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Year Number of Results
1966 1
1970 1
1974 1
2001 1
2005 2
2006 2
2010 3
2011 1
2012 6
2013 3
2014 3
2015 4
2016 4
2017 10
2018 10
2019 8
2020 7
2021 11
2022 15
2023 4

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86 results

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Page 1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: raaphorst j. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. Snoeck M, et al. Among authors: raaphorst j. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145
Risk factors associated with short-term adverse events after SARS-CoV-2 vaccination in patients with immune-mediated inflammatory diseases.
Wieske L, Kummer LYL, van Dam KPJ, Stalman EW, van der Kooi AJ, Raaphorst J, Löwenberg M, Takkenberg RB, Volkers AG, D'Haens GRAM, Tas SW, Spuls PI, Bekkenk MW, Musters AH, Post NF, Bosma AL, Hilhorst ML, Vegting Y, Bemelman FJ, Killestein J, van Kempen ZLE, Voskuyl AE, Broens B, Sanchez AP, Wolbink G, Boekel L, Rutgers A, de Leeuw K, Horváth B, Verschuuren JJGM, Ruiter AM, van Ouwerkerk L, van der Woude D, Allaart CF, Teng YKO, van Paassen P, Busch MH, Jallah BP, Brusse E, van Doorn PA, Baars AE, Hijnen D, Schreurs CRG, van der Pol WL, Goedee HS, Steenhuis M, Rispens T, Ten Brinke A, Verstegen NJM, Zwinderman KAH, van Ham SM, Kuijpers TW, Eftimov F; T2B! immunity against SARS-CoV-2 study group. Wieske L, et al. Among authors: raaphorst j. BMC Med. 2022 Mar 2;20(1):100. doi: 10.1186/s12916-022-02310-7. BMC Med. 2022. PMID: 35236350 Free PMC article.
Disease activity in patients with immune-mediated inflammatory diseases after SARS-CoV-2 vaccinations.
van Dam KPJ, Wieske L, Stalman EW, Kummer LYL, Roosen J, van Kempen ZLE, Killestein J, Volkers AG, Boekel L, Wolbink GJ, van der Kooi AJ, Raaphorst J, Löwenberg M, Takkenberg RB, D'Haens GRAM, Spuls PI, Bekkenk MW, Musters AH, Post NF, Bosma AL, Hilhorst ML, Vegting Y, Bemelman FJ, Voskuyl AE, Broens B, Sanchez AP, van Els CACM, de Wit J, Rutgers A, de Leeuw K, Horváth B, Verschuuren JJGM, Ruiter AM, van Ouwerkerk L, van der Woude D, Allaart RCF, Teng YKO, van Paassen P, Busch MH, Jallah PBP, Brusse E, van Doorn PA, Baars AE, Hijnen DJ, Schreurs CRG, van der Pol WL, Goedee HS, Steenhuis M, Keijzer S, Keijser JBD, Cristianawati O, Rispens T, Brinke AT, Verstegen NJM, Marieke van Ham S, Tas SW, Kuijpers TW, Eftimov F; T2B! Immunity against SARS-CoV-2 study group. van Dam KPJ, et al. Among authors: raaphorst j. J Autoimmun. 2023 Feb;135:102984. doi: 10.1016/j.jaut.2022.102984. Epub 2023 Jan 2. J Autoimmun. 2023. PMID: 36621174 Free PMC article.
Humoral responses after second and third SARS-CoV-2 vaccination in patients with immune-mediated inflammatory disorders on immunosuppressants: a cohort study.
