Publications 2015

2015

Abbas M, Schwartz ME, Smith FJD, McLean WHI, Hull PR (2015) PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita. J Cutan Med Surg 19:57-65 [Epub ahead of print Jan 1, 2015] (PubMed ID: 25775665)

Brough HA, Liu AH, Sicherer S, Makinson K, Douiri A, Brown SJ, Stephens AC, McLean WHI, Turcanu V, Wood RA, Jones SM, Burks W, Dawson P, Stablein D, Sampson H, Lack G (2015) Atopic dermatitis increases the effect of exposure to peanut antigen in dust on peanut sensitization and likely peanut allergy. J Allergy Clin Immunol 135:164-170 [Epub ahead of print Nov 18, 2014] (PubMedID: 25457149)

Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WHI, Simpson MA and McGrath JA (2015) Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. Br J Dermatol 172:94-100 [Epub ahead of print Jun 19, 2014] (PubMed ID: 24947307)

Baurecht H, Hotze M, Brand S, Büning C, Cormican P, Corvin A, Ellinghaus D, Ellinghaus E, Esparza-Gordillo J, Fölster-Holst R, Franke A, Gieger C, Hubner N, Illig T, Irvine AD, Kabesch M, Lee YA, Lieb W, Marenholz I, McLean WHI, Morris DW, Mrowietz U, Nair R, Nöthen MM, Novak N, O'Regan GM; PAGE Consortium, Schreiber S, Smith C, Strauch K, Stuart PE, Trembath R, Tsoi LC, Weichenthal M, Barker J, Elder JT, Weidinger S, Cordell HJ, Brown SJ (2015)  Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.  Am J Hum Genet 96:104-120 (PubMed ID: 25574825)

Kelleher M, Dunn-Galvin A, Hourihane JO, Murray D, Campbell LE, McLean WHI, Irvine AD (2015) Skin barrier dysfunction measured by transepidermal water loss at 2 days and 2 months predates and predicts atopic dermatitis at 1 year. J Allergy Clin Immunol 135:930-5 [Epub ahead of print Jan 22, 2015] (PubMed ID: 25618747)

Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WHI, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y (2015) Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads.  Am J Hum Genet [Epub ahead of print Feb 11, 2015] (PubMed ID: 25683118)

Harkins CP, Waters A, Kerr A, Campbell L, McLean WHI, Brown SJ, Ibbotson SH (2015) Loss-of-Function Mutations in the Gene Encoding Filaggrin are not Strongly Associated with Chronic Actinic Dermatitis.  J Invest Dermatol [Epub ahead of print Mar 3, 2015] (PubMed ID: 25734812)

van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WHI, Cassidy AJ (2015) Novel TGM5 mutations in acral peeling skin syndrome.  Exp Dermatol 24:285-289 (PubMed ID: 25644735)

Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJD, McLean WHI, Munro CS, Zamiri M (2015) Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.  Br J Dermatol 173:1291-1294 [Epub ahead of print May 12, 2015] (PubMed ID: 25965869)

Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O'Toole EA, Schwartz ME, McLean WHI, Smith FJD (2015) Expanding the Phenotypic Spectrum of Olmsted Syndrome. J Invest Dermatol 135:2879-2883 [Epub ahead of print Jun 12, 2015] (PubMed ID: 26067147)

Riethmuller C, McAleer MA, Koppes SA, Abdayem R, Franz J, Haftek M, Campbell LE, MacCallum SF, McLean WHI, Irvine AD, Kezic S (2015) Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis.  J Allergy Clin Immunol 136:1573-1580 [Epub ahead of print Jun 11, 2015] (PubMed ID: 26071937)

McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WHI, Irvine AD (2015) Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.  J Allergy Clin Immunol 136:1268-1276 [Epub ahead of print Jun 12, 2015] (Pub Med ID: 26073755)

Healy E, Brown SJ, Langan SM, Nicholls SG, Shams K, Reynolds NJ; UK TREND (Ardern-Jones M, Benham M, Jaega M, Leigh I, McLean I, Rush E, Walton S, Griffiths C.) (2015) Identification of translational dermatology research priorities in the U.K.: results of an electronic Delphi exercise.Br J Dermatol 173:1191-8 [Epub ahead of print Jul 6, 2015]  (PubMed ID: 26149834)

Schmitt J, Schwarz K, Baurecht H, Hotze M, Fölster-Holst R, Rodríguez E, Lee YA, Franke A, Degenhardt F, Lieb W, Gieger C, Kabesch M, Nöthen MM, Irvine AD, McLean WHI, Deckert S, Stephan V, Schwarz P, Aringer M, Novak N, Weidinger S (2015) Atopic dermatitis is associated with an increased risk for rheumatoid arthritis and inflammatory bowel disease, and a decreased risk for type 1 diabetes.  J Allergy Clin Immunol [Epub ahead of print Aug 4, 2015] (PubMed ID: 26253344)

Watt SA, Dayal JH, Wright S, Riddle M, Pourreyron C, McMillan JR, Kimble RM, Prisco M, Gartner U, Warbrick E, McLean WHI, Leigh IM, McGrath JA, Salas-Alanis JC, Tolar J, South AP (2015) Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.  PLoS One. 2015 Sep 18;10(9):e0137639 (PubMed ID: 26380979)

Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S (2015) Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.  Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4 (PubMed ID: 26471370)

Ried JS, Li J, Zuo XB, Zheng XD, Yin XY, Sun LD, McAleer MA, O'Regan GM, Fahy CM, Campbell LE, Macek M, Kurek M, Hu D, Eng C, Postma DS, Feenstra B, Geller F, Hottenga JJ, Middeldorp CM, Hysi P, Bataille V, Spector T, Tiesler CM, Thiering E, Pahukasahasram B, Yang JJ, Imboden M, Huntsman S, Vilor-Tejedor N, Relton CL, Myhre R, Nystad W, Custovic A, Weiss ST, Meyers DA, Söderhäll C, Melén E, Ober C, Raby BA, Simpson A, Jacobsson B, Holloway JW, Bisgaard H, Sunyer J, Probst-Hensch NM, Williams LK, Godfrey KM, Wang CA, Boomsma DI, Melbye M, Koppelman GH, Jarvis D, McLean WHI, Irvine AD, Zhang XJ, Hakonarson H, Gieger C, Burchard EG, Martin NG, Duijts L, Linneberg A, Jarvelin MR, Nöthen MM, Lau S, Hübner N, Lee YA, Tamari M, Hinds DA, Glass D, Brown SJ, Heinrich J, Evans DM, Weidinger S (2015).  Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.  Nature Genetics 47:1449-1456 [Epub ahead of print 29 Oct 2015] (PubMed ID: 26482879)