Publications

A selection of recent and significant publications can be viewed below.

Select Publications

Nodular regenerative hyperplasia: not all nodules are created equal.

Reshamwala PA, Kleiner DE, Heller T.

Hepatology (2006 Jul) 44:7-14. Abstract/Full Text

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T.

Gastroenterology (2013 Jan) 144:112-121.e2. Abstract/Full Text

Longitudinal multi-omics analyses of the gut-liver axis reveals metabolic dysregulation in hepatitis C infection and cirrhosis.

Ali RO, Quinn GM, Umarova R, Haddad JA, Zhang GY, Townsend EC, Scheuing L, Hill KL, Gewirtz M, Rampertaap S, Rosenzweig SD, Remaley AT, Han JM, Periwal V, Cai H, Walter PJ, Koh C, Levy EB, Kleiner DE, Etzion O, Heller T.

Nat Microbiol (2023 Jan) 8:12-27. Abstract/Full Text

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity.

Sharma D, Ben Yakov G, Kapuria D, Viana Rodriguez G, Gewirtz M, Haddad J, Kleiner DE, Koh C, Bergerson JRE, Freeman AF, Heller T.

Hepatology (2022 Dec) 76:1845-1861. Abstract/Full Text

Oral prenylation inhibition with lonafarnib in chronic hepatitis D infection: a proof-of-concept randomised, double-blind, placebo-controlled phase 2A trial.

Koh C, Canini L, Dahari H, Zhao X, Uprichard SL, Haynes-Williams V, Winters MA, Subramanya G, Cooper SL, Pinto P, Wolff EF, Bishop R, Ai Thanda Han M, Cotler SJ, Kleiner DE, Keskin O, Idilman R, Yurdaydin C, Glenn JS, Heller T.

Lancet Infect Dis (2015 Oct) 15:1167-1174. Abstract/Full Text

Additional Publications

Rheological determinants for simultaneous staging of hepatic fibrosis and inflammation in patients with chronic liver disease.

Sinkus R, Lambert S, Abd-Elmoniem KZ, Morse C, Heller T, Guenthner C, Ghanem AM, Holm S, Gharib AM.

NMR Biomed (2018 Oct) 31:e3956. Abstract/Full Text

Liver disturbances in activated phosphoinositide 3-kinase δ syndrome.

Ben-Yakov G, Kapuria D, Marko J, Cho MH, Pittaluga S, Kleiner DE, Koh C, Holland S, Uzel G, Heller T.

J Allergy Clin Immunol Pract (2018 Sep-Oct) 6:1763-1765. Abstract/Full Text

Starry Night on Liver MRI: An Unexpected Incidental Finding in a Healthy Recruit.

Ben-Yakov G, Kapuria D, Heller T.

Gastroenterology (2018 Sep) 155:621-622. Abstract/Full Text

"Dwarfing" White Strands on Screening Colonoscopy!

Chitsaz E, Rotcheewaphan S, Koh C, Heller T.

Gastroenterology (2018 Sep) 155:e22-e23. Abstract/Full Text

Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension.

Etzion O, Takyar V, Novack V, Gharib AM, Canales R, Adebogun A, Matsumoto E, Eccleston JL, Kleiner DE, Rosenzweig SD, Gunay-Aygun M, Uzel G, Fuss I, Childs R, Holland SM, Levy EB, Liang TJ, Heller T, Koh C.

Hepatol Commun (2018 Aug) 2:919-928. Abstract/Full Text

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R.

J Clin Invest (2018 Jul 2) 128:3041-3052. Abstract/Full Text

Social media: Why AASLD and its members must lead the conversation.

Heller T, Koh C, Kumar S.

Hepatology (2018 Jul) 68:4-6. Abstract/Full Text

Noncirrhotic portal hypertension.

Da BL, Koh C, Heller T.

Curr Opin Gastroenterol (2018 May) 34:140-145. Abstract/Full Text

The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease.

Straughan DM, McLoughlin KC, Mullinax JE, Marciano BE, Freeman AF, Anderson VL, Uzel G, Azoury SC, Sorber R, Quadri HS, Malech HL, DeRavin SS, Kamal N, Koh C, Zerbe CS, Kuhns DB, Gallin JI, Heller T, Holland SM, Rudloff U.

