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Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
Sun Kuehn, Hye, Ouyang, Weiming, Lo, Bernice, Deenick, Elissa K., Niemela, Julie E., Avery, Danielle T., Schickel, Jean-Nicolas, Tran, Dat Q., Stoddard, Jennifer, Zhang, Yu, Frucht, David M., Dumitriu, Bogdan, Scheinberg, Phillip, Folio, Les R., Frein, Cathleen A., Price, Susan, Koh, Christopher, Heller, Theo, Seroogy, Christine M., Huttenlocher, Anna, Rao, V. Koneti, Su, Helen C., Kleiner, David, Notarangelo, Luigi D., Rampertaap, Yajesh, Olivier, Kenneth N., McElwee, Joshua, Hughes, Jason, Pittaluga, Stefania, Oliveira, Joao B., Meffre, Eric, Fleisher, Thomas A., Holland, Steven M., Lenardo, Michael J., Tangye, Stuart G., Uzel, Gulbu
Published in Science (American Association for the Advancement of Science) (26.09.2014)
Published in Science (American Association for the Advancement of Science) (26.09.2014)
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Journal Article
Germline‐targeting immunogens
Stamatatos, Leonidas, Pancera, Marie, McGuire, Andrew T.
Published in Immunological reviews (01.01.2017)
Published in Immunological reviews (01.01.2017)
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Journal Article
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations
Hoshino, Akihiro, Okada, Satoshi, Yoshida, Kenichi, Nishida, Naonori, Okuno, Yusuke, Ueno, Hiroo, Yamashita, Motoi, Okano, Tsubasa, Tsumura, Miyuki, Nishimura, Shiho, Sakata, Sonoko, Kobayashi, Masao, Nakamura, Haruna, Kamizono, Junji, Mitsui-Sekinaka, Kanako, Ichimura, Takuya, Ohga, Shouichi, Nakazawa, Yozo, Takagi, Masatoshi, Imai, Kohsuke, Shiraishi, Yuichi, Chiba, Kenichi, Tanaka, Hiroko, Miyano, Satoru, Ogawa, Seishi, Kojima, Seiji, Nonoyama, Shigeaki, Morio, Tomohiro, Kanegane, Hirokazu
Published in Journal of allergy and clinical immunology (01.07.2017)
Published in Journal of allergy and clinical immunology (01.07.2017)
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Journal Article
Germline Genetic Features of Young Individuals With Colorectal Cancer
Stoffel, Elena M., Koeppe, Erika, Everett, Jessica, Ulintz, Peter, Kiel, Mark, Osborne, Jenae, Williams, Linford, Hanson, Kristen, Gruber, Stephen B., Rozek, Laura S.
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2018)
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2018)
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Journal Article
A Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN
Komiya, Takefumi, Blumenthal, Gideon M., DeChowdhury, Roopa, Fioravanti, Susan, Ballas, Marc S., Morris, John, Hornyak, Thomas J., Wank, Stephen, Hewitt, Stephen M., Morrow, Betsy, Memmott, Regan M., Rajan, Arun, Dennis, Phillip A.
Published in The oncologist (Dayton, Ohio) (01.12.2019)
Published in The oncologist (Dayton, Ohio) (01.12.2019)
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Journal Article
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity
Surolia, Ira, Pirnie, Stephan P., Chellappa, Vasant, Taylor, Kendra N., Cariappa, Annaiah, Moya, Jesse, Liu, Haoyuan, Bell, Daphne W., Driscoll, David R., Diederichs, Sven, Haider, Khaleda, Netravali, Ilka, Le, Sheila, Elia, Roberto, Dow, Ethan, Lee, Annette, Freudenberg, Jan, De Jager, Philip L., Chretien, Yves, Varki, Ajit, MacDonald, Marcy E., Gillis, Tammy, Behrens, Timothy W., Bloch, Donald, Collier, Deborah, Korzenik, Joshua, Podolsky, Daniel K., Hafler, David, Murali, Mandakolathur, Sands, Bruce, Stone, John H., Gregersen, Peter K., Pillai, Shiv
Published in Nature (London) (08.07.2010)
Published in Nature (London) (08.07.2010)
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Journal Article
Germline Mutations in HOXB13 and Prostate-Cancer Risk
Ewing, Charles M, Ray, Anna M, Lange, Ethan M, Zuhlke, Kimberly A, Robbins, Christiane M, Tembe, Waibhav D, Wiley, Kathleen E, Isaacs, Sarah D, Isaacs, William B, Johng, Dorhyun, Wang, Yunfei, Bizon, Chris, Yan, Guifang, Gielzak, Marta, Partin, Alan W, Shanmugam, Vijayalakshmi, Izatt, Tyler, Sinari, Shripad, Craig, David W, Zheng, S. Lilly, Walsh, Patrick C, Montie, James E, Xu, Jianfeng, Carpten, John D, Cooney, Kathleen A
Published in The New England journal of medicine (12.01.2012)
Published in The New England journal of medicine (12.01.2012)
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Journal Article
356P Biallelic MUTYH germline inactivation in patients with colon polyposis and subjects with sporadic colorectal cancer
Imyanitov, E., Martianov, A., Chuinyshena, S., Gorgul, Y., Kuligina, E.S., Laidus, T., Suspitsin, E., Togo, A., Yanus, G.
