- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez… See abstract for full author list ➔ Crow YJ, et al. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
- Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.
Livingston JH, Crow YJ. Livingston JH, et al. Neuropediatrics. 2016 Dec;47(6):355-360. doi: 10.1055/s-0036-1592307. Epub 2016 Sep 19. Neuropediatrics. 2016. PMID: 27643693 Review.
- Characterisation of Aicardi-Goutières syndrome.
Krägeloh-Mann I. Krägeloh-Mann I. Lancet Neurol. 2013 Dec;12(12):1131-2. doi: 10.1016/S1474-4422(13)70262-X. Epub 2013 Oct 30. Lancet Neurol. 2013. PMID: 24183310 No abstract available.
- Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.
Cuadrado E, Michailidou I, van Bodegraven EJ, Jansen MH, Sluijs JA, Geerts D, Couraud PO, De Filippis L, Vescovi AL, Kuijpers TW, Hol EM. Cuadrado E, et al. J Immunol. 2015 Apr 15;194(8):3623-33. doi: 10.4049/jimmunol.1401334. Epub 2015 Mar 13. J Immunol. 2015. PMID: 25769924
- Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
Liu A, Ying S. Liu A, et al. Scand J Immunol. 2023 Oct;98(4):e13314. doi: 10.1111/sji.13314. Epub 2023 Jul 29. Scand J Immunol. 2023. PMID: 37515439 Review.