Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia
Conte, Matilde I, Poli, M Cecilia, Taglialatela, Angelo, Leuzzi, Giuseppe, Chinn, Ivan K, Salinas, Sandra A, Rey-Jurado, Emma, Olivares, Nixa, Veramendi-Espinoza, Liz, Ciccia, Alberto, Lupski, James R, Aldave Becerra, Juan Carlos, Mace, Emily M, Orange, Jordan S
Published in JCI insight (08.11.2022)
Published in JCI insight (08.11.2022)
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Journal Article
An ELF4 hypomorphic variant results in NK cell deficiency
Salinas, Sandra Andrea, Mace, Emily M, Conte, Matilde I, Park, Chun Shik, Li, Yu, Rosario-Sepulveda, Joshua I, Mahapatra, Sanjana, Moore, Emily K, Hernandez, Evelyn R, Chinn, Ivan K, Reed, Abigail E, Lee, Barclay J, Frumovitz, Alexander, Gibbs, Richard A, Posey, Jennifer E, Forbes Satter, Lisa R, Thatayatikom, Akaluck, Allenspach, Eric J, Wensel, Theodore G, Lupski, James R, Lacorazza, H Daniel, Orange, Jordan S
Published in JCI insight (08.12.2022)
Published in JCI insight (08.12.2022)
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Journal Article
Opportunities and tradeoffs in single-cell transcriptomic technologies
Conte, Matilde I, Fuentes-Trillo, Azahara, Domínguez Conde, Cecilia
Published in Trends in genetics (01.01.2024)
Published in Trends in genetics (01.01.2024)
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Journal Article
SARS-CoV-2 infection induces DNA damage, through CHK1 degradation and impaired 53BP1 recruitment, and cellular senescence
Gioia, Ubaldo, Tavella, Sara, Martínez-Orellana, Pamela, Cicio, Giada, Colliva, Andrea, Ceccon, Marta, Cabrini, Matteo, Henriques, Ana C., Fumagalli, Valeria, Paldino, Alessia, Presot, Ettore, Rajasekharan, Sreejith, Iacomino, Nicola, Pisati, Federica, Matti, Valentina, Sepe, Sara, Conte, Matilde I., Barozzi, Sara, Lavagnino, Zeno, Carletti, Tea, Volpe, Maria Concetta, Cavalcante, Paola, Iannacone, Matteo, Rampazzo, Chiara, Bussani, Rossana, Tripodo, Claudio, Zacchigna, Serena, Marcello, Alessandro, d’Adda di Fagagna, Fabrizio
Published in Nature cell biology (01.04.2023)
Published in Nature cell biology (01.04.2023)
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Journal Article
Human NK cell deficiency as a result of biallelic mutations in MCM10
Mace, Emily M, Paust, Silke, Conte, Matilde I, Baxley, Ryan M, Schmit, Megan M, Patil, Sagar L, Guilz, Nicole C, Mukherjee, Malini, Pezzi, Ashley E, Chmielowiec, Jolanta, Tatineni, Swetha, Chinn, Ivan K, Akdemir, Zeynep Coban, Jhangiani, Shalini N, Muzny, Donna M, Stray-Pedersen, Asbjørg, Bradley, Rachel E, Moody, Mo, Connor, Philip P, Heaps, Adrian G, Steward, Colin, Banerjee, Pinaki P, Gibbs, Richard A, Borowiak, Malgorzata, Lupski, James R, Jolles, Stephen, Bielinsky, Anja K, Orange, Jordan S
Published in The Journal of clinical investigation (01.10.2020)
Published in The Journal of clinical investigation (01.10.2020)
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Journal Article
CDC45 haploinsufficiency as a novel cause of natural killer cell deficiency
Guilz, Nicole C., Conte, Matilde I, Salinas, S. Andrea, Chinn, Ivan K., Lupski, James R., Mace, Emily M
Published in Clinical immunology (Orlando, Fla.) (01.05.2023)
Published in Clinical immunology (Orlando, Fla.) (01.05.2023)
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Journal Article
Human NK cell deficiency as a result of biallelic mutations in MCM10
Mace, Emily, Paust, Silke, Conte, Matilde I, Baxley, Ryan M, Schmit, Megan, Guilz, Nicole C, Mukherjee, Malini, Pezzi, Ashley E, Chmielowiec, Jolanta, Tatineni, Swetha, Chinn, Ivan K, Zeynep Coban Akdemir, Jhangiani, Shalini N, Muzny, Donna M, Stray-Pedersen, Asbjorg, Bradley, Rachel E, Moody, Mo, Connor, Philip P, Heaps, Adrian G, Steward, Colin, Banerjee, Pinaki P, Gibbs, Richard A, Borowiak, Malgorziata, Lupski, James R, Jolles, Stephen R, Bielinsky, Anja, Orange, Jordan
Published in bioRxiv (07.11.2019)
Published in bioRxiv (07.11.2019)
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