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Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C, Silva L, Pereira C, Vieira L, Leão Teles E, Rodrigues E, Campos T, Janeiro P, Gaspar A, Dupont J, Bandeira A, Martins E, Magalhães M, Sequeira S, Vieira JP, Santos H, Vilarinho S, Vilarinho L. Nogueira C, et al. Among authors: vilarinho s, vilarinho l. Mitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006. Epub 2019 Mar 1. Mitochondrion. 2019. PMID: 30831263
Neonatal cholestasis: an uncommon presentation of hyperargininemia.
Gomes Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L. Gomes Martins E, et al. Among authors: vilarinho s, vilarinho l. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S503-6. doi: 10.1007/s10545-010-9263-7. Epub 2011 Jan 13. J Inherit Metab Dis. 2010. PMID: 21229317
Exome Sequencing in Clinical Hepatology.
Vilarinho S, Mistry PK. Vilarinho S, et al. Hepatology. 2019 Dec;70(6):2185-2192. doi: 10.1002/hep.30826. Hepatology. 2019. PMID: 31222768 Free PMC article. Review.
Clinical utility of genomic analysis in adults with idiopathic liver disease.
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Hakim A, et al. Among authors: vilarinho s. J Hepatol. 2019 Jun;70(6):1214-1221. doi: 10.1016/j.jhep.2019.01.036. Epub 2019 Apr 15. J Hepatol. 2019. PMID: 31000363 Free PMC article.
A single cell gene expression atlas of 28 human livers.
Brancale J, Vilarinho S. Brancale J, et al. Among authors: vilarinho s. J Hepatol. 2021 Jul;75(1):219-220. doi: 10.1016/j.jhep.2021.03.005. Epub 2021 May 18. J Hepatol. 2021. PMID: 34016468 Free PMC article.
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. Among authors: vilarinho s. EBioMedicine. 2023 Sep;95:104747. doi: 10.1016/j.ebiom.2023.104747. Epub 2023 Aug 9. EBioMedicine. 2023. PMID: 37566928 Free PMC article.
57 results