Silvia Vilarinho, MD, PhD
Associate Professor AdjunctDownloadHi-Res Photo
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Additional Titles
Associate Director, Yale MD-PhD Program
Director, Internal Medicine Physician Scientist Training Program
Contact Info
Yale School of Medicine
Department of Medicine (Digestive Diseases), P.O. Box 208019
New Haven, CT 06520-8019
United States
About
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Titles
Associate Professor Adjunct
Associate Director, Yale MD-PhD Program; Director, Internal Medicine Physician Scientist Training Program
Biography
Silvia Vilarinho is a physician-scientist who uses genetics, genomics and human samples to investigate the molecular basis of various liver diseases of unknown etiology. Using these approaches, we have identified five novel genetic liver diseases. Our research goal is to continue to discover new genes important in liver function both in health and disease and to use cell biology and animal models to determine the specific mechanism(s) linking mutant gene to disease as a roadmap to further understand and treat rare and common liver diseases.
This research approach provides new knowledge with direct impact in improving patient care and creates an outstanding scientific environment to train future physician-scientists and trainees with particular interest in human disease. Furthermore, I am very committed to make ‘genomic medicine for liver disease’ a reality in clinical practice worldwide.
Last Updated on July 04, 2023.
Appointments
Pathology
Associate Professor on TermSecondary
Other Departments & Organizations
- ABIM Physician-Scientist Research Pathway
- Internal Medicine
- Janeway Society
- Liver Center
- MD-PhD Program
- Molecular Medicine, Pharmacology, and Physiology
- Pathology
- Pathology Research
- Vilarinho Lab
- Yale Center for Genomic Health
- Yale Combined Program in the Biological and Biomedical Sciences (BBS)
- Yale New Haven Health System
Education & Training
- Fellowship
- Yale University (2015)
- Residency
- Yale University (2011)
- Internship
- University of Minnesota (2010)
- PhD
- University of Porto, Portugal (2008)
- MD
- University of Porto (2004)
Research
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Overview
Medical Research Interests
Consanguinity; Genetic Variation; Genotype; Liver; Liver Diseases; Phenotype
ORCID
0000-0002-2099-4212- View Lab Website
Vilarinho Lab
Research at a Glance
Yale Co-Authors
Frequent collaborators of Silvia Vilarinho's published research.
Publications Timeline
A big-picture view of Silvia Vilarinho's research output by year.
Research Interests
Research topics Silvia Vilarinho is interested in exploring.
Dhanpat Jain, MD, MBBS
Pramod Mistry, MBBS, PhD, MA, MD
Joseph Brancale, MD, PhD
Allen Bale, MD
Murat Günel, MD, FACS, FAHA, FAANS
Tamar Taddei, MD
39Publications
1,135Citations
Liver Diseases
Liver
Phenotype
Genetic Variation
Consanguinity
Genotype
Publications
2026
Genetic Testing in Liver Diseases: Clinical Applications
Keitel V, Mentzinger A, Dröge C, Vilarinho S. Genetic Testing in Liver Diseases: Clinical Applications. JHEP Reports 2026, 101902. PMID: 42214790, DOI: 10.1016/j.jhepr.2026.101902.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsAltmetricDynamic remodeling of portal vessels by Clec4g+ endothelial cells in liver growth and homeostasis
Platt S, Mohammed N, Brancale J, Tippett C, Seo K, Vilarinho S. Dynamic remodeling of portal vessels by Clec4g+ endothelial cells in liver growth and homeostasis. JCI Insight 2026, 11: e201391. PMID: 42154527, PMCID: PMC13313477, DOI: 10.1172/jci.insight.201391.Peer-Reviewed Original ResearchAltmetric
2025
Challenges in the diagnosis and treatment of genetic cholestasis in adults
Thompson R, Vilarinho S, Miquel R, Keitel V. Challenges in the diagnosis and treatment of genetic cholestasis in adults. JHEP Reports 2025, 8: 101625. PMID: 41674895, PMCID: PMC12890451, DOI: 10.1016/j.jhepr.2025.101625.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCitationsIdiopathic cholestasis in adults: Genetics as another lens for liver pathologists
Tamburro C, Mentzinger A, Jain D, Vilarinho S. Idiopathic cholestasis in adults: Genetics as another lens for liver pathologists. Human Pathology 2025, 165: 105916. PMID: 40854348, DOI: 10.1016/j.humpath.2025.105916.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCitationsAltmetricInsulin resistance, metabolic dysfunction–associated steatotic liver disease, and advanced liver fibrosis in lean US adults: a population-based study
