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ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, Kanazawa N, Lachmann HJ, Mensa-Vilaro A, Nishikomori R, Oberkanins C, Obici L, Ohara O, Ozen S, Sarkisian T, Sheils K, Wolstenholme N, Zonneveld-Huijssoon E, van Gijn ME, Touitou I. Shinar Y, et al. Among authors: van gijn me. Clin Chem. 2020 Apr 1;66(4):525-536. doi: 10.1093/clinchem/hvaa024. Clin Chem. 2020. PMID: 32176780
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T. Tanaka N, et al. Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512. Arthritis Rheum. 2011. PMID: 21702021 Free PMC article.
Guidelines for the genetic diagnosis of hereditary recurrent fevers.
Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I; European Molecular Genetics Quality Network. Shinar Y, et al. Among authors: van gijn me. Ann Rheum Dis. 2012 Oct;71(10):1599-605. doi: 10.1136/annrheumdis-2011-201271. Epub 2012 Jun 1. Ann Rheum Dis. 2012. PMID: 22661645 Free PMC article.
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I. Van Gijn ME, et al. J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29. J Med Genet. 2018. PMID: 29599418
Classification criteria for autoinflammatory recurrent fevers.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Gattorno M, et al. Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Ann Rheum Dis. 2019. PMID: 31018962 Review.
Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.
Ter Haar NM, Eijkelboom C, Cantarini L, Papa R, Brogan PA, Kone-Paut I, Modesto C, Hofer M, Iagaru N, Fingerhutová S, Insalaco A, Licciardi F, Uziel Y, Jelusic M, Nikishina I, Nielsen S, Papadopoulou-Alataki E, Olivieri AN, Cimaz R, Susic G, Stanevica V, van Gijn M, Vitale A, Ruperto N, Frenkel J, Gattorno M; Eurofever registry and the Pediatric Rheumatology International Trial Organization (PRINTO). Ter Haar NM, et al. Ann Rheum Dis. 2019 Oct;78(10):1405-1411. doi: 10.1136/annrheumdis-2018-214472. Epub 2019 Jul 5. Ann Rheum Dis. 2019. PMID: 31278138
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M. Papa R, et al. Among authors: van gijn me. Rheumatology (Oxford). 2020 Feb 1;59(2):344-360. doi: 10.1093/rheumatology/kez270. Rheumatology (Oxford). 2020. PMID: 31325311
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