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autoimmune diseases
- Myasthenia gravis genome-wide association study implicates AGRN as a risk locusApostolia Topaloudi, Zoi Zagoriti, Alyssa Camille Flint, Melanie Belle Martinez, Zhiyu Yang, Fotis Tsetsos, Yiolanda-Panayiota Christou, George Lagoumintzis, Evangelia Yannaki, Eleni Zamba-Papanicolaou, John Tzartos, Xanthippi Tsekmekidou, Kalliopi Kotsa, Efstratios Maltezos, Nikolaos Papanas, Dimitrios Papazoglou, Ploumis Passadakis, Athanasios Roumeliotis, Stefanos Roumeliotis, Marios Theodoridis, Elias Thodis, Stylianos Panagoutsos, John Yovos, John Stamatoyannopoulos, Konstantinos Poulas, Kleopas Kleopa, Socrates Tzartos, Marianthi Georgitsi, Peristera PaschouJournal of Medical Genetics Aug 2022, 59 (8) 801-809; DOI: 10.1136/jmedgenet-2021-107953
- DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activationLev Prasov, Brenda L Bohnsack, Antonette S El Husny, Lam C Tsoi, Bin Guan, J Michelle Kahlenberg, Edmundo Almeida, Haitao Wang, Edward W Cowen, Adriana A De Jesus, Priyam Jani, Allison C Billi, Sayoko E Moroi, Rachael Wasikowski, Izabela Almeida, Luciana N Almeida, Fernando Kok, Sarah J Garnai, Shahzad I Mian, Marcus Y Chen, Blake M Warner, Carlos R Ferreira, Raphaela Goldbach-Mansky, Sun Hur, Brian P Brooks, Julia E Richards, Robert B Hufnagel, Johann E GudjonssonJournal of Medical Genetics Mar 2022, 59 (3) 294-304; DOI: 10.1136/jmedgenet-2020-107447
- Haploinsufficiency of the NF1 gene is associated with protection against diabetesRoope A Kallionpää, Sirkku Peltonen, Jussi Leppävirta, Minna Pöyhönen, Kari Auranen, Hannu Järveläinen, Juha PeltonenJournal of Medical Genetics Jun 2021, 58 (6) 378-384; DOI: 10.1136/jmedgenet-2020-107062
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