Clin Infect Dis (2018 Apr 17) 66:1427-1434. Abstract/Full Text

Optimizing lonafarnib treatment for the management of chronic delta hepatitis: The LOWR HDV-1 study.

Yurdaydin C, Keskin O, Kalkan Ç, Karakaya F, Çalişkan A, Karatayli E, Karatayli S, Bozdayi AM, Koh C, Heller T, Idilman R, Glenn JS.

Hepatology (2018 Apr) 67:1224-1236. Abstract/Full Text

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.

Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M, NISC Comparative Sequencing Program.

J Pediatr Gastroenterol Nutr (2018 Mar) 66:428-435. Abstract/Full Text

Reply.

Koh C, Sakiani S, Heller T.

Hepatology (2018 Feb) 67:799-800. Abstract/Full Text

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A (2017 Dec) 173:3231-3237. Abstract/Full Text

Cover Image, Volume 173A, Number 12, December 2017.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A (2017 Dec) 173:i. Abstract/Full Text

Three variants in the nicotinamide adenine dinucleotide phosphate oxidase complex are associated with HCV-related liver damage.

Page SJ, Rivera MM, Kleiner DE, Zhao X, Auh S, Remmers EF, Heller T.

Hepatol Commun (2017 Nov) 1:973-982. Abstract/Full Text

A Misleading Pattern of Serologic Findings During Hepatitis B Virus Infection.

Ben-Yakov G, Devika K, Etzion O, Koh C, Heller T.

Ann Intern Med (2017 Oct 17) 167:603-604. Abstract/Full Text

Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome.

Arora M, Bagi P, Strongin A, Heimall J, Zhao X, Lawrence MG, Trivedi A, Henderson C, Hsu A, Quezado M, Kleiner DE, Venkatesan AM, Holland SM, Freeman AF, Heller T.

J Clin Immunol (2017 Oct) 37:695-700. Abstract/Full Text

Phase I and Preliminary Phase II Study of TRC105 in Combination with Sorafenib in Hepatocellular Carcinoma.

Duffy AG, Ma C, Ulahannan SV, Rahma OE, Makarova-Rusher O, Cao L, Yu Y, Kleiner DE, Trepel J, Lee MJ, Tomita Y, Steinberg SM, Heller T, Turkbey B, Choyke PL, Peer CJ, Figg WD, Wood BJ, Greten TF.

Clin Cancer Res (2017 Aug 15) 23:4633-4641. Abstract/Full Text

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan MCV, Gahl WA, Gunay-Aygun M.

Genet Med (2017 Aug) 19:875-882. Abstract/Full Text

Adult-onset cystic fibrosis liver disease: Diagnosis and characterization of an underappreciated entity.

Koh C, Sakiani S, Surana P, Zhao X, Eccleston J, Kleiner DE, Herion D, Liang TJ, Hoofnagle JH, Chernick M, Heller T.

Hepatology (2017 Aug) 66:591-601. Abstract/Full Text

Pharmacokinetics and pharmacodynamics modeling of lonafarnib in patients with chronic hepatitis delta virus infection.

Canini L, Koh C, Cotler SJ, Uprichard SL, Winters MA, Han MAT, Kleiner DE, Idilman R, Yurdaydin C, Glenn JS, Heller T, Dahari H.

Hepatol Commun (2017 Jun) 1:288-292. Abstract/Full Text

Submucosal Colonic Masses in a Patient With Familial Tumoral Calcinosis.

Ho N, Trivedi A, Collins MT, Heller T.

Am J Gastroenterol (2017 Apr) 112:532. Abstract/Full Text

Tremelimumab in combination with ablation in patients with advanced hepatocellular carcinoma.

Duffy AG, Ulahannan SV, Makorova-Rusher O, Rahma O, Wedemeyer H, Pratt D, Davis JL, Hughes MS, Heller T, ElGindi M, Uppala A, Korangy F, Kleiner DE, Figg WD, Venzon D, Steinberg SM, Venkatesan AM, Krishnasamy V, Abi-Jaoudeh N, Levy E, Wood BJ, Greten TF.

