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Author Details

Sílvia Vilarinho
2007
39
18
PMIDPaper TitleJournal TitlePublished Year
37515764Protocol for enrichment, purification, and cytocentrifugation of mouse liver endothelial cells.2023
36308662Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.Journal of Clinical Immunology2023
37011712Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.2023
36937991Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study.2023
35076957Genomic medicine for liver disease.Hepatology2022
35654975A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.Nat Genet2022
34430780Heterozygosity of the Alpha 1-Antitrypsin Pi*Z Allele and Risk of Liver Disease.Hepatol Commun2021
34016468A single cell gene expression atlas of 28 human livers.Journal of Hepatology2021
34233030Emerging Role of Genomic Analysis in Clinical Evaluation of Lean Individuals With NAFLD.Hepatology2021
33956074GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension.J Exp Med2021
33736801Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry.Analytica Chimica Acta2021
34216018Genetic Variation in the Mitochondrial Glycerol-3-Phosphate Acyltransferase Is Associated With Liver Injury.Hepatology2021
33824932Undiagnosed liver diseases.Transl Gastroenterol Hepatol2021
34183838Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.Nat Med2021
31541558Oral and cranio-maxillofacial trauma in children and adolescents in an emergency setting at a Brazilian hospital.Dental Traumatology2020
31863603Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.Hepatology2020
30831263Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.Mitochondrion2019
30976738Recessive Mutations in <i>KIF12</i> Cause High Gamma-Glutamyltransferase Cholestasis.Hepatol Commun2019
31222768Exome Sequencing in Clinical Hepatology.Hepatology2019
31378425Reply to: "Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges".Journal of Hepatology2019
31000363Clinical utility of genomic analysis in adults with idiopathic liver disease.Journal of Hepatology2019
29659908Prototheca zopfii Colitis in Inherited CARD9 Deficiency.Journal of Infectious Diseases2018
30248677Great Expectations: Principal Investigator and Trainee Perspectives on Hiring, Supervision, and Mentoring.Hepatology Communications2018
28323122Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination.J Hepatol2017
27634325Pioneering a Global Cure for Chronic Hepatitis C Virus Infection.Cell2016
26874653Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.Hepatology2016
26628566The Impact of Enhanced Screening and Treatment on Hepatitis C in the United States.Clinical Infectious Diseases2016
27647924ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.Proc Natl Acad Sci U S A2016
26379158The Role of ARF6 in Biliary Atresia.PLoS One2015
25791207Therapeutic strategies for hepatocellular carcinoma: new advances and challenges.Current Treatment Options in Gastroenterology2015
25016221Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.J Hepatol2014
23836532New frontier in liver cancer treatment: oncolytic viral therapy.Hepatology2014
25042754New advances in precision medicine for hepatocellular carcinoma recurrence prediction and treatment.Hepatology2014
25016225Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations.J Hepatol2014
22980971Liver transplantation: from inception to clinical practice.Cell2012
22387651Paralysis caused by a large carbohydrate meal.Journal of Postgraduate Medicine2012
21393863IL-21 is pivotal in determining age-dependent effectiveness of immune responses in a mouse model of human hepatitis B.J Clin Invest2011
21229317Neonatal cholestasis: an uncommon presentation of hyperargininemia.Journal of Inherited Metabolic Disease2010
17991774Blockade of NKG2D on NKT cells prevents hepatitis and the acute immune response to hepatitis B virus.Proc Natl Acad Sci U S A2007
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