2024

  • Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin AS, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand SA, Brancale J, Vilarinho S, Lundegaard PR, Sørensen E, Erikstrup C, Bruun MT, Jensen BA, Brunak S, Banasik K, Ullum H; DBDS Genomic Consortium; Verweij N, Lotta L, Baras A; Regeneron Genetics Center; Mirshahi T, Carey DJ; Geisinger-Regeneron DiscovEHR Collaboration; VA Million Veteran Program; Kaplan DE, Lynch J, Morgan T, Schwantes-An TH, Dochtermann DR, Pyarajan S, Tsao PS; Estonian Biobank Research Team; Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton KU, Nadauld L, Ferkingstad E, Björnsson ES, Ulfarsson MO, Sturluson Á, Sulem P, Pedersen OB, Ostrowski SR, Gudbjartsson DF, Stefansson K, Olesen MS, Chang KM, Holm H, Bundgaard H, Stender S. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis. Nature Genetics 2024 May;56(5):827-837. PMID: 38632349

  • Konkwo C, Chowdhury S, Vilarinho S. Genetics of liver disease in adults. Hepatology Communications 2024 Mar 29; 8(4):e0408.PMID: 38551385

  • Park AY, Leney-Greene M, Lynberg M, Gabrielski JQ, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews HF, Cui J, Yao Y, Kubo S, Chanchu JM, Morawski AR, Cook SA, Jiang P, Ravell JC, Cheng YH, George A, Faruqi A, Pagalilauan AM, Bergerson JRE, Ganesan S, Chauvin SD, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher GW, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia RJ, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson TP, Cochet C, Filhol O, Bosio CM, Davis MM, Lifton RP, Pearce EL, Daumke O, Aytekin C, Şahin GE, Aksu AÜ, 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 HC, Lenardo MJ. GIMAP5 deficiency reveals a mammalian ceramide-drive longevity assurance pathway. Nature Immunology 2024 Feb;25(2):282-293. PMID:38172257

2023

  • 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*. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023 Aug 9;95:104747. PMID:37566928

  • Chowdhury S, Fried KD, Iwakiri Y, Brancale J, Vilarinho S*. Protocol for enrichment, purification, and cytocentrifugation of mouse liver endothelial cells. STAR Protocols 2023 Jul 28;4(3):102480. PMID: 37515764

  • Chung DH, Zheng M, Bale AE, Vilarinho S*. Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data in clinical practice. Journal of Hepatology 2023 Oct;79(4):1065-1071. PMID:37011712

  • Zheng M, Huang DQ, Konkwo C, Agrawal S, Khera AV, Loomba R*, Vilarinho S*, Ajmera V*. Genomic analysis in lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study. J Hepatol Reports 2023 Feb 2;5(4):100692.

  • Korol CB, Belkaya S, Alsohime F, Lorenzo L, Boisson-Dupuis D, Brancale J, Neehus AL, Vilarinho S, Zobaida A, Halwani R, Al-Muhsen S, Casanova JL, Jouanguy E. Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency. J Clin Immunol 2023 Feb;43(2):406-420.

2022

  • Vujkovic M, Ramdas S, Lorenz KM, Guo X, Darlay R, Cordell HJ, He J, Gindin Y, Chung C, Myers RP, Schneider CV, Park J, Lee KM, Serper M, Carr RM, Kaplan DE, Haas ME, MacLean MT, Witschey WR, Zhu X, Tcheandjieu C, Kember RL, Kranzler HR, Verma A, Giri A, Klarin DM, Sun YV, Huang J, Huffman JE, Townsend Creasy K, Hand NJ, Liu CT, Long MT, Yao J, Budoff M, Tan J, Li X, Lin HJ, Chen YI, Taylor KD, Chang RK, Krauss RM, Vilarinho S, Brancale J, Nielsen JB, Locke AE, Jones MB, Verweij N, Baras A, Reddy KR, Neuschwander-Tetri BA, Schwimmer JB, Sanyal AJ, Chalasani N, Ryan KA, Mitchell BD, Gill D, Wells AD, Manduchi E, Saiman Y, Mahmud N, Miller DR, Reaven PD, Phillips LS, Muralidhar S, DuVall SL, Lee JS, Assimes TL, Pyarajan S, Cho K, Edwards TL, Damrauer SM, Wilson PW, Gaziano JM, O'Donnell CJ, Khera AV, Grant SFA, Brown CD, Tsao PS, Saleheen D, Lotta LA, Bastarache L, Anstee QM, Daly AK, Meigs JB, Rotter JI, Lynch JA; Regeneron Genetics Center; Geisinger-Regeneron DiscovEHR Collaboration; EPoS Consortium; VA Million Veteran Program, Rader DJ, Voight BF, Chang KM. A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation. Nat Genet. 2022 Jun;54(6):761-771. PMID: 35654975

