Alagille Syndrome Publications

Physicians and researchers from Children's Hospital of Philadelphia have studied and written numerous articles and book chapters about Alagille syndrome. Our team has expanded the world’s understanding about the causes of this disorder and continue to develop new therapies to address the conditions most serious effects.

Below is a list of publications by CHOP physicians, researchers and staff. Each offered detailed medical information about Alagille syndrome and many are available online.


Mitchell Ellen, Gilbert Melissa, Loomes Kathleen M: Alagille Syndrome. Clinics in liver disease 22(4): 625-641, 11 2018

Shneider Benjamin L, Spino Cathie, Kamath Binita M, Magee John C, Bass Lee M, Setchell Kenneth D, Miethke Alexander, Molleston Jean P, Mack Cara L, Squires Robert H, Murray Karen F, Loomes Kathleen M, Rosenthal Philip, Karpen Saul J, Leung Daniel H, Guthery Stephen L, Thomas Danny, Sherker Averell H, Sokol Ronald J: Placebo-Controlled Randomized Trial of an Intestinal Bile Salt Transport Inhibitor for Pruritus in Alagille Syndrome. Hepatology communications 2(10): 1184-1198, Oct 2018

Kamath BM and Loomes KM: Alagille Syndrome:  Pathogenesis and Clinical Management. Book. Springer, 2018.


Kaye AJ, Rand EB, Munoz PS, Spinner NB, Flake AW, Kamath BM. Effect of Kasai procedure on hepatic outcome in Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010 Jun 30. Cited in PubMed; PMID 20601899. 

Kamath BM, Loomes KM, Piccoli DA. JAGGED1NOTCH2 sequence in Alagille syndrome. In: Murray K, Larson AM, editors. Fibrocystic disease of the liver. 1st ed. New York: Springer-Verlag; 2010.


Kamath BM, Piccoli DA. Alagille syndrome. In: Liacouras CA, Piccoli DA, editors. Pediatric gastroenterology: the requisites. Philadelphia: Saunders/Churchill/Mosby; 2008. p. 227-232.


Spinner NB. Genetics of Alagille Syndrome. Prog in Cardiol. 2005; 20:169-176

Arvay JL, Zemel BS, Gallagher PR, Rovner AJ, Mulberg AE, Stallings VA, Haber BA. Body composition of children aged 1 to 12 years with biliary atresia or Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005;40(2):146-50.

Olsen IE, Ittenbach RF, Rovner AJ, Leonard MB, Mulberg AE, Stallings VA, Piccoli DA,Zemel BS. Deficits in size-adjusted bone mass in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005 Jan;40(1):76-82.

Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, Whitington PF, Piccoli DA. Intracranial vascular abnormalities in patients with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005;41(1):99-107.

Kamath BM, Krantz ID. Alagille Syndrome. In: Cassidy and Allanson, editor. Management of Genetic Syndromes, 2nd edition.. Wiley-Liss, 2005, p. 31-40.


Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation. 2004; 109 (11):1354-8.

Kamath BM, Piccoli DA. Alagille Syndrome. In: Encyclopedia of Pediatric Gastroenterology. Elsevier; 2004. p. 20-24.

Piccoli DA, Witzleben CL. Disorders of Intrahepatic Bile Ducts. In: Walker , Goulet, Kleinman, Sherman, Shneider, Sanderson editors. Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management. 4th ed. Hamilton, Ontario: BC Decker Inc.;2004.


Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Consequences of JAG1 mutations. J Med Genet. 2003; 40(12):891-5.

Kamath BM, Piccoli DA. Heritable disorders of the bile ducts. Gastroenterol Clin North Am. 2003 Sep;32(3):857-75.


McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation. 2002; 106(20):2567-74.

Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA,Krantz ID. Facial features in Alagille syndrome: specific or cholestasis facies? Am J Med Genet. 2002;112(2):163-70.

Albayram F, Stone K, Nagey D, Schwarz KB, Blakemore K. Alagille syndrome: prenatal diagnosis and pregnancy outcome. Fetal Diagn Ther. 2002;17(3):182-4.

Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID. Craniosynostosis in Alagille syndrome. Am J Med Genet. 2002;112(2)176-80.

Rovner AJ, Schall JI, Jawad AF, Piccoli DA, Stallings VA, Mulberg AE, Zemel BS. Rethinking growth failure in Alagille syndrome: the role of dietary intake and steatorrhea. J Pediatr Gastroenterol Nutr. 2002;35(4):495-502.


Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M. Mutation Update: Jagged1 Mutations in Alagille syndrome. Hum Mut. 2001; 17:18-33.

Piccoli DA. Alagille Syndrome. In: Suchy F, editor. Liver Disease in Children, 2nd ed. Philadelphia: W.B. Saunders; 2001. p. 327-342.


Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology. 1999; 29(3):822-9.

Krantz ID, Piccoli DA, Spinner NB. Clinical and molecular genetics of Alagille syndrome. Curr Opin Pediatr. 1999; 11(6):558-64.

Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB. Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet. 1999; 84(1):56-60.

Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, Oakey RJ. The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Hum Mol Genet. 1999; 8(13):2443-9.

Louis AA, Van Eyken P, Haber BA, Hicks C, Weinmaster G, Taub R, Rand EB. Hepatic jagged1 expression studies. Hepatology. 1999;30(5):1269-75.

Spinner NB. Alagille syndrome and the notch signaling pathway: new insights into human development. Gastroenterology. 60, 1999; 116(5):1257-60.

Wasserman D, Zemel BS, Mulberg AE, John HA, Emerick KM, Barden EM, Piccoli DA, Stallings VA. Growth, nutritional status, body composition, and energy expenditure in prepubertal children with Alagille syndrome. J Pediatr. 1999; 134(2):172-7.


Rand EB. The genetic basis of the Alagille syndrome. J Pediatr Gastroenterol Nutr. 1998; 26(2):234-6.


Krantz ID, Piccoli DA, Spinner NB. Syndrome of the month: Alagille syndrome. J Med Genet. 1997; 34: 152-157.

Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet. 1997; 16(3):243-51.

Rand EB. Alagille syndrome. In Altschuler SM, Liacouras CA., editors. Pediatric Gastroenterology. London: Churchill, Livingstone, Inc.; 1997.


Witzleben CL, Finegold M, Piccoli DA, Treem WR. Bile canalicular morphometry in arteriohepatic dysplasia. Hepatology. 1987; 7:1262-1266.