Dulloo I, Tellier M, Levet C, Chikh A, Zhang B, Blaydon DC, Webb CM, Kelsell DP and Freeman M (2024). Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway. Elsevier  Molecular Cell  vol. 84, (2) 277-292.e9. 10.1016/j.molcel.2023.12.012

O'Toole EA, Kelsell DP, Caterina MJ, de Brito M, Hansen D, Hickerson RP, Hovnanian A, Kaspar R, Lane EB, Paller AS, Schwartz J, Shroot B, Teng J, Titeux M, Coulombe PA and Sprecher E (2023). Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches. Elsevier  Journal of Investigative Dermatology  10.1016/j.jid.2023.10.030

Murtough S, Babu D, Webb CM, Picard HLD, McGinty LA, Chao-Chu J, Pink R, Silver AR, Smart HL, Field JK, Woodland P, Risk JM, Blaydon DC, Pennington DJ and Kelsell DP (2023). INVESTIGATING iRHOM2-ASSOCIATED TRANSCRIPTIONAL CHANGES IN TYLOSIS WITH ESOPHAGEAL CANCER. Elsevier  Gastro Hep Advances  10.1016/j.gastha.2023.12.007

Ustaoglu A, Daudali FA, D’afflitto M, Murtough S, Lee C, Moreno E, Blaydon DC, Kelsell DP, Sifrim D, Woodland P and Peiris M (2023). Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile. Frontiers  Frontiers in Immunology  vol. 14, 10.3389/fimmu.2023.1282577

Thomas BR, Tan XL, Van Duijvenboden S, Hogan SC, Hughes AJ, Tawfik SS, Dhoat S, Atkar R, Robinson EJ, Rahman SR, Rahman S, Ahmed RA, Begum R, Khanam H, Bourne EL, Wozniak EL, Mein CA, Kelsell DP and O’Toole EA (2023). Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population. Oxford University Press (Oup)  British Journal of Dermatology  vol. 188, (6) 785-792. 10.1093/bjd/ljad036

Tawfik SS, Thomas BR, Kelsell DP, Grigg J and O’Toole EA (2022). Dermatology Quality of Life Index scores in Bangladeshi patients with atopic eczema and their families in East London. Oxford University Press (Oup)  British Journal of Dermatology  vol. 188, (4) 524-532. 10.1093/bjd/ljac131

Ramos L, Yousaf Y, Kelsell D and Blaydon D (2022). 188 CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes. Elsevier  Journal of Investigative Dermatology  vol. 142, (12) 10.1016/j.jid.2022.09.199

Murtough S, Del Caño LR, Delaney PJ, Webb CM, Colom B, Jones PH, Blaydon D and Kelsell D (2022). 173 A Model to Unravel Pathways Underpinning Palmoplantar Homeostasis and Disease. Elsevier  Journal of Investigative Dermatology  vol. 142, (12) 10.1016/j.jid.2022.09.184

Thomas B, Kelsell D and O’Toole EA (2022). 099 Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status. Elsevier  Journal of Investigative Dermatology  vol. 142, (12) 10.1016/j.jid.2022.09.109

Unsicker K, Jockusch BM and Kelsell DP (2022). Obituary — Werner W. Franke. Springer Nature  Cell and Tissue Research  vol. 390, (3) 315-316. 10.1007/s00441-022-03713-x

Thomas BR, Tan XL, Javadzadeh S, Robinson EJ, McDonald BS, Krupiczojc MA, Rahman SR, Rahman S, Ahmed RA, Begum R, Khanam H, Kelsell DP, Grigg J, Knell RJ and O’Toole EA (2021). Modelling of temporal exposure to the ambient environment and eczema severity. Jid Innovations  100062-100062. 10.1016/j.xjidi.2021.100062

Thomas B, McDonald B, Dhoat S, Noimark L, Aston A, Robinson EJ, Rahman S, Ahmed RA, Begum R, Hogan S, Khanam H, Kelsell D and O’Toole EA (2021). 179 Phenotype association with Filaggrin loss of function from the Tower Hamlets Eczema Assessment (THEA). Elsevier  Journal of Investigative Dermatology  vol. 141, (10) 10.1016/j.jid.2021.08.183

