Silvia Vilarinho, MD, PhD
Biography
Silvia Vilarinho, MD, is an internist who treats digestive and liver diseases. She is especially interested in integrating genetics into diagnosis and treatment. No matter how serious the ailment, she always seeks to reassure patients. “We will work together to find the best plan,” she tells them.
One of her most meaningful experiences was identifying a rare genetic disorder in a woman who had been misdiagnosed multiple times. After years of ineffective treatment, including multiple surgeries, Dr. Vilarinho was finally able to provide the patient with the proper diagnosis and therapy.
An assistant professor of medicine (digestive diseases) at Yale School of Medicine, Dr. Vilarinho’s research applies genetics and genomics to determine the molecular basis of liver diseases with no clear cause. She is most excited when uncovering something that has never been seen before. “It is my goal to merge my research and clinical skills to advance science and to benefit the patient,” she says.
Titles
- Associate Professor of Medicine (Digestive Diseases) and of Pathology
- Associate Director, Yale MD-PhD Program
- Director, Internal Medicine Physician Scientist Training Program
Education & Training
- FellowshipYale University (2015)
- ResidencyYale University (2011)
- InternshipUniversity of Minnesota (2010)
- PhDUniversity of Porto, Portugal (2008)
- MDUniversity of Porto (2004)
Languages Spoken
- English
- Português (Portuguese)
Additional Information
- 2023 Leah Lowenstein Award: (2023)
- Young Physician-Scientist Award: American Society for Clinical Investigation (2022)
- Inaugural John N. Forrest, Jr. Prize for Mentorship in Student Research: (2021)
- Doris Duke Clinical Scientist Award: Doris Duke Charitable Foundation (2019)
- AASLD Sheila Sherlock Clinical and Translational Research Award: AASLD Foundation (2015)
- Samuel Kushlan Award for Excellence in Research during Digestive Diseases Fellowship: (2015)
- AB of Internal Medicine, Gastroenterology (2015, recertified: 2024)
- AB of Internal Medicine, Internal Medicine (2012, recertified: 2024)
- American Association for the Study of Liver Disease (AASLD) (2021 - Present): AASLD Research Awards Committee
- American Association for the Study of Liver Disease (AASLD) (2021 - Present): AASLD Basic Research Committee
- Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin A, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand S, Brancale J, Vilarinho S, Lundegaard P, Sørensen E, Erikstrup C, Bruun M, Jensen B, Brunak S, Banasik K, Ullum H, Verweij N, Lotta L, Baras A, Mirshahi T, Carey D, Kaplan D, Lynch J, Morgan T, Schwantes-An T, Dochtermann D, Pyarajan S, Tsao P, Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton K, Nadauld L, Ferkingstad E, Björnsson E, Ulfarsson M, Sturluson Á, Sulem P, Pedersen O, Ostrowski S, Gudbjartsson D, Stefansson K, Olesen M, Chang K, Holm H, Bundgaard H, Stender S. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis. Nature Genetics 2024, 56: 827-837. PMID: 38632349, PMCID: PMC11096111, DOI: 10.1038/s41588-024-01720-y.
- Konkwo C, Chowdhury S, Vilarinho S. Genetics of liver disease in adults. Hepatology Communications 2024, 8: e0408. PMID: 38551385, PMCID: PMC10984672, DOI: 10.1097/hc9.0000000000000408.
- Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathwayPark A, Leney-Greene M, Lynberg M, Gabrielski J, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews H, Cui J, Yao Y, Kubo S, Chanchu J, Morawski A, Cook S, Jiang P, Ravell J, Cheng Y, George A, Faruqi A, Pagalilauan A, Bergerson J, Ganesan S, Chauvin S, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher G, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia R, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson T, Cochet C, Filhol O, Bosio C, Davis M, Lifton R, Pearce E, Daumke O, Aytekin C, Şahin G, Aksu A, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su H, Lenardo M. Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway. Nature Immunology 2024, 25: 717-717. PMID: 38347083, DOI: 10.1038/s41590-024-01779-z.
- Park A, Leney-Greene M, Lynberg M, Gabrielski J, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews H, Cui J, Yao Y, Kubo S, Chanchu J, Morawski A, Cook S, Jiang P, Ravell J, Cheng Y, George A, Faruqi A, Pagalilauan A, Bergerson J, Ganesan S, Chauvin S, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher G, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia R, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson T, Cochet C, Filhol O, Bosio C, Davis M, Lifton R, Pearce E, Daumke O, Aytekin C, Şahin G, Aksu A, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su H, Lenardo M. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway. Nature Immunology 2024, 25: 282-293. PMID: 38172257, PMCID: PMC11151279, DOI: 10.1038/s41590-023-01691-y.
- Korol 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.
- Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.
- 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.
- 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. 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.
- Aksu 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.
- 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. 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.
- Kaps 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.
- 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Durham 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.
- Ningappa 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Publicover 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.
