Anbunathan H, Verstraten R, Singh A, Harbour JW, Bowcock AM. Integrative copy number analysis of uveal melanoma reveals novel candidate genes involved in tumorigenesis including a tumor suppressor role for PHF10/BAF45a. Clinical Cancer Res. PMID: 31227497

Field, M.G., Durante, M.A., Anbunathan, H., Cai, L.Z., Decatur, C.L., Bowcock, A.M., Kurtenbach, S., Harbour, J.W. Punctated evolution of canonical genomic aberrations in uveal melanoma. Nat. Commun. 9, 115 (2018) PMID:29317634

Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. J Am Acad Dermatol. 79:487-494. (2018) PMID:29477734

Howes A, O’Sullivan PA, Breyer F, Ghose A, Cao L, Krappmann D, Bowcock AM, Ley SC. Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-κB activation. Biochem J. 2016 Jun 15;473(12):1759-68. PubMed PMID: 27071417

Yin X, Low HQ, Wang L, Li Y, Ellinghaus E, Han J, Estivill X, Sun L, Zuo X, Shen C, Zhu C, Zhang A, Sanchez F, Padyukov L, Catanese JJ, Krueger GG, Duffin KC, Mucha S, Weichenthal M, Weidinger S, Lieb W, Foo JN, Li Y, Sim K, Liany H, Irwan I, Teo Y, Theng CT, Gupta R, Bowcock A, De Jager PL, Qureshi AA, de Bakker PI, Seielstad M, Liao W, Ståhle M, Franke A, Zhang X, Liu J. Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility (2015) Nat Commun. 6:6916. PMID: 25903422

Harbour JW, Roberson ED, Anbunathan H, Onken MD, Worley LA, Bowcock AM. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet. 2013 Feb;45(2):133-5. PubMed PMID: 23313955; PubMed Central PMCID: PMC3789378.

Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, Gladman D, Elder JT, Menter A, Bowcock AM. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet. 2012 May 4;90(5):796-808. PubMed PMID: 22521419; PubMed Central PMCID: PMC3376540.

Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, Ryan C, Duan S, Helms CA, Liu Y, Chen Y, McBride AA, Hwu WL, Wu JY, Chen YT, Menter A, Goldbach-Mansky R, Lowes MA, Bowcock AM. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012 May 4;90(5):784-95. PubMed PMID: 22521418; PubMed Central PMCID: PMC3376640.

Joyce CE, Zhou X, Xia J, Ryan C, Thrash B, Menter A, Zhang W, Bowcock AM. Deep sequencing of small RNAs from human skin reveals major alterations in the psoriasismiRNAome. Hum. Molec. Genet.  Epub (2011) PMID:21807764

Harbour JW, Onken MD, Roberson ED, Duan S, Cao L, Worley LA, Council ML, Matatall KA, Helms C, Bowcock AM. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science. 2010 Dec 3;330(6009):1410-3. PubMed PMID: 21051595; PubMed Central PMCID: PMC3087380.

Thai TH, Du F, Tsan JT, Jin Y, Phung A, Spillman MA, Massa HF, Muller CY, Ashfaq R, Mathis JM, Miller DS, Trask BJ, Baer R, Bowcock AM. Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers. Hum Mol Genet. 1998 Feb;7(2):195-202. PubMed PMID: 9425226.

Tomfohrde J, Silverman A, Barnes R, Fernandez-Vina MA, Young M, Lory D, Morris L, Wuepper KD, Stastny P, Menter A. Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science. 1994 May 20;264(5162):1141-5. PubMed PMID: 8178173.

Bowcock AM, Ruiz-Linares A, Tomfohrde J, Minch E, Kidd JR, Cavalli-Sforza LL. High resolution of human evolutionary trees with polymorphic microsatellites. Nature. 1994 Mar 31;368(6470):455-7. PubMed PMID: 7510853.


U.S. Patent Application entitled “Compositions and Uses Thereof in the Diagnosis of Psoriasis, Anne Bowcock, et al.  Patent Number 5,811,233.

U.S. Patent 9,133,523 entitled “COMPOSITIONS AND METHODS FOR DETECTING CANCER METASTASIS” James William Harbour and Anne Bowcock. Issued on September 15, 2015. Licensed to Castle Biosciences 10/2011