Ng KE, Delaney PJ, Thenet D, Murtough S, Webb CM, Zaman N, Tsisanova E, Mastroianni G, Walker SLM, Westaby JD, Pennington DJ, Pink R, Kelsell DP and Tinker A (2021). Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy. Springer Nature  Cell and Tissue Research  vol. 386, (1) 79-98. 10.1007/s00441-021-03488-7

Chao-Chu J, Murtough S, Zaman N, Pennington DJ, Blaydon DC and Kelsell DP (2020). iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility. Elsevier  Journal of Investigative Dermatology  vol. 141, (4) 722-726. 10.1016/j.jid.2020.09.010

Peltonen S, Eming SA, Griffiths CEM, Széll M, Kelsell D and De Rie MA (2020). Celebrating the 50th Anniversary of ESDR. Elsevier  Journal of Investigative Dermatology  vol. 140, (9) s145-s146. 10.1016/j.jid.2020.02.043

Griffiths CEM, Széll M and Kelsell DP (2020). The Future of ESDR. Elsevier  Journal of Investigative Dermatology  vol. 140, (9) s192-s193. 10.1016/j.jid.2020.03.958

Enjalbert F, Dewan P, Caley MP, Jones EM, Morse MA, Kelsell DP, Enright AJ and O'Toole EA (2020). 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets. American Society For Clinical Investigation  Journal of Clinical Investigation  10.1172/JCI132987

Oliveira RTG, Christofolini DM, Criado PR, Martins EL, Kelsell D and Filho CDSM (2020). Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree. Wiley  International Journal of Dermatology  vol. 59, (6) 722-725. 10.1111/ijd.14894

Maruthappu T and Kelsell DP (2020). Inherited skin disease. Oxford Textbook of Medicine  Oxford University Press (Oup)  10.1093/med/9780198746690.003.0552

Waller K, James C, de Jong A, Blackmore L, Ma Y, Stagg A, Kelsell D, O'Dwyer M, Hutchins R and Alazawi W (2019). ADAM17-Mediated Reduction in CD14++CD16+ Monocytes ex vivo and Reduction in Intermediate Monocytes With Immune Paresis in Acute Pancreatitis and Acute Alcoholic Hepatitis. Frontiers  Frontiers in Immunology  vol. 10, 10.3389/fimmu.2019.01902

Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö, Kelsell DP and Yakıcıer MC (2019). A novel homozygous nonsense mutation in CAST associated with PLACK syndrome. Springer Nature  Cell and Tissue Research  vol. 378, (2) 267-277. 10.1007/s00441-019-03077-9

Elliott PM, Anastasakis A, Asimaki A, Basso C, Bauce B, Brooke MA, Calkins H, Corrado D, Duru F, Green KJ, Judge DP, Kelsell D, Lambiase PD, McKenna WJ, Pilichou K, Protonotarios A, Saffitz JE, Syrris P, Tandri H, Riele AT, Thiene G, Tsatsopoulou A and van Tintelen JP (2019). Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report. Wiley  European Journal of Heart Failure  vol. 21, (8) 955-964. 10.1002/ejhf.1534

Webb C, Murtough S, Chikh A, Picard HLD, Wang J, Pink R, Risk JM, Fitzgerald RC, Pennington DJ and Kelsell DP (2019). 454 iRhom2-mediated immune dysregulation: Impact on the skin and oesophagus. Elsevier  Journal of Investigative Dermatology  vol. 139, (5) 10.1016/j.jid.2019.03.530

van den Akker PC, Bolling MC, Pasmooij AMG, Kelsell DP and Uitto J (2019). Marcel F. Jonkman, MD, PhD (1957–2019). Elsevier  Journal of Investigative Dermatology  vol. 139, (5) 982-983. 10.1016/j.jid.2019.02.017

Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ and Kelsell DP (2019). DSP 突变与致心律失常性心肌病. Oxford University Press (Oup)  British Journal of Dermatology  vol. 180, (5) e169-e169. 10.1111/bjd.17808

Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ and Kelsell DP (2019). DSP mutations and arrhythmogenic cardiomyopathy. Oxford University Press (Oup)  British Journal of Dermatology  vol. 180, (5) e157-e157. 10.1111/bjd.17796

Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ and Kelsell DP (2019). Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. Oxford University Press (Oup)  British Journal of Dermatology  vol. 180, (5) 1114-1122. 10.1111/bjd.17388

Castelletti S, Maruthappu T, Posafalvi A, Syrris P, O'Toole EA, Green KJ, Tinker A, McKenna WJ and Kelsell DP (2018). P5709Hair and cutaneous phenotypes linked to Arrhythmogenic Cardiomyopathy caused by Desmoplakin haploinsufficiency: an additional disease marker. Oxford University Press (Oup)  European Heart Journal  vol. 39, (suppl_1) 10.1093/eurheartj/ehy566.p5709

KELSELL DP, O'TOOLE E, PIGORS M, SCOTT CA, Tabarra N and VAN HEEL DA (2018). Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes. Elsevier  Journal of Investigative Dermatology  10.1016/j.jid.2018.05.013

Rahman MM, Hazan A, Selway JL, Herath DS, Harwood CA, Pirzado MS, Atkar R, Kelsell DP, Linton KJ, Philpott MP and Neill GW (2018). A novel mechanism for activation of GLI1 by nuclear SMO that escapes anti-SMO inhibitors. American Association For Cancer Research (Aacr)  Cancer Research  vol. 78, (10) 10.1158/0008-5472.can-17-2897

Chikh A, Arcidiacono P, Webb C, Brooke M, Zhou H and Kelsell D (2018). 784 The p63 - iRHOM2 signalling axis in the keratinocyte stress response. Elsevier  Journal of Investigative Dermatology  vol. 138, (5) 10.1016/j.jid.2018.03.794

Arcidiacono P, Webb CM, Brooke MA, Zhou H, Delaney PJ, Ng K-E, Blaydon DC, Tinker A, Kelsell DP and Chikh A (2018). p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response. Springer Nature  Nature Communications  vol. 9, (1) 10.1038/s41467-018-03470-y

McDonald BS, Pigors M, Kelsell DP, O'Toole EA, Burkitt‐Wright E, Kerr B and Batta K (2018). Noonan syndrome with multiple lentigines and associated craniosynostosis. Oxford University Press (Oup)  Clinical and Experimental Dermatology  vol. 43, (3) 357-359. 10.1111/ced.13329

Puzzi L, Borin D, Martinelli V, Mestroni L, Kelsell DP and Sbaizero O (2017). Cellular biomechanics impairment in keratinocytes is associated with a C-terminal truncated desmoplakin: An atomic force microscopy investigation. Elsevier  Micron  vol. 106, 27-33. 10.1016/j.micron.2017.12.005

Russell MA, Pigors M, Houssen ME, Manson A, Kelsell D, Longhurst H and Morgan NG (2017). A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). Elsevier  Clinical Immunology  vol. 187, 132-136. 10.1016/j.clim.2017.11.007

Maruthappu T, McGinty LA, Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM, Simpson MA, O’Toole EA and Kelsell DP (2017). Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair. Elsevier  Journal of Investigative Dermatology  vol. 138, (4) 984-987. 10.1016/j.jid.2017.10.031

Ip SCI, Cottle DL, Jones LK, Weir JM, Kelsell DP, O'Toole EA, Meikle PJ and Smyth IM (2017). A profile of lipid dysregulation in harlequin ichthyosis. Br J Dermatol  vol. 177, (5) e217-e219. 10.1111/bjd.15642

Picard HLD, Blaydon D and Kelsell DP (2017). 086 Evidence for a palmoplantar-specific role for microtubules. Elsevier  Journal of Investigative Dermatology  vol. 137, (10) 10.1016/j.jid.2017.07.396

Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fernández-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M and McGrath JA (2017). Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. Elsevier  Journal of Investigative Dermatology  vol. 137, (11) 2344-2353. 10.1016/j.jid.2017.06.028