  • Zheng M, Allington G, Vilarinho S*. Genomic medicine for liver disease. Hepatology 2022 Sept;76(3):860-868. PMID:35076957

2021

  • Hakim A, Moll M, Qiao D, Liu J, Lasky-Su JA, Silverman EK, Vilarinho S, Jian ZG, Hobbs BD, Cho MH. Heterozygosity of the Alpha 1-Antitrypsin Pi*Z Allele and Risk of Liver Disease. Hepatol Commun. 2021 April;5(8):1348-1361.

  • Vilarinho S*, Ajmera V, Zheng M, Loomba R*. Emerging Role of Genomic Analysis in Clinical Evaluation of Lean Individuals with NAFLD. Hepatology 2021 Oct;74(4):2241-2250.

  • Hakim A, Moll M, Brancale J, Liu J, Lasky-Su JA, Silverman EK, Vilarinho S, Jiang ZG, Pita-Juárez YH, Vlachos IS, Zhang X, Aberg F, Afdhal NH, Hobbs BD, Cho MH. Genetic Variation in the Mitochondrial Glycerol-3-Phosphate Acyltransferase is Associated With Liver Injury. Hepatology 2021 Dec;74(6):3394-3408.

  • Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Ali FA, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spann AN, Romain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y, Yaguchi T, Chamoto K, Williams SC, Emile JF, Rozenberg F, Glickman MS, Rapaport F, Kerner G, Allington G, Tezcan I, Cagdas D, Honst FO, Dogu F, Ikinciogullari A, Rao VK, Kainulainen L, Béziat V, Bustamante J, Vilarinho S, Lifton RP, Boisson B, Abel L, Bogunovic D, Marr N, Notarangelo LD, Tangye SG, Honjo T, Gros P, Boisson-Dupuis S, Casanova JL. Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child. Nat. Med. 2021 Sep;27(9):1646-1654.

  • Brancale J, Vilarinho S*. A single cell gene expression atlas of 28 human livers. J Hepatol 2021 Jul;75(1);219-220.

  • Drzewiecki K, Choi J, Brancale J, Leney-Greene MA, Sari S, Dalgiç B, Ünlüsoy Aksu A, Evirgen Sahin G, Ozen A, Karakoc-Aydiner E, Jain D, Keiner D, Schmalz M, Radhakrishnan K, Zhang J, Hoebe K, Su HC, Pereira JP, Lenardo MJ, Lifton RP, Vilarinho S*. GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. J Exp Med. 2021 Jul 5;218(7):e20201745.

  • Gao E, Hercun J, Heller T*, Vilarinho S*. Undiagnosed liver diseases. Transl Gastroenterol Hepatol 2021;6:28.

  • Yutuc E, Dickson AL, Pacciarini M, Griffiths L, Baker PRS, Connell L, Öhman A, Forsgren L, Trupp M, Vilarinho S, Khalil Y, Clayton PT, Sari S, Dalgiç B, Höflinger P, Schöls L, Griffiths WJ, Wang Y. Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry. Analytica Chimica Acta April 2021;1154:338259.