- Martins 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.
Biography
Silvia Vilarinho, MD, is an internist who treats digestive and liver diseases. She is especially interested in integrating genetics into diagnosis and treatment. No matter how serious the ailment, she always seeks to reassure patients. “We will work together to find the best plan,” she tells them.
One of her most meaningful experiences was identifying a rare genetic disorder in a woman who had been misdiagnosed multiple times. After years of ineffective treatment, including multiple surgeries, Dr. Vilarinho was finally able to provide the patient with the proper diagnosis and therapy.
An assistant professor of medicine (digestive diseases) at Yale School of Medicine, Dr. Vilarinho’s research applies genetics and genomics to determine the molecular basis of liver diseases with no clear cause. She is most excited when uncovering something that has never been seen before. “It is my goal to merge my research and clinical skills to advance science and to benefit the patient,” she says.
Titles
- Associate Professor of Medicine (Digestive Diseases) and of Pathology
- Associate Director, Yale MD-PhD Program
- Director, Internal Medicine Physician Scientist Training Program
Education & Training
- FellowshipYale University (2015)
- ResidencyYale University (2011)
- InternshipUniversity of Minnesota (2010)
- PhDUniversity of Porto, Portugal (2008)
- MDUniversity of Porto (2004)
Languages Spoken
- English
- Português (Portuguese)
Additional Information
- 2023 Leah Lowenstein Award: (2023)
- Young Physician-Scientist Award: American Society for Clinical Investigation (2022)
- Inaugural John N. Forrest, Jr. Prize for Mentorship in Student Research: (2021)
- Doris Duke Clinical Scientist Award: Doris Duke Charitable Foundation (2019)
- AASLD Sheila Sherlock Clinical and Translational Research Award: AASLD Foundation (2015)
- Samuel Kushlan Award for Excellence in Research during Digestive Diseases Fellowship: (2015)
- AB of Internal Medicine, Gastroenterology (2015, recertified: 2024)
- AB of Internal Medicine, Internal Medicine (2012, recertified: 2024)
- American Association for the Study of Liver Disease (AASLD) (2021 - Present): AASLD Research Awards Committee
- American Association for the Study of Liver Disease (AASLD) (2021 - Present): AASLD Basic Research Committee
- Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin A, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand S, Brancale J, Vilarinho S, Lundegaard P, Sørensen E, Erikstrup C, Bruun M, Jensen B, Brunak S, Banasik K, Ullum H, Verweij N, Lotta L, Baras A, Mirshahi T, Carey D, Kaplan D, Lynch J, Morgan T, Schwantes-An T, Dochtermann D, Pyarajan S, Tsao P, Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton K, Nadauld L, Ferkingstad E, Björnsson E, Ulfarsson M, Sturluson Á, Sulem P, Pedersen O, Ostrowski S, Gudbjartsson D, Stefansson K, Olesen M, Chang K, Holm H, Bundgaard H, Stender S. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis. Nature Genetics 2024, 56: 827-837. PMID: 38632349, PMCID: PMC11096111, DOI: 10.1038/s41588-024-01720-y.
- Konkwo C, Chowdhury S, Vilarinho S. Genetics of liver disease in adults. Hepatology Communications 2024, 8: e0408. PMID: 38551385, PMCID: PMC10984672, DOI: 10.1097/hc9.0000000000000408.
- Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathwayPark A, Leney-Greene M, Lynberg M, Gabrielski J, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews H, Cui J, Yao Y, Kubo S, Chanchu J, Morawski A, Cook S, Jiang P, Ravell J, Cheng Y, George A, Faruqi A, Pagalilauan A, Bergerson J, Ganesan S, Chauvin S, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher G, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia R, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson T, Cochet C, Filhol O, Bosio C, Davis M, Lifton R, Pearce E, Daumke O, Aytekin C, Şahin G, Aksu A, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su H, Lenardo M. Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway. Nature Immunology 2024, 25: 717-717. PMID: 38347083, DOI: 10.1038/s41590-024-01779-z.
- Park A, Leney-Greene M, Lynberg M, Gabrielski J, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews H, Cui J, Yao Y, Kubo S, Chanchu J, Morawski A, Cook S, Jiang P, Ravell J, Cheng Y, George A, Faruqi A, Pagalilauan A, Bergerson J, Ganesan S, Chauvin S, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher G, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia R, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson T, Cochet C, Filhol O, Bosio C, Davis M, Lifton R, Pearce E, Daumke O, Aytekin C, Şahin G, Aksu A, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su H, Lenardo M. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway. Nature Immunology 2024, 25: 282-293. PMID: 38172257, PMCID: PMC11151279, DOI: 10.1038/s41590-023-01691-y.
- Korol 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.
- Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.
- 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.
- 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. 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.
- Aksu 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.
- 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. 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.
- Kaps 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.
- 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Durham 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.
- Ningappa 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
- Vilarinho 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.
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