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2019 2
2020 1
2021 6
2022 2
2023 5
2024 0

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Page 1
Advancing diagnosis and management of liver disease in adults through exome sequencing.
Zheng M, Hakim A, Konkwo C, Deaton AM, Ward LD; Alnylam Human Genetics; Silveira MG, Assis DN, Liapakis A, Jaffe A, Jiang ZG, Curry MP, Lai M, Cho MH, Dykas D, Bale A, Mistry PK, Vilarinho S. Zheng M, et al. EBioMedicine. 2023 Sep;95:104747. doi: 10.1016/j.ebiom.2023.104747. Epub 2023 Aug 9. EBioMedicine. 2023. PMID: 37566928 Free PMC article.
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.
Korol CB, Belkaya S, Alsohime F, Lorenzo L, Boisson-Dupuis S, Brancale J, Neehus AL, Vilarinho S, Zobaida A, Halwani R, Al-Muhsen S, Casanova JL, Jouanguy E. Korol CB, et al. J Clin Immunol. 2023 Feb;43(2):406-420. doi: 10.1007/s10875-022-01376-5. Epub 2022 Oct 29. J Clin Immunol. 2023. PMID: 36308662 Free PMC article.
Genomic medicine for liver disease.
Zheng M, Allington G, Vilarinho S. Zheng M, et al. Hepatology. 2022 Sep;76(3):860-868. doi: 10.1002/hep.32364. Epub 2022 Feb 21. Hepatology. 2022. PMID: 35076957 Free PMC article. Review. No abstract available.
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Ali FA, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spaan AN, Rosain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y, Yaguchi T, Chamoto K, Williams SC, Emile JF, Rozenberg F, Glickman MS, Rapaport F, Kerner G, Allington G, Tezcan I, Cagdas D, Hosnut FO, Dogu F, Ikinciogullari A, Rao VK, Kainulainen L, Béziat V, Bustamante J, Vilarinho S, Lifton RP, Boisson B, Abel L, Bogunovic D, Marr N, Notarangelo LD, Tangye SG, Honjo T, Gros P, Boisson-Dupuis S, Casanova JL. Ogishi M, et al. Nat Med. 2021 Sep;27(9):1646-1654. doi: 10.1038/s41591-021-01388-5. Epub 2021 Jun 28. Nat Med. 2021. PMID: 34183838 Free PMC article.
15 results