Keefer-Jacques E, Valente N, Jacko AM, Matwijec G, Reese A, Tekriwal A, Loomes KM, Spinner NB, Gilbert MA. (2024) Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools. HGG Advances. 5(4). 

Gilbert MA, Keefer-Jacques E, Jadhav T, Antfolk D, Ming Q, Valente N, Shaw GT-W, Sottolano CJ, Matwijec G, Luca VC, Loomes KM, Rajagopalan R, Hayeck TJ, Spinner NB. (2024) Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. AJHG. 111(8):1656-1672.

Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz-Miedzinska D, Gonzales EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA...Kamath BM, The Global ALagille Alliance (GALA) Study Group. (2023) Natural history of liver disease in a large international cohort of children with Alagille syndrome: results from the GALA study. Hepatology. 77(2):512-529

Kohut TJ, Gilbert MA, and Loomes KM. (2021) Alagille syndrome: A focused review on clinical features, genetics and treatment. Semin Liver Dis. 41(4):525-537

Schindler EA, Gilbert MA, Piccoli DA, Spinner NB, Krantz ID, and Loomes KM. (2021) Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes. Am J Med Genet A. 185(3):719-731.

Rajagopalan R*, Gilbert MA*, McEldrew DA, Nassur JA, Loomes KM, Piccoli DA, Krantz ID, Conlin LK, and Spinner NB. (2021) Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results. Genet Med. 23(2):323-330.

Gilbert MA and Loomes KM. (2021) Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts. Transl Gastroenterol Hepatol. 6.

Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, and Spinner NB. (2020) Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Hum Mutat. 41(5):973-982.

Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. (2019) Alagille syndrome mutation updated: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 40(12):2197-2220.

Mitchell E and Gilbert MA. (2018) Alagille syndrome. Clin Liver Dis. 22(4):625-641.

Chen Y*, Gilbert MA*, Grochowski CM, McEldrew D, Llewellyn J, Waisbourd-Zinman O, Hakonarson H, Bailey-Wilson JE, Russo P, Wells RG, Loomes KM, Spinner NB, Devoto M. (2018) A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. PLoS Genet. 14(8):e1007532.

Gilbert MA and Spinner NB. (2018) Genetics of Alagille syndrome. In: Kamath B and Loomes K (eds) Alagille Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-319-94571-2_3.

Gilbert MA and Spinner NB (2017) Alagille Syndrome: Genetics and Functional Models. Curr Pathobiol Rep. 5(3):233-241.

Tsai E*, Gilbert MA*, Grochowski CM, Underkoffler LA, Meng H, Zhang X, Wang MW, Shitaye H, Hankenson KD, Piccoli D, Lin H, Kamath BM, Devoto M, Spinner NB, and Loomes KM. (2016) THBS2 is a candidate modifier of liver disease severity in Alagille syndrome. Curr Gastroenterol Rep. 2(5):663-675e2.

Rajagopalan R, Grochowski CM, Gilbert MA, Falsey AM, Coleman K, Romero R, Loomes KM, Piccoli DA, Devoto M, Spinner NB. (2016) Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. Am J Med Genet A. 170(3):750-753.

Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandraseharappa SC. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet. 16(3):235-242.

Li L, Krantz ID, Deng YU, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont MEM, 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. 16(3)243-251.