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Page 1
Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.
Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, Nelson C, DiMaggio T, Jones N, Rosenzweig SD, Stone KD, Freeman AF, Holland SM, Hanover JA, Milner JD, Lyons JJ. Carlson RJ, et al. J Allergy Clin Immunol. 2017 Jul;140(1):291-294.e4. doi: 10.1016/j.jaci.2016.12.951. Epub 2017 Jan 4. J Allergy Clin Immunol. 2017. PMID: 28063873 Free PMC article. No abstract available.
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.
Lyons JJ, Yu X, Hughes JD, Le QT, Jamil A, Bai Y, Ho N, Zhao M, Liu Y, O'Connell MP, Trivedi NN, Nelson C, DiMaggio T, Jones N, Matthews H, Lewis KL, Oler AJ, Carlson RJ, Arkwright PD, Hong C, Agama S, Wilson TM, Tucker S, Zhang Y, McElwee JJ, Pao M, Glover SC, Rothenberg ME, Hohman RJ, Stone KD, Caughey GH, Heller T, Metcalfe DD, Biesecker LG, Schwartz LB, Milner JD. Lyons JJ, et al. Among authors: carlson rj. Nat Genet. 2016 Dec;48(12):1564-1569. doi: 10.1038/ng.3696. Epub 2016 Oct 17. Nat Genet. 2016. PMID: 27749843 Free PMC article.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, Arnthórsson AÖ, Sokolov M, Gilony D, Lipschitz N, Frydman M, Davidov B, Macarov M, Sagi M, Vinkler C, Poran H, Sharony R, Samra N, Zvi N, Baris-Feldman H, Singer A, Handzel O, Hertzano R, Ali-Naffaa D, Ruhrman-Shahar N, Madgar O, Sofrin-Drucker E, Peleg A, Khayat M, Shohat M, Basel-Salmon L, Pras E, Lev D, Wolf M, Steingrimsson E, Shomron N, Kelley MW, Kanaan MN, Allon-Shalev S, King MC, Avraham KB. Brownstein Z, et al. Clin Genet. 2020 Oct;98(4):353-364. doi: 10.1111/cge.13817. Epub 2020 Aug 24. Clin Genet. 2020. PMID: 33111345 Free PMC article.
Genomic analysis of inherited hearing loss in the Palestinian population.
Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C, Dweik D, Jaraysa T, Rabie G, Carlson RJ, Gulsuner S, Lee MK, Avraham KB, Walsh T, King MC, Kanaan MN. Abu Rayyan A, et al. Among authors: carlson rj. Proc Natl Acad Sci U S A. 2020 Aug 18;117(33):20070-20076. doi: 10.1073/pnas.2009628117. Epub 2020 Aug 3. Proc Natl Acad Sci U S A. 2020. PMID: 32747562 Free PMC article.
Classification and functional characterization of regulators of intracellular STING trafficking identified by genome-wide optical pooled screening.
Gentili M, Carlson RJ, Liu B, Hellier Q, Andrews J, Qin Y, Blainey PC, Hacohen N. Gentili M, et al. Among authors: carlson rj. bioRxiv [Preprint]. 2024 Apr 9:2024.04.07.588166. doi: 10.1101/2024.04.07.588166. bioRxiv. 2024. Update in: Cell Syst. 2024 Dec 18;15(12):1264-1277.e8. doi: 10.1016/j.cels.2024.11.004 PMID: 38645119 Free PMC article. Updated. Preprint.
59 results