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Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, Worth A, Notarangelo LD, Felgentreff K, Cortes P, Boisson B, Radigan L, Cobat A, Dinakar C, Ehlayel M, Ben-Omran T, Gelfand EW, Casanova JL, Cunningham-Rundles C. Maffucci P, et al. Among authors: reynolds pr. J Clin Invest. 2018 Dec 3;128(12):5489-5504. doi: 10.1172/JCI99629. Epub 2018 Nov 5. J Clin Invest. 2018. PMID: 30395541 Free PMC article.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: reynolds pr. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A.
Hu G, Hauk PJ, Zhang N, Elsegeiny W, Guardia CM, Kullas A, Crosby K, Deterding RR, Schedel M, Reynolds P, Abbott JK, Knight V, Pittaluga S, Raffeld M, Rosenzweig SD, Bonifacino JS, Uzel G, Williamson PR, Gelfand EW. Hu G, et al. Among authors: reynolds p. Autophagy. 2023 Feb;19(2):678-691. doi: 10.1080/15548627.2022.2093028. Epub 2022 Jul 15. Autophagy. 2023. PMID: 35838483 Free PMC article.
Methylation of cysteinyl leukotriene receptor 1 genes associates with lung function in asthmatics exposed to traffic-related air pollution.
Rabinovitch N, Jones MJ, Gladish N, Faino AV, Strand M, Morin AM, MacIsaac J, Lin DTS, Reynolds PR, Singh A, Gelfand EW, Kobor MS, Carlsten C. Rabinovitch N, et al. Among authors: reynolds pr. Epigenetics. 2021 Jan-Feb;16(2):177-185. doi: 10.1080/15592294.2020.1790802. Epub 2020 Jul 12. Epigenetics. 2021. PMID: 32657253 Free PMC article. Clinical Trial.
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg ND, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: reynolds pr. Nat Genet. 2017 Oct 27;49(11):1661. doi: 10.1038/ng1117-1661b. Nat Genet. 2017. PMID: 29074947
147 results