Silvia Vilarinho, MD, PhD

• Ajay Malhotra
• Alison Galvani
• Allen Bale
• David N. Assis
• David Rimm
• Dhanpat Jain
• Dinesh Pashankar
• Jeffrey Townsend
• Murat Gunel
• Pramod Mistry
• Sanjay Kulkarni
• Tamar Taddei
• Uma Phatak
• Xuchen Zhang
• Zeynep Erson Omay

Consanguinity; Genotype; Liver; Liver Diseases; Phenotype; Genetic Variation

• Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB DeficiencyKorol C, Belkaya S, Alsohime F, Lorenzo L, Boisson-Dupuis S, Brancale J, Neehus A, Vilarinho S, Zobaida A, Halwani R, Al-Muhsen S, Casanova J, Jouanguy E. Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency. Journal Of Clinical Immunology 2022, 43: 406-420. PMID: 36308662, PMCID: PMC9892130, DOI: 10.1007/s10875-022-01376-5.
• Exome Sequencing in Clinical HepatologyVilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.
• Reply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges”Hakim A, Mistry PK, Vilarinho S. Reply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges”. Journal Of Hepatology 2019, 71: 850-851. PMID: 31378425, DOI: 10.1016/j.jhep.2019.07.005.
• Clinical utility of genomic analysis in adults with idiopathic liver diseaseHakim 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. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.
• Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase CholestasisAksu A, Das SK, Nelson‐Williams C, Jain D, Hoşnut F, Şahin G, Lifton RP, Vilarinho S. Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis. Hepatology Communications 2019, 3: 471-477. PMID: 30976738, PMCID: PMC6442693, DOI: 10.1002/hep4.1320.
• MitoMatters Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunctionNogueira 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. MitoMatters Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction. Mitochondrion 2019, 47: 309-317. PMID: 30831263, DOI: 10.1016/j.mito.2019.02.006.
• Great Expectations: Principal Investigator and Trainee Perspectives on Hiring, Supervision, and MentoringKaps L, Stine JG, Mellinger J, Vilarinho S. Great Expectations: Principal Investigator and Trainee Perspectives on Hiring, Supervision, and Mentoring. Hepatology Communications 2018, 2: 999-1004. PMID: 30248677, PMCID: PMC6128226, DOI: 10.1002/hep4.1205.
• Prototheca zopfii Colitis in Inherited CARD9 Deficiency.Sari S, Dalgic B, Muehlenbachs A, DeLeon-Carnes M, Goldsmith CS, Ekinci O, Jain D, Keating MK, Vilarinho S. Prototheca zopfii Colitis in Inherited CARD9 Deficiency. The Journal Of Infectious Diseases 2018, 218: 485-489. PMID: 29659908, PMCID: PMC6049027, DOI: 10.1093/infdis/jiy198.
• Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain disseminationVilarinho S, Erson-Omay E, Mitchell-Richards K, Cha C, Nelson-Williams C, Harmancı AS, Yasuno K, Günel M, Taddei TH. Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination. Journal Of Hepatology 2017, 67: 186-191. PMID: 28323122, PMCID: PMC5497691, DOI: 10.1016/j.jhep.2017.03.009.
• ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairmentVilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 113: 11289-11293. PMID: 27647924, PMCID: PMC5056113, DOI: 10.1073/pnas.1613228113.
• Pioneering a Global Cure for Chronic Hepatitis C Virus InfectionVilarinho S, Lifton RP. Pioneering a Global Cure for Chronic Hepatitis C Virus Infection. Cell 2016, 167: 12-15. PMID: 27634325, DOI: 10.1016/j.cell.2016.08.038.
• Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertensionVilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 2016, 63: 1977-1986. PMID: 26874653, PMCID: PMC4874872, DOI: 10.1002/hep.28499.
