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For: Shields AM, Pagnamenta AT, Pollard AJ, Taylor JC, Allroggen H, Patel SY; OxClinWGS. Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods. Front Immunol 2019;10:1150. [PMID: 31231365 DOI: 10.3389/fimmu.2019.01150] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
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3 Ferla MP, Pagnamenta AT, Koukouflis L, Taylor JC, Marsden BD. Venus: Elucidating the impact of amino acid variants on protein function beyond structure destabilisation. Journal of Molecular Biology 2022. [DOI: 10.1016/j.jmb.2022.167567] [Reference Citation Analysis]
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5 Naesens L, Smet J, Tavernier SJ, Schelstraete P, Hoste L, Lambrecht S, Verhelst H, van der Werff Ten Bosch J, Ferster A, Blumental S, Hilbert P, Kerre T, Vande Walle J, Licht C, Roumenina LT, Stordeur P, Haerynck F. Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency. J Allergy Clin Immunol 2021;147:749-753.e2. [PMID: 32853637 DOI: 10.1016/j.jaci.2020.08.014] [Reference Citation Analysis]
6 Baxley RM, Leung W, Schmit MM, Matson JP, Yin L, Oram MK, Wang L, Taylor J, Hedberg J, Rogers CB, Harvey AJ, Basu D, Taylor JC, Pagnamenta AT, Dreau H, Craft J, Ormondroyd E, Watkins H, Hendrickson EA, Mace EM, Orange JS, Aihara H, Stewart GS, Blair E, Cook JG, Bielinsky AK. Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening. Nat Commun 2021;12:1626. [PMID: 33712616 DOI: 10.1038/s41467-021-21878-x] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]