Published in Annals of oncology (01.09.2022)
Published in Annals of oncology (01.09.2022)
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Journal Article
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion
Trivellin, Giampaolo, Daly, Adrian F., Hernández-Ramírez, Laura C., Araldi, Elisa, Tatsi, Christina, Dale, Ryan K., Fridell, Gus, Mittal, Arjun, Faucz, Fabio R., Iben, James R., Li, Tianwei, Vitali, Eleonora, Stojilkovic, Stanko S., Kamenicky, Peter, Villa, Chiara, Baussart, Bertrand, Chittiboina, Prashant, Toro, Camilo, Gahl, William A., Eugster, Erica A., Naves, Luciana A., Jaffrain-Rea, Marie-Lise, de Herder, Wouter W., Neggers, Sebastian JCMM, Petrossians, Patrick, Beckers, Albert, Lania, Andrea G., Mains, Richard E., Eipper, Betty A., Stratakis, Constantine A.
Published in Frontiers in endocrinology (Lausanne) (14.06.2023)
Published in Frontiers in endocrinology (Lausanne) (14.06.2023)
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Journal Article
Web Resource
Breast cancers arising in subjects with germline BRCA1 or BRCA2 mutations: Different biological and clinical entities with potentially diverse therapeutic opportunities
Zattarin, Emma, Taglialatela, Ida, Lobefaro, Riccardo, Leporati, Rita, Fucà, Giovanni, Ligorio, Francesca, Sposetti, Caterina, Provenzano, Leonardo, Azzollini, Jacopo, Vingiani, Andrea, Ferraris, Cristina, Martelli, Gabriele, Manoukian, Siranoush, Pruneri, Giancarlo, de Braud, Filippo, Vernieri, Claudio
Published in Critical reviews in oncology/hematology (01.10.2023)
Published in Critical reviews in oncology/hematology (01.10.2023)
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Journal Article
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma
Pennington, Kathryn P., Walsh, Tom, Lee, Ming, Pennil, Christopher, Novetsky, Akiva P., Agnew, Kathy J., Thornton, Anne, Garcia, Rochelle, Mutch, David, King, Mary‐Claire, Goodfellow, Paul, Swisher, Elizabeth M.
Published in Cancer (15.01.2013)
Published in Cancer (15.01.2013)
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Journal Article
Endogenous retroviruses drive species-specific germline transcriptomes in mammals
Sakashita, Akihiko, Maezawa, So, Takahashi, Kazuki, Alavattam, Kris G., Yukawa, Masashi, Hu, Yueh-Chiang, Kojima, Shohei, Parrish, Nicholas F., Barski, Artem, Pavlicev, Mihaela, Namekawa, Satoshi H.
Published in Nature structural & molecular biology (01.10.2020)
Published in Nature structural & molecular biology (01.10.2020)
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Journal Article
Germline multigene panel testing in acute and chronic pancreatitis
Ramsey, Mitchell L., Heald, Brandie, Gokun, Yevgeniya, Baker, Josie, Groce, J. Royce, Han, Samuel, Hart, Phil A., Krishna, Somashekar G., Lara, Luis F., Lee, Peter J., Papachristou, Georgios I., Pearlman, Rachel, Poll, Sarah, Roberts, Maegan E., Stanich, Peter P.
Published in PloS one (22.08.2024)
Published in PloS one (22.08.2024)
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Journal Article
Germline variants in urothelial carcinoma: Analysis of pathogenic and likely pathogenic variants in 645 subjects
Abou Alaiwi, Sarah, Nassar, Amin, Mouw, Kent William, Kwiatkowski, David J., Choueiri, Toni K., Curran, Catherine, Van Allen, Eliezer Mendel, Esplin, Edward D., Yang, Shan, Garber, Judy Ellen, Rana, Huma Q., Sonpavde, Guru
Published in Journal of clinical oncology (20.05.2019)
Published in Journal of clinical oncology (20.05.2019)
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Journal Article
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion
Trivellin, Giampaolo, Daly, Adrian, Hernández-Ramírez, Laura, Araldi, Elisa, Tatsi, Christina, Dale, Ryan, Fridell, Gus, Mittal, Arjun, Faucz, Fabio, Iben, James, Li, Tianwei, Vitali, Eleonora, Stojilkovic, Stanko, Kamenicky, Peter, Villa, Chiara, Baussart, Bertrand, Chittiboina, Prashant, Toro, Camilo, Gahl, William, Eugster, Erica, Naves, Luciana, Jaffrain-Rea, Marie-Lise, de Herder, Wouter, Neggers, Sebastian Jcmm, Petrossians, Patrick, Beckers, Albert, Lania, Andrea, Mains, Richard, Eipper, Betty, Stratakis, Constantine
Published in Frontiers in endocrinology (Lausanne) (20.01.2023)
Published in Frontiers in endocrinology (Lausanne) (20.01.2023)
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Journal Article