• The Impact of Enhanced Screening and Treatment on Hepatitis C in the United StatesDurham DP, Skrip LA, Bruce RD, Vilarinho S, Elbasha EH, Galvani AP, Townsend JP. The Impact of Enhanced Screening and Treatment on Hepatitis C in the United States. Clinical Infectious Diseases 2015, 62: 298-304. PMID: 26628566, PMCID: PMC4706637, DOI: 10.1093/cid/civ894.
• The Role of ARF6 in Biliary AtresiaNingappa M, So J, Glessner J, Ashokkumar C, Ranganathan S, Min J, Higgs BW, Sun Q, Haberman K, Schmitt L, Vilarinho S, Mistry PK, Vockley G, Dhawan A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R. The Role of ARF6 in Biliary Atresia. PLOS ONE 2015, 10: e0138381. PMID: 26379158, PMCID: PMC4574480, DOI: 10.1371/journal.pone.0138381.
• Therapeutic Strategies for Hepatocellular Carcinoma: New Advances and ChallengesVilarinho S, Taddei T. Therapeutic Strategies for Hepatocellular Carcinoma: New Advances and Challenges. Current Treatment Options In Gastroenterology 2015, 13: 219-234. PMID: 25791207, DOI: 10.1007/s11938-015-0049-8.
• New advances in precision medicine for hepatocellular carcinoma recurrence prediction and treatmentVilarinho S, Calvisi DF. New advances in precision medicine for hepatocellular carcinoma recurrence prediction and treatment. Hepatology 2014, 60: 1812-1814. PMID: 25042754, DOI: 10.1002/hep.27311.
• Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutationsVilarinho S, Erson-Omay EZ, Harmanci AS, Morotti R, Carrion-Grant G, Baranoski J, Knisely AS, Ekong U, Emre S, Yasuno K, Bilguvar K, Günel M. Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations. Journal Of Hepatology 2014, 61: 1178-1183. PMID: 25016225, DOI: 10.1016/j.jhep.2014.07.003.
• Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiologyVilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.
• Su1894 Exome Sequencing of Formalin Fixed Paraffin Embedded Pancreatic Ductal Adenocarcinoma Samples Expands Mutational Landscape and Identifies Hypermutator PhenotypeVilarinho S, Overton J, Carvajal D, Rimm D, Lifton R. Su1894 Exome Sequencing of Formalin Fixed Paraffin Embedded Pancreatic Ductal Adenocarcinoma Samples Expands Mutational Landscape and Identifies Hypermutator Phenotype. Gastroenterology 2014, 146: s-495. DOI: 10.1016/s0016-5085(14)61783-2.
• New frontier in liver cancer treatment: Oncolytic viral therapyVilarinho S, Taddei TH. New frontier in liver cancer treatment: Oncolytic viral therapy. Hepatology 2013, 59: 343-346. PMID: 23836532, PMCID: PMC4427510, DOI: 10.1002/hep.26605.
• Liver Transplantation: From Inception to Clinical PracticeVilarinho S, Lifton RP. Liver Transplantation: From Inception to Clinical Practice. Cell 2012, 150: 1096-1099. PMID: 22980971, DOI: 10.1016/j.cell.2012.08.030.
• IL-21 is pivotal in determining age-dependent effectiveness of immune responses in a mouse model of human hepatitis BPublicover J, Goodsell A, Nishimura S, Vilarinho S, Wang ZE, Avanesyan L, Spolski R, Leonard WJ, Cooper S, Baron JL. IL-21 is pivotal in determining age-dependent effectiveness of immune responses in a mouse model of human hepatitis B. Journal Of Clinical Investigation 2011, 121: 1154-1162. PMID: 21393863, PMCID: PMC3049376, DOI: 10.1172/jci44198.
• Neonatal cholestasis: an uncommon presentation of hyperargininemiaMartins E, Silva E, Vilarinho S, Saudubray JM, Vilarinho L. Neonatal cholestasis: an uncommon presentation of hyperargininemia. Journal Of Inherited Metabolic Disease 2010, 33: 503-506. PMID: 21229317, DOI: 10.1007/s10545-010-9263-7.
• Blockade of NKG2D on NKT cells prevents hepatitis and the acute immune response to hepatitis B virusVilarinho S, Ogasawara K, Nishimura S, Lanier LL, Baron JL. Blockade of NKG2D on NKT cells prevents hepatitis and the acute immune response to hepatitis B virus. Proceedings Of The National Academy Of Sciences Of The United States Of America 2007, 104: 18187-18192. PMID: 17991774, PMCID: PMC2084318, DOI: 10.1073/pnas.0708968104.