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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 14
2023 9
2024 2

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90 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.
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.
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.
Primary SARS-CoV-2 infection in patients with immune-mediated inflammatory diseases: long-term humoral immune responses and effects on disease activity.
van Dam KPJ, Volkers AG, Wieske L, Stalman EW, Kummer LYL, van Kempen ZLE, Killestein J, Tas SW, Boekel L, Wolbink GJ, van der Kooi AJ, Raaphorst J, 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, Ten Brinke A, Verstegen NJM, van Ham SM, Rispens T, Kuijpers TW, Löwenberg M, Eftimov F; T2B! Immunity against SARS-CoV-2 study group. van Dam KPJ, et al. Among authors: raaphorst j. BMC Infect Dis. 2023 May 17;23(1):332. doi: 10.1186/s12879-023-08298-6. BMC Infect Dis. 2023. PMID: 37198536 Free PMC article.
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Bugiardini E, Nunes AM, Oliveira-Santos A, Dagda M, Fontelonga TM, Barraza-Flores P, Pittman AM, Morrow JM, Parton M, Houlden H, Elliott PM, Syrris P, Maas RP, Akhtar MM, Küsters B, Raaphorst J, Schouten M, Kamsteeg EJ, van Engelen B, Hanna MG, Phadke R, Lopes LR, Matthews E, Burkin DJ. Bugiardini E, et al. Among authors: raaphorst j. J Am Heart Assoc. 2022 Dec 6;11(23):e026494. doi: 10.1161/JAHA.122.026494. Epub 2022 Nov 29. J Am Heart Assoc. 2022. PMID: 36444867 Free PMC article.
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
Brain imaging in myotonic dystrophy type 1: A systematic review.
Okkersen K, Monckton DG, Le N, Tuladhar AM, Raaphorst J, van Engelen BGM. Okkersen K, et al. Among authors: raaphorst j. Neurology. 2017 Aug 29;89(9):960-969. doi: 10.1212/WNL.0000000000004300. Epub 2017 Aug 2. Neurology. 2017. PMID: 28768849 Review.
90 results