Maruthappu T, Chikh A, Fell B, Delaney PJ, Brooke MA, Levet C, Moncada-Pazos A, Ishida-Yamamoto A, Blaydon D, Waseem A, Leigh IM, Freeman M and KELSELL DP (2017). Rhomboid family member 2 Regulates cytoskeletal stress associated Keratin 16. Nature Publishing Group  Nature Communications  vol. 8, 14174-14174. 10.1038/ncomms14174

Wolf C, Qian Y, Brooke MA, Kelsell DP and Franzke C-W (2017). Erratum: Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways. Springer Nature  Scientific Reports  vol. 7, (1) 10.1038/srep41343

WOLF C, QIAN Y, BROOKE MA, KELSELL DP and FRANZKE CW (2016). ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C γ1 and protein kinase C pathways. Nature Publishing Group: Open Access Journals - Option C  Scientific Reports  vol. 6, 10.1038/srep39780

Posafalvi A, Maruthappu T, Castelletti S, Syrris P, O’Toole E, McKenna WJ and Kelsell DP (2016). 183 Clinical and genetic studies reveal cutaneous phenotypes linked to desmoplakin haploinsufficiency in arrhythmogenic cardiomyopathy. Elsevier  Journal of Investigative Dermatology  vol. 136, (9) 10.1016/j.jid.2016.06.201

Pigors M, Sarig O, Heinz L, Plagnol V, Fischer F, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP and Blaydon DC (2016). Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions. Elsevier (Cell Press): 6 Month Embargo  American Journal of Human Genetics  10.1016/j.ajhg.2016.06.004

Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I and Vulliamy T (2016). DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. Elsevier  American Journal of Human Genetics  vol. 99, (1) 115-124. 10.1016/j.ajhg.2016.05.002

Salas-Alanís JC, Scott CA, Fajardo-Ramírez OR, Duran C, Moreno-Treviño MG and Kelsell DP (2016). New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report. Mol Syndromol  vol. 7, (3) 160-163. 10.1159/000446619

Harris AG, Choy C, Pigors M, Kelsell DP and Murrell DF (2016). Cover image: Unpeeling the layers of harlequin ichthyosis. Br J Dermatol  vol. 174, (5) 1160-1161. 10.1111/bjd.14469

Boente MD, Nanda A, Baselaga PA, Kelsell DP, McGrath JA and South AP (2016). Cardiomyopathy diagnosed in the eldest child harboring p.S24X mutation in JUP. The British Journal of Dermatology  10.1111/bjd.14617

Sawada G, Niida A, Uchi R, Hirata H, Shimamura T, Suzuki Y, Shiraishi Y, Chiba K, Imoto S, Takahashi Y, Iwaya T, Sudo T, Hayashi T, Takai H, Kawasaki Y, Matsukawa T, Eguchi H, Sugimachi K, Tanaka F, Suzuki H, Yamamoto K, Ishii H, Shimizu M, Yamazaki H, Yamazaki M, Tachimori Y, Kajiyama Y, Natsugoe S, Fujita H and Mafune K (2016). Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population. Gastroenterology  vol. 150, (5) 1171-1182. 10.1053/j.gastro.2016.01.035

Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA and Batta K (2015). Acral peeling skin syndrome associated with a novel CSTA gene mutation. Oxford University Press (Oup)  Clinical and Experimental Dermatology  vol. 41, (4) 394-398. 10.1111/ced.12777

Maney SK, McIlwain DR, Polz R, Pandyra AA, Sundaram B, Wolff D, Ohishi K, Maretzky T, Brooke MA, Evers A, Vasudevan AAJ, Aghaeepour N, Scheller J, Münk C, Häussinger D, Mak TW, Nolan GP, Kelsell DP, Blobel CP, Lang KS and Lang PA (2015). Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17. American Association For The Advancement of Science (Aaas)  Science Signaling  vol. 8, (401) 10.1126/scisignal.aac5356

Ellis A, Risk JM, Maruthappu T and Kelsell DP (2015). Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms. Springer Nature  Orphanet Journal of Rare Diseases  vol. 10, (1) 10.1186/s13023-015-0346-2