Njei B, Abdu M, Al-Ajlouni Y, Mohamed M, Deng Y, Osta E, Kanmounye U, Vilarinho S, Dranoff J, Lim J, Md, Echouffo Tcheugui J. Insulin resistance, metabolic dysfunction–associated steatotic liver disease, and advanced liver fibrosis in lean US adults: a population-based study. Baylor University Medical Center Proceedings 2025, 38: 637-645. PMID: 40821486, PMCID: PMC12351751, DOI: 10.1080/08998280.2025.2524199.Peer-Reviewed Original ResearchCitationsGenome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development
Ghouse J, Gellert-Kristensen H, O’Rourke C, Seidelin A, Thorleifsson G, Sveinbjörnsson G, Tragante V, Konkwo C, Brancale J, Vilarinho S, Eyrich T, Ahlberg G, Bundgaard J, Rand S, Lundegaard P, Sørensen E, Mikkelsen C, Træholt J, Erikstrup C, Dinh K, Bruun M, Jensen B, Bay J, Brunak S, Banasik K, Ullum H, Consortium E, Laisk T, Mägi R, Nadauld L, Knowlton K, Knight S, Gluud L, Vistisen K, Björnsson E, Ulfarsson M, Sulem P, Holm H, Pedersen O, Ostrowski S, Gudbjartsson D, Rafnar T, Stefansson K, Lassen U, Pommergaard H, Hillingsø J, Andersen J, Bundgaard H, Stender S. Genome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development. JHEP Reports 2025, 7: 101485. PMID: 40823170, PMCID: PMC12355075, DOI: 10.1016/j.jhepr.2025.101485.Peer-Reviewed Original ResearchCitationsAltmetricThe interplay between germline and somatic variants in alpha-1 anti-trypsin deficiency liver disease
Vilarinho S. The interplay between germline and somatic variants in alpha-1 anti-trypsin deficiency liver disease. Nature Genetics 2025, 57: 775-776. PMID: 40169790, DOI: 10.1038/s41588-025-02151-z.Peer-Reviewed Original ResearchCitationsAltmetricTargeting Polymeric Nanoparticles to Specific Cell Populations in the Liver
Harkins L, Vilarinho S, Saltzman W. Targeting Polymeric Nanoparticles to Specific Cell Populations in the Liver. Biochemistry 2025, 64: 1685-1697. PMID: 40127248, PMCID: PMC12543053, DOI: 10.1021/acs.biochem.4c00712.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCitations
2024
Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases.
Sümer Coşar Ö, Öztürk H, Sarı S, Vilarinho S, Kayhan G, Eğritaş Gürkan Ö, Dalgıç B. Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases. Experimental And Clinical Transplantation 2024, 22: 100-105. PMID: 39498929, DOI: 10.6002/ect.pedsymp2024.o29.Peer-Reviewed Original ResearchIntegrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
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.Peer-Reviewed Original ResearchCitationsAltmetricMeSH KeywordsAlanine TransaminaseCarcinoma, HepatocellularCase-Control StudiesCohort StudiesFemalegamma-GlutamyltransferaseGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansLipaseLiver CirrhosisLiver NeoplasmsMaleMembrane ProteinsMultifactorial InheritancePolymorphism, Single NucleotideRisk Factors
Academic Achievements & Community Involvement
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Activities
activity American Association for the Study of Liver Disease (AASLD)
2021 - PresentPeer Review Groups and Grant Study SectionsMemberDetailsAASLD Research Awards Committeeactivity American Association for the Study of Liver Disease (AASLD)
2021 - PresentPeer Review Groups and Grant Study SectionsMemberDetailsAASLD Basic Research Committee
Honors
honor 2023 Leah Lowenstein Award
05/22/2023Yale School of Medicine AwardDetailsUnited Stateshonor Young Physician-Scientist Award
02/11/2022National AwardAmerican Society for Clinical InvestigationDetailsUnited Stateshonor Inaugural John N. Forrest, Jr. Prize for Mentorship in Student Research
05/20/2021Yale School of Medicine AwardDetailsUnited Stateshonor Doris Duke Clinical Scientist Award
07/01/2019National AwardDoris Duke Charitable FoundationDetailsUnited Stateshonor AASLD Sheila Sherlock Clinical and Translational Research Award
07/01/2015National AwardAASLD FoundationDetailsUnited States
News & Links
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News
- March 21, 2025
Match Day 2025: Yale Internal Medicine Welcomes Incoming Residents
- March 15, 2024
Announcing the Incoming Residents in the Internal Medicine Traditional Residency Program!
- June 27, 2023
Drs. Silvia Vilarinho, Andrew Wang Named Physician Scientist Training Program Leadership
- May 30, 2023
Drs. Silvia Vilarinho and Stephen Wang Win Commencement Awards
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Contacts
Mailing Address
Yale School of Medicine
Department of Medicine (Digestive Diseases), P.O. Box 208019
New Haven, CT 06520-8019
United States