J Hepatol (2017 Mar) 66:545-551. Abstract/Full Text

Complications of percutaneous liver biopsy with Klatskin needles: a 36-year single-centre experience.

Takyar V, Etzion O, Heller T, Kleiner DE, Rotman Y, Ghany MG, Fryzek N, Williams VH, Rivera E, Auh S, Liang TJ, Hoofnagle JH, Koh C.

Aliment Pharmacol Ther (2017 Mar) 45:744-753. Abstract/Full Text

Noninvasive markers for staging fibrosis in chronic delta hepatitis.

Takyar V, Surana P, Kleiner DE, Wilkins K, Hoofnagle JH, Liang TJ, Heller T, Koh C.

Aliment Pharmacol Ther (2017 Jan) 45:127-138. Abstract/Full Text

Magnetic Resonance Elastography Shear Wave Velocity Correlates with Liver Fibrosis and Hepatic Venous Pressure Gradient in Adults with Advanced Liver Disease.

Gharib AM, Han MAT, Meissner EG, Kleiner DE, Zhao X, McLaughlin M, Matthews L, Rizvi B, Abd-Elmoniem KZ, Sinkus R, Levy E, Koh C, Myers RP, Subramanian GM, Kottilil S, Heller T, Kovacs JA, Morse CG.

Biomed Res Int (2017) 2017:2067479. Abstract/Full Text

Simtuzumab treatment of advanced liver fibrosis in HIV and HCV-infected adults: results of a 6-month open-label safety trial.

Meissner EG, McLaughlin M, Matthews L, Gharib AM, Wood BJ, Levy E, Sinkus R, Virtaneva K, Sturdevant D, Martens C, Porcella SF, Goodman ZD, Kanwar B, Myers RP, Subramanian M, Hadigan C, Masur H, Kleiner DE, Heller T, Kottilil S, Kovacs JA, Morse CG.

Liver Int (2016 Dec) 36:1783-1792. Abstract/Full Text

Genetic Risk for Inflammatory Bowel Disease Is a Determinant of Crohn's Disease Development in Chronic Granulomatous Disease.

Huang C, De Ravin SS, Paul AR, Heller T, Ho N, Wu Datta L, Zerbe CS, Marciano BE, Kuhns DB, Kader HA, Holland SM, Malech HL, Brant SR, NIDDK IBD Genetics Consortium,.

Inflamm Bowel Dis (2016 Dec) 22:2794-2801. Abstract/Full Text

Haploidentical related donor hematopoietic stem cell transplantation with post-transplantation cyclophosphamide for DOCK8 deficiency.

Freeman AF, Shah NN, Parta M, Su HC, Brofferio A, Gradus-Pizlo I, Butty S, Hughes TE, Kleiner DE, Avila D, Heller T, Kong HH, Holland SM, Hickstein DD.

J Allergy Clin Immunol Pract (2016 Nov-Dec) 4:1239-1242.e1. Abstract/Full Text

Ataxia telangiectasia associated with nodular regenerative hyperplasia.

Milligan KL, Schirm K, Leonard S, Hussey AA, Agharahimi A, Kleiner DE, Fuss I, Lingala S, Heller T, Rosenzweig SD.

J Clin Immunol (2016 Nov) 36:739-742. Abstract/Full Text

The many faces of positive hepatitis B surface antigen.

Tang DM, Heller T, Koh C.

Hepatology (2016 Oct) 64:1379-81. Abstract/Full Text

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

Ramnitz MS, Gourh P, Goldbach-Mansky R, Wodajo F, Ichikawa S, Econs MJ, White KE, Molinolo A, Chen MY, Heller T, Del Rivero J, Seo-Mayer P, Arabshahi B, Jackson MB, Hatab S, McCarthy E, Guthrie LC, Brillante BA, Gafni RI, Collins MT.

J Bone Miner Res (2016 Oct) 31:1845-1854. Abstract/Full Text

Hepatobiliary and Pancreatic: Not all that "Glisson's" is fat.

Han M, Rehman RB, Kleiner D, Cohen J, Heller T.

J Gastroenterol Hepatol (2016 Sep) 31:1515. Abstract/Full Text

β-Catenin activation in fundic gland polyps, gastric cancer and colonic polyps in families afflicted by 'gastric adenocarcinoma and proximal polyposis of the stomach' (GAPPS).