    2020

  • Gao E, Cheema H, Waheed N, Mushtaq I, Erden N, Nelson-Williams C, Jain D, Soroka CJ, Boyer JL, Khalil Y, Clayton PT, Mistry PK, Lifton RP, Vilarinho S*. Organic Solute Transporter Alpha Deficiency: A Disorder with Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology 2020 May;71(5):1879-1882.

2019

  • Hakim A, Mistry PK, Vilarinho S*. Reply to: “Whole-exome sequencing for personalized hepatology: Expanding applications in adults and challenges”. Journal of Hepatology 2019 Oct:71(4):850-851.

  • Vilarinho S*, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019 Dec;70(6):2185-2192.

  • 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 Jun;70(6):1214-1221.

  • Ünlüsoy Aksu A, Das SK, Nelson-Williams C, Jain D, Özbay Hosnut F, Evirgen Sahin G, Lifton RP, Vilarinho S. Recessive Mutations in KIF12 Cause High Gamma-Glutamyltransferase Cholestasis. Hepatology Communications 2019 Feb 13;3(4):471-477.

  • 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. Mitochondrion 2019 Jul;47:309-317.

    2018

  • Kaps L, Stine JG, Mellinger J, Vilarinho S. Great Expectations: Principal Investigator and Trainee Perspectives on Hiring, Supervising, and Mentoring. Hepatology Communications 2018 Sep 7;2(9):999-1004.

  • Sari S, Dalgiç B, Muehlenbachs A, DeLeon-Carnes M, Goldsmith CS, Ekinci O, Jain D, Keating MK, Vilarinho S*. Prototheca zopfii Colitis in Inherited CARD9 Deficiency. Journal of Infectious Diseases 2018 Jul;67(1):186-191.

    2017

  • Vilarinho S*, Erson-Omay EZ, Mitchell-Richards K, Cha C, Nelson-Williams C, Harmanci 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 Jul;67(1):186-191.

    2016

  • 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. PNAS 2016 Oct 4;113(40):11289-11293.

  • Vilarinho S, Lifton RP. Pioneering a Global Cure for Chronic Hepatitis C Virus Infection. Cell 2016 Sep 22;167(1):12-15.

  • Vilarinho S*, Sari S, Yilmaz, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgiç B, Günel M, Lifton RP*. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic non-cirrhotic portal hypertension. Hepatology 2016 Jun;63(6):1977-86.

  • Durham DP, Strip 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 2016 Feb 1;62(3):298-304.

    2015

  • 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, Drawn A, Gittes GK, Hakonarson H, Jaffe R, Subramaniam S, Shin D, Sindhi R. The Role of ARF6 in Biliary Atresia. Plos One 2015 Sep 17;10(9):e0138381.

  • Vilarinho S, Taddei T. Therapeutic strategies for hepatocellular carcinoma: new advances and challenges. Current Treatment Options Gastroenterology 2015 Jun;13(2):219-34.

    2014

  • Vilarinho S, Calvisi DF. New advances in precision medicine for heptocellular carcinoma recurrence prediction and treatment. Hepatology 2014 Dec;60(6):1812-4.

  • Vilarinho S, Erson-Omay EZ, Harmanci AS, Morotti R, Carrion-Grant G, Baranoski J, Knisely AS, Ekong U, Emre S, Yasuno 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 Nov;61(5):1178-83.

  • 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 Nov;61(5):1056-63.

  • Vilarinho S, Taddei TH. New frontier in liver cancer treatment: oncolytic viral therapy. Hepatology 2014 Jan;59(1):343-6.

    2012 and earlier

  • Vilarinho S, Lifton RP. Liver transplantation: from inception to clinical practice. Cell 2012 Sep 14;150(6):1096-9.

  • Publicover J, Goodwill 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 Mar;121(3):1154-62.

  • Gomes Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L. Neonatal Cholestasis: an uncommon presentation of hyperargininemia. Journal of Inherited Metabolic Diseases 2010 Dec;33 Suppl 3:S503-6.

  • Vilarinho 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. PNAS 2007 Nov 13;104(46):18187-92.

Lab members are highlighted in bold
*corresponding author