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Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.
Acharya T, Firth HV, Dugar S, Grammatikopoulos T, Seabra L, Walters A, Crow YJ, Parker APJ. Acharya T, et al. Among authors: grammatikopoulos t. Mol Genet Genomic Med. 2021 Dec;9(12):e1708. doi: 10.1002/mgg3.1708. Epub 2021 Jun 10. Mol Genet Genomic Med. 2021. PMID: 34110109 Free PMC article.
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.
Grammatikopoulos T, Sambrotta M, Strautnieks S, Foskett P, Knisely AS, Wagner B, Deheragoda M, Starling C, Mieli-Vergani G, Smith J; University of Washington Center for Mendelian Genomics; Bull L, Thompson RJ. Grammatikopoulos T, et al. J Hepatol. 2016 Dec;65(6):1179-1187. doi: 10.1016/j.jhep.2016.07.017. Epub 2016 Jul 25. J Hepatol. 2016. PMID: 27469900 Free PMC article.
Mutations in TJP2 cause progressive cholestatic liver disease.
Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G; University of Washington Center for Mendelian Genomics; Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ. Sambrotta M, et al. Among authors: grammatikopoulos t. Nat Genet. 2014 Apr;46(4):326-8. doi: 10.1038/ng.2918. Epub 2014 Mar 9. Nat Genet. 2014. PMID: 24614073 Free PMC article.
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology.
Hegarty R, Gibson P, Sambrotta M, Strautnieks S, Foskett P, Ellard S, Baptista J, Lillis S, Bansal S, Vara R, Dhawan A, Grammatikopoulos T, Thompson RJ. Hegarty R, et al. Among authors: grammatikopoulos t. J Pediatr. 2021 Sep;236:124-130. doi: 10.1016/j.jpeds.2021.05.041. Epub 2021 May 21. J Pediatr. 2021. PMID: 34023347
Respiratory problems associated with liver disease in children.
Ellis J, Grammatikopoulos T, Cook J, Deep A. Ellis J, et al. Among authors: grammatikopoulos t. Breathe (Sheff). 2024 Mar;20(1):230150. doi: 10.1183/20734735.0150-2023. Epub 2024 Apr 9. Breathe (Sheff). 2024. PMID: 38595937 Free PMC article. Review.
71 results