McDuffie LA, Sabesan A, Allgäeuer M, Xin L, Koh C, Heller T, Davis JL, Raffeld M, Miettienen M, Quezado M, Rudloff U.

J Clin Pathol (2016 Sep) 69:826-33. Abstract/Full Text

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Ferre EM, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, Rosen LB, Break TJ, Gu W, Hunsberger S, Browne SK, Hsu AP, Rampertaap S, Swamydas M, Collar AL, Kong HH, Lee CR, Chascsa D, Simcox T, Pham A, Bondici A, Natarajan M, Monsale J, Kleiner DE, Quezado M, Alevizos I, Moutsopoulos NM, Yockey L, Frein C, Soldatos A, Calvo KR, Adjemian J, Similuk MN, Lang DM, Stone KD, Uzel G, Kopp JB, Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS.

JCI Insight (2016 Aug 18) 1. Abstract/Full Text

Gastrointestinal: Adult presentation of intestinal malrotation.

Eccleston JL, Su H, Ling A, Heller T, Koh C.

J Gastroenterol Hepatol (2016 Aug) 31:1382. Abstract/Full Text

Danazol Treatment for Telomere Diseases.

Townsley DM, Dumitriu B, Liu D, Biancotto A, Weinstein B, Chen C, Hardy N, Mihalek AD, Lingala S, Kim YJ, Yao J, Jones E, Gochuico BR, Heller T, Wu CO, Calado RT, Scheinberg P, Young NS.

N Engl J Med (2016 May 19) 374:1922-31. Abstract/Full Text

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G.

Am J Hum Genet (2016 May 5) 98:830-842. Abstract/Full Text

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

Khangura SK, Kamal N, Ho N, Quezado M, Zhao X, Marciano B, Simpson J, Zerbe C, Uzel G, Yao MD, DeRavin SS, Hadigan C, Kuhns DB, Gallin JI, Malech HL, Holland SM, Heller T.

Clin Gastroenterol Hepatol (2016 Mar) 14:395-402.e5. Abstract/Full Text

Cosyntropin-Stimulated Serum Free Cortisol in Healthy, Adrenally Insufficient, and Mildly Cirrhotic Populations.

Rauschecker M, Abraham SB, Abel BS, Wesley R, Saverino E, Trivedi A, Heller T, Nieman LK.

J Clin Endocrinol Metab (2016 Mar) 101:1075-81. Abstract/Full Text

Reply to Tennant and Post.

Sakiani S, Koh C, Heller T.

J Infect Dis (2016 Jan 15) 213:325-6. Abstract/Full Text

Endemic mycoses in patients with STAT3-mutated hyper-IgE (Job) syndrome.

Odio CD, Milligan KL, McGowan K, Rudman Spergel AK, Bishop R, Boris L, Urban A, Welch P, Heller T, Kleiner D, Jackson MA, Holland SM, Freeman AF.

J Allergy Clin Immunol (2015 Nov) 136:1411-3.e1-2. Abstract/Full Text

Transient elastography for the detection of hepatic fibrosis in HIV-monoinfected adults with elevated aminotransferases on antiretroviral therapy.

Morse CG, McLaughlin M, Proschan M, Koh C, Kleiner DE, Heller T, Kovacs JA.

AIDS (2015 Nov) 29:2297-302. Abstract/Full Text

Liver injury is associated with mortality in sickle cell disease.

Feld JJ, Kato GJ, Koh C, Shields T, Hildesheim M, Kleiner DE, Taylor JG 6th, Sandler NG, Douek D, Haynes-Williams V, Nichols JS, Hoofnagle JH, Jake Liang T, Gladwin MT, Heller T.

Aliment Pharmacol Ther (2015 Oct) 42:912-21. Abstract/Full Text

Treatment With Anakinra, a Recombinant IL-1 Receptor Antagonist, Unlikely to Induce Lasting Remission in Patients With CGD Colitis.

Hahn KJ, Ho N, Yockey L, Kreuzberg S, Daub J, Rump A, Marciano BE, Quezado M, Malech HL, Holland SM, Heller T, Zerbe CS.

Am J Gastroenterol (2015 Jun) 110:938-9. Abstract/Full Text