Getsios S, Kelsell DP and Forge A (2015). Junctions in human health and inherited disease. Cell and Tissue Research  vol. 360, (3) 435-438. 10.1007/s00441-015-2171-2

Abrams DJ, Kirkby C, Page SP, Earley MJ, Nitiou D, Kelsell DP and Schilling RJ (2015). Evolution of Electrocardiographic and Structural Features Over 3 Decades in Arrhythmogenic Cardiomyopathy. Wolters Kluwer  Circulation  vol. 131, (25) 2233-2235. 10.1161/circulationaha.115.014371

Bland PJ, Chronnell C, Plagnol V, Kayserili H and Kelsell DP (2015). A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B. Oxford University Press (Oup)  British Journal of Dermatology  vol. 173, (1) 285-287. 10.1111/bjd.13627

Getsios S, Kelsell DP and Forge A (2015). Junctions in human health and inherited disease. Springer Nature  Cell and Tissue Research  vol. 360, (3) 435-438. 10.1007/s00441-015-2171-2

Gupta A, Nitoiu D, Brennan-Crispi D, Addya S, Riobo NA, Kelsell DP and Mahoney MG (2015). Cell Cycle- and Cancer-Associated Gene Networks Activated by Dsg2: Evidence of Cystatin A Deregulation and a Potential Role in Cell-Cell Adhesion. Public Library of Science (Plos)  Plos One  vol. 10, (3) 10.1371/journal.pone.0120091

AlFawaz S, Plagnol V, Wong FSL and Kelsell DP (2015). A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis. Elsevier  Archives of Oral Biology  vol. 60, (7) 982-988. 10.1016/j.archoralbio.2015.02.023

Notari M, Hu Y, Sutendra G, Dedeić Z, Lu M, Dupays L, Yavari A, Carr CA, Zhong S, Opel A, Tinker A, Clarke K, Watkins H, Ferguson DJP, Kelsell DP, de Noronha S, Sheppard MN, Hollinshead M, Mohun TJ and Lu X (2015). iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death. Proceedings of The National Academy of Sciences  Proceedings of The National Academy of Sciences of The United States of America  vol. 112, (9) e973-e981. 10.1073/pnas.1408111112

Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJD, 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 and Yang Y (2015). Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads. Elsevier  American Journal of Human Genetics  vol. 96, (3) 440-447. 10.1016/j.ajhg.2014.12.026

Aggarwal S, Kar A, Bland P, Kelsell D and Dalal A (2015). Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis. Gene  vol. 556, (2) 254-256. 10.1016/j.gene.2014.12.002

Salas-Alanis JC, Wozniak E, Mein CA, Mckinster CCD, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML, Choate KA and Saldaña HAB (2015). Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia. Xmlink  Annals of Dermatology  vol. 27, (4) 474-477. 10.5021/ad.2015.27.4.474

Aggarwal S, Kar A, Bland P, Kelsell D and Dalal A (2014). Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis. Elsevier  Gene  vol. 556, (2) 254-256. 10.1016/j.gene.2014.12.002

Blaydon DC and Kelsell DP (2014). Defective channels lead to an impaired skin barrier. J Cell Sci  vol. 127, (Pt 20) 4343-4350. 10.1242/jcs.154633

Brooke MA, O'Toole EA and Kelsell DP (2014). Exoming into rare skin disease: EGFR deficiency. J Invest Dermatol  vol. 134, (10) 2486-2488. 10.1038/jid.2014.228

Maruthappu T, Scott CA and Kelsell DP (2014). Discovery in genetic skin disease: the impact of high throughput genetic technologies. Genes (Basel)  vol. 5, (3) 615-634. 10.3390/genes5030615

Brooke MA, Etheridge SL, Kaplan N, Simpson C, O'Toole EA, Ishida-Yamamoto A, Marches O, Getsios S and Kelsell DP (2014). iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function. Hum Mol Genet  vol. 23, (15) 4064-4076. 10.1093/hmg/ddu120

