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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A. Almaas R, et al. Among authors: ytre arne me. J Hepatol. 2023 Oct;79(4):945-954. doi: 10.1016/j.jhep.2023.05.037. Epub 2023 Jun 14. J Hepatol. 2023. PMID: 37328071 Free article.
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D, Gaup HJ, Lilje R, Zetterström RH, Stray-Pedersen A, Rootwelt T, Rinaldo P, Rowe AD, Pettersen RD. Tangeraas T, et al. Among authors: ytre arne m. Int J Neonatal Screen. 2020 Jun 27;6(3):51. doi: 10.3390/ijns6030051. eCollection 2020 Sep. Int J Neonatal Screen. 2020. PMID: 33123633 Free PMC article.
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand J, Gul KA, Erichsen HC, Lundman E, Berge MC, Trømborg AK, Sørgjerd LK, Ytre-Arne M, Hogner S, Halsne R, Gaup HJ, Osnes LT, Kro GAB, Sorte HS, Mørkrid L, Rowe AD, Tangeraas T, Jørgensen JV, Alme C, Bjørndalen TEH, Rønnestad AE, Lang AM, Rootwelt T, Buechner J, Øverland T, Abrahamsen TG, Pettersen RD, Stray-Pedersen A. Strand J, et al. Among authors: ytre arne m. Front Immunol. 2020 Jul 9;11:1417. doi: 10.3389/fimmu.2020.01417. eCollection 2020. Front Immunol. 2020. PMID: 32754152 Free PMC article.