, Itan, Yuval, van Wamel, Willem J.B., Picard, Capucine, Abel, Laurent, Chaussabel, Damien, Li, Xiaoxia, Beutler, Bruce, Arkwright, Peter D., Casanova, Jean-Laurent, Puel, Anne
Published in Cell (23.02.2017)
Published in Cell (23.02.2017)
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XX males SRY negative: a confirmed cause of infertility
Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Patricelli, Maria Grazia, Della Mina, Erika, Forlino, Antonella, Zuffardi, Orsetta
Published in Journal of medical genetics (01.10.2011)
Published in Journal of medical genetics (01.10.2011)
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A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome
Della Mina, Erika, Jackson, Katherine J. L., Crawford, Alexander J. I., Faulks, Megan L., Pathmanandavel, Karrnan, Acquarola, Nicolino, O’Sullivan, Michael, Kerre, Tessa, Naesens, Leslie, Claes, Karlien, Goodnow, Christopher C., Haerynck, Filomeen, Kracker, Sven, Meyts, Isabelle, D’Orsogna, Lloyd J., Ma, Cindy S., Tangye, Stuart G.
Published in Journal of clinical immunology (01.03.2024)
Published in Journal of clinical immunology (01.03.2024)
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A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield
Kermode, William, De Santis, Dianne, Truong, Linh, Della Mina, Erika, Salman, Sam, Thompson, Grace, Nolan, David, Loh, Richard, Mallon, Dominic, Mclean-Tooke, Andrew, John, Mina, Tangye, Stuart G., O'Sullivan, Michael, D'Orsogna, Lloyd J.
Published in The Journal of molecular diagnostics : JMD (01.06.2022)
Published in The Journal of molecular diagnostics : JMD (01.06.2022)
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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha, Ruivenkamp, Claudia, Bertrand, Mary, de Ravel, Thomy J L, Jayakar, Parul, Belli, Serena, Rocchetti, Katia, Pantaleoni, Chiara, D'Arrigo, Stefano, Hughes, Jeff, Cheung, Sau Wai, Zuffardi, Orsetta, Stankiewicz, Pawel
Published in European journal of human genetics : EJHG (01.01.2011)
Published in European journal of human genetics : EJHG (01.01.2011)
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Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association
Vetro, Annalisa, Iascone, Maria, Limongelli, Ivan, Ameziane, Najim, Gana, Simone, Mina, Erika Della, Giussani, Ursula, Ciccone, Roberto, Forlino, Antonella, Pezzoli, Laura, Rooimans, Martin A., van Essen, Antoni J., Messa, Jole, Rizzuti, Tommaso, Bianchi, Paolo, Dorsman, Josephine, de Winter, Johan P., Lalatta, Faustina, Zuffardi, Orsetta
Published in Human mutation (01.05.2015)
Published in Human mutation (01.05.2015)
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Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation
Di Fonzo, Alessio, Ronchi, Dario, Gallia, Francesca, Cribiù, Fulvia Milena, Trezzi, Ilaria, Vetro, Annalisa, Della Mina, Erika, Limongelli, Ivan, Bellazzi, Riccardo, Ricca, Ivana, Micieli, Giuseppe, Fassone, Elisa, Rizzuti, Mafalda, Bordoni, Andreina, Fortunato, Francesco, Salani, Sabrina, Mora, Gabriele, Corti, Stefania, Ceroni, Mauro, Bosari, Silvano, Zuffardi, Orsetta, Bresolin, Nereo, Nobile-Orazio, Eduardo, Comi, Giacomo Pietro
Published in Neurology (03.06.2014)
Published in Neurology (03.06.2014)
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Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1)
Matute, Esmeralda, Inozemtseva, Olga, Aguilar-Lemarroy, Adriana, Jave-Suarez, Luis F, Della Mina, Erika, Zuffardi, Orsetta, Rivera, Horacio
Published in Cognitive and behavioral neurology (01.09.2012)
Published in Cognitive and behavioral neurology (01.09.2012)
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Common structural features characterize interstitial intrachromosomal Xp and 18q triplications
Giorda, Roberto, Beri, Silvana, Bonaglia, M. Clara, Spaccini, Luigina, Scelsa, Barbara, Manolakos, Emmanouil, Mina, Erika Della, Ciccone, Roberto, Zuffardi, Orsetta
Published in American journal of medical genetics. Part A (01.11.2011)
Published in American journal of medical genetics. Part A (01.11.2011)
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Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm
Losa, Laura, Della Mina, Erika, Cisternino, Mariangela, Madè, Alexandra, Rossetti, Giulia, Bassi, Lorenzo Andrea, Pieri, Giovanni, Bayindir, Baran, Messa, Jole, Zuffardi, Orsetta, Ciccone, Roberto
Published in Case reports in genetics (01.01.2013)
Published in Case reports in genetics (01.01.2013)
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Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
Huynh, Aimee, E Gray, Paul, Sullivan, Anna, Mackie, Joseph, Guerin, Antoine, Rao, Geetha, Pathmanandavel, Karrnan, Della Mina, Erika, Hollway, Georgina, Hobbs, Matthew, Enthoven, Karen, O’Young, Patrick, McManus, Sam, H. Wainwright, Luke, Higgins, Megan, Noon, Fallon, Wong, Melanie, Bastard, Paul, Zhang, Qian, Casanova, Jean-Laurent, Hsiao, Kuang-Chih, Pinzon-Charry, Alberto, S Ma, Cindy, G. Tangye, Stuart
Published in Journal of clinical immunology (19.09.2024)
Published in Journal of clinical immunology (19.09.2024)
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