Wieske L, van Dam KPJ, Steenhuis M, Stalman EW, Kummer LYL, van Kempen ZLE, Killestein J, Volkers AG, Tas SW, Boekel L, Wolbink GJ, van der Kooi AJ, Raaphorst J, Löwenberg M, Takkenberg RB, D'Haens GRAM, Spuls PI, Bekkenk MW, Musters AH, Post NF, Bosma AL, Hilhorst ML, Vegting Y, Bemelman FJ, Voskuyl AE, Broens B, Sanchez AP, van Els CACM, de Wit J, Rutgers A, de Leeuw K, Horváth B, Verschuuren JJGM, Ruiter AM, van Ouwerkerk L, van der Woude D, Allaart RCF, Teng YKO, van Paassen P, Busch MH, Jallah PBP, Brusse E, van Doorn PA, Baars AE, Hijnen DJ, Schreurs CRG, van der Pol WL, Goedee HS, Keijzer S, Keijser JBD, Boogaard A, Cristianawati O, Ten Brinke A, Verstegen NJM, Zwinderman KAH, van Ham SM, Kuijpers TW, Rispens T, Eftimov F; T2B! Immunity against SARS-CoV-2 study group. Wieske L, et al. Among authors: raaphorst j. Lancet Rheumatol. 2022 May;4(5):e338-e350. doi: 10.1016/S2665-9913(22)00034-0. Epub 2022 Mar 17. Lancet Rheumatol. 2022. PMID: 35317410 Free PMC article.
Breakthrough SARS-CoV-2 infections with the delta (B.1.617.2) variant in vaccinated patients with immune-mediated inflammatory diseases using immunosuppressants: a substudy of two prospective cohort studies.
Boekel L, Stalman EW, Wieske L, Hooijberg F, van Dam KPJ, Besten YR, Kummer LYL, Steenhuis M, van Kempen ZLE, Killestein J, Volkers AG, Tas SW, van der Kooi AJ, Raaphorst J, Löwenberg M, Takkenberg RB, D'Haens GRAM, Spuls PI, Bekkenk MW, Musters AH, Post NF, Bosma AL, Hilhorst ML, Vegting Y, Bemelman FJ, Voskuyl AE, Broens B, Parra Sanchez A, van Els CACM, de Wit J, Rutgers A, de Leeuw K, Horváth B, Verschuuren JJGM, Ruiter AM, van Ouwerkerk L, van der Woude D, Allaart CF, Teng YKO, van Paassen P, Busch MH, Jallah PBP, Brusse E, van Doorn PA, Baars AE, Hijnen DJ, Schreurs CRG, van der Pol WL, Goedee HS, Vogelzang EH, Leeuw M, Atiqi S, van Vollenhoven R, Gerritsen M, van der Horst-Bruinsma IE, Lems WF, Nurmohamed MT, Boers M, Keijzer S, Keijser J, van de Sandt C, Boogaard A, Cristianawati O, Ten Brinke A, Verstegen NJM, Zwinderman KAH, van Ham SM, Rispens T, Kuijpers TW, Wolbink G, Eftimov F; T2B! immunity against SARS-CoV-2 study group. Boekel L, et al. Among authors: raaphorst j. Lancet Rheumatol. 2022 Jun;4(6):e417-e429. doi: 10.1016/S2665-9913(22)00102-3. Epub 2022 Apr 29. Lancet Rheumatol. 2022. PMID: 35527808 Free PMC article.
Comprehensive overview of autoantibody isotype and subclass distribution.
Volkov M, Coppola M, Huizinga R, Eftimov F, Huizinga TWJ, van der Kooi AJ, Oosten LEM, Raaphorst J, Rispens T, Sciarrillo R, Titulaer MJ, Wieske L, Toes REM, Huijbers MGM, van Schie KA, van der Woude D; T2B Consortium. Volkov M, et al. Among authors: raaphorst j. J Allergy Clin Immunol. 2022 Nov;150(5):999-1010. doi: 10.1016/j.jaci.2022.05.023. J Allergy Clin Immunol. 2022. PMID: 36336400 Free article. Review.
N-of-1 Trials in Neurology: A Systematic Review.
Stunnenberg BC, Berends J, Griggs RC, Statland J, Drost G, Nikles J, Groenewoud H, van Engelen BGM, van der Wilt GJ, Raaphorst J. Stunnenberg BC, et al. Among authors: raaphorst j. Neurology. 2022 Jan 11;98(2):e174-e185. doi: 10.1212/WNL.0000000000012998. Epub 2021 Oct 21. Neurology. 2022. PMID: 34675101
86 results