Benjamin J Wilkins, MD, PhD

faculty photo
Associate Professor of Clinical Pathology and Laboratory Medicine
Faculty Director, Immunohistochemistry laboratory, Children's Hospital of Philadelphia
Faculty Director, Pathology research core, Children's Hospital of Philadelphia
Faculty Director, New Faculty Mentoring, Division of Anatomic Pathology, Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine

Contact information
Children's Hospital of Philadelphia
Main Hospital 5NW08
3401 Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-0174
Fax: 215-590-1736
Education:
B.S. (Biology)
John Carroll University, Cleveland, Ohio, 1998.
Ph.D. (Molecular and Developmental Biology)
University of Cincinnati College of Medicine, Cincinnati, Ohio, 2004.
M.D.
University of Cincinnati College of Medicine, Cincinnati, Ohio, 2006.
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Description of Clinical Expertise

I am a board-certified pediatric anatomic pathologist. My clinical interest and expertise is in the diagnosis of pediatric gastrointestinal and liver disease. Particular areas of interest include neonatal cholestasis, very early onset inflammatory bowel disease (VEO-IBD), and Hirschsprung disease. In addition to these areas, I sign out cases encompassing a wide spectrum of pediatric pathology, including perinatal pathology (fetal autopsy and placenta), pediatric autopsy, and surgical pathology of neoplastic, medical, and congenital diseases.

Description of Research Expertise

My research focus is on collaborative studies that characterize phenotypes related to gastrointestinal and liver diseases in human subjects and animal models (mouse and zebrafish). Current studies include multiple projects related to eosinophilic esophagitis; histopathologic characterization of patients with very early onset inflammatory bowel disease (VEO-IBD); comparative clinical and histopathologic characterization of collagenous gastritis and eosinophilic gastritis; clinicopathologic study of bile duct paucity in neonatal cholestasis; histopathologic characterization of GI polyps in juvenile polyposis syndrome; and liver fibrosis in patients with long-standing single ventricle (Fontan) physiology. My prior laboratory research focused primarily on the role of CIRH1A in liver development using zebrafish as a model system, and mechanisms whereby the recessive CIRH1A R565W mutation found in patients with Progressive Cholestasis of Northwestern Quebec (formerly North American Indian Childhood Cirrhosis) lead to congenital biliary disease.

Selected Publications

Shieh PB, Proud C, Diamond T, Chapin CA, Ahmad J, Salama AD, Bönnemann CG, Soslow J, Byrne BJ, Veerapandiyan A, Brandsema JF, Matesanz S, Samelson-Jones BJ, Wilkins BJ, Gerber M, Godwin Wild KE, Mason S, Asher D, McDonald CM, Mendell JR.: Learnings from Patient Mortality after Delandistrogene Moxeparvovec Administration: A Report of Two Cases and Expert Committee Considerations for Future Mitigation and Management. Hum Gene Ther Feb 2026.

Teranishi R, Itami T, Sasaki M, Kennedy KV, Zhou Y, Umeweni CN, Mcmillan EA, Anandakrishnan A, Lee R, Dhakal D, Golden H, Davis G, Karakasheva TA, Mahon M, Peterson B, Winters H, Vinit N, Pollack J, Wilkins B, Weschler J, Manfredi M, Hamilton TE, Dao DT, Whelan KA, Wechsler J, Spinner N, Partridge E, Muir AB.: Prostaglandin E₂ Reverses Myofibroblast Differentiation in Eosinophilic Esophagitis. bioRxiv Jan 2026.

Vazzano Goldstone J, Logan SJ, Wilkins BJ, MacFarland SP, Conces M, Boué DR, Pierson CR, Kahwash S, Schieffer KM, Cottrell CE, Colace S, Zajo K, Shenoy A.: Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines. Diagn Pathol 21: 17, Jan 2026.

Houlihan TH, Gartenberg A, Dodds KM, Rand EB, Wu J, Roberts A, Glatz AC, O'Byrne M, Russo P, Wilkins B, Cahill AM, Goldberg DJ, Rychik J.: Clinical Characteristics Associated With Variability in Biopsy Grade Severity of Liver Fibrosis in Fontan Circulation. JACC Adv 2026.

Sasaki M, Wang JX, Teranishi R, Itami T, Zhou Y, Kennedy KV, Semeao A, Ishikawa S, Hara T, McMillan EA, Mahon M, Golden H, Dhakal D, Baccarella A, Winters H, Umeweni CN, Wilkins BJ, Karakasheva TA, Whelan KA, Shaffer SM, Ruffner MA, Muir AB.: FOXM1 inhibition reduces IL-13-induced epithelial remodelling and inflammation in eosinophilic oesophagitis. Gut Nov 2025.

Koo SC, Ma J, Tran QT, Alaggio R, Stracuzzi A, Chou PM, Wilkins BJ, Orr BA, Malik F.: Recurrent FGFR2 and PIK3CA Mutations in Sialoblastoma. Head Neck Pathol 19: 107, Sep 2025.

Morimoto M, Kawasaki K, McNamee N, Flashner S, Shimonosono R, Shimonosono M, Matsuura N, Tomita Y, Hirose W, Teranishi R, Itami T, Guha M, Rajagopalan P, Martin C, Golden H, Dhakal D, Wilkins BJ, Klein-Szanto AJ, Wangensteen KJ, Abrams JA, Pomenti S, Katzka DA, Que J, Whelan KA, Muir AB, Kita H, Wright BL, Doyle AD, Nakagawa H, Sachdeva UM.: Mitochondrial dysfunction drives basal cell hyperplasia in eosinophilic oesophagitis. Gut 74: 1571-1588, Sep 2025.

Alkashash A, Bhamidipalli S, Wilkins BJ, Saeed OA, González IA.: Validation of a Recently Proposed Histologic Grading System (The Farooq Grade) for Colonic Graft-Versus-Host Disease in the Pediatric Population. Pediatr Dev Pathol Apr 2025.

Sule R, Hu P, Shoffler C, Petucci C, Wilkins BJ, Rychik J, Pei L.: Comprehensive Multiomic Analysis Reveals Metabolic Reprogramming Underlying Human Fontan-Associated Liver Disease. J Am Heart Assoc 14(6): e039201, Mar 2025.

Coorens THH, Guillaumet-Adkins A, Kovner R, Linn RL, Roberts VHJ, Sule A, Van Hoose PM; dGTEx Consortium.: The human and non-human primate developmental GTEx projects. Nature 637(8046): 557-564, Jan 2025.

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Last updated: 02/23/2026
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