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Page 1
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Among authors: cibin p. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.
Filaggrin loss-of-function mutations are associated with persistence of egg and milk allergy.
Kalb B, Marenholz I, Jeanrenaud ACSN, Meixner L, Arnau-Soler A, Rosillo-Salazar OD, Ghauri A, Cibin P, Blümchen K, Schlags R, Hansen G, Seidenberg J, Keil T, Lau S, Niggemann B, Beyer K, Lee YA. Kalb B, et al. Among authors: cibin p. J Allergy Clin Immunol. 2022 Nov;150(5):1125-1134. doi: 10.1016/j.jaci.2022.05.018. Epub 2022 Jun 15. J Allergy Clin Immunol. 2022. PMID: 35714843 Free article.