Nitoiu D, Etheridge SL and Kelsell DP (2014). Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes. Cell Commun Adhes  vol. 21, (3) 129-140. 10.3109/15419061.2014.908854

Brooke MA, Longhurst HJ, Plagnol V, Kirkby NS, Mitchell JA, Rüschendorf F, Warner TD, Kelsell DP and MacDonald TT (2014). Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut  vol. 63, (1) 96-104. 10.1136/gutjnl-2012-303581

Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJD, Wilson NJ, McLean WHI, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A and Kelsell DP (2013). Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet  vol. 93, (2) 330-335. 10.1016/j.ajhg.2013.06.008

Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J and Kelsell DP (2013). Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. Arch Oral Biol  vol. 58, (5) 462-466. 10.1016/j.archoralbio.2012.12.008

Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J and Kelsell DP (2013). Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. Archives of Oral Biology  vol. 58, (5) 462-466. 10.1016/j.archoralbio.2012.12.008

Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D, Gárdos L, Császár A, Tihanyi M, Rustin M, Burrows NP, Bennett C, Harper JI, Conrad B, Verma IC, Taibjee SM, Moss C, O'Toole EA and Kelsell DP (2013). Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. J Invest Dermatol  vol. 133, (2) 573-576. 10.1038/jid.2012.332

Curtis MA and Kelsell DP (2013). Current insights into protease dynamics in human epithelial disease and barrier function. Cell Tissue Res  vol. 351, (2) 213-215. 10.1007/s00441-013-1559-0

Etheridge SL, Brooke MA, Kelsell DP and Blaydon DC (2013). Rhomboid proteins: A role in keratinocyte proliferation and cancer. Cell and Tissue Research  vol. 351, (2) 301-307. 10.1007/s00441-012-1542-1

Curtis MA and Kelsell DP (2013). Current insights into protease dynamics in human epithelial disease and barrier function. Cell and Tissue Research  vol. 351, (2) 213-215. 10.1007/s00441-013-1559-0

Simpson C, Kelsell DP and Marchès O (2013). Connexin 26 facilitates gastrointestinal bacterial infection in vitro. Cell Tissue Res  vol. 351, (1) 107-116. 10.1007/s00441-012-1502-9

Simpson C, Kelsell DP and Marchès O (2013). Connexin 26 facilitates gastrointestinal bacterial infection in vitro. Cell and Tissue Research  vol. 351, (1) 107-116. 10.1007/s00441-012-1502-9

Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V and Kelsell DP (2013). A missense mutation in the MBTPS2 gene underlies the x-linked form of olmsted syndrome. Journal of Investigative Dermatology  vol. 133, (2) 571-573. 10.1038/jid.2012.289

Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D, Gárdos L, Császár A, Tihanyi M, Rustin M, Burrows NP, Bennett C, Harper JI, Conrad B, Verma IC, Taibjee SM, Moss C, O'Toole EA and Kelsell DP (2013). Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. Journal of Investigative Dermatology  vol. 133, (2) 573-576. 10.1038/jid.2012.332

Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP, Leigh IM and Proby CM (2012). Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene. Int J Cancer  vol. 131, (3) E216-E226. 10.1002/ijc.27333

Scott CA, Tattersall D, O'Toole EA and Kelsell DP (2012). Connexins in epidermal homeostasis and skin disease. Biochimica Et Biophysica Acta - Biomembranes  vol. 1818, (8) 1952-1961. 10.1016/j.bbamem.2011.09.004

Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP, Leigh IM and Proby CM (2012). Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene. International Journal of Cancer  vol. 131, (3) 10.1002/ijc.27333

Cabral RM, Tattersall D, Patel V, McPhail GD, Hatzimasoura E, Abrams DJ, South AP and Kelsell DP (2012). The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes. J Cell Sci  vol. 125, (Pt 12) 2853-2861. 10.1242/jcs.084152

Blaydon DC, Etheridge SL, Risk JM, Hennies H-C, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP and Kelsell DP (2012). RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet  vol. 90, (2) 340-346. 10.1016/j.ajhg.2011.12.008

MacDonald TT, Harper JI and Kelsell DP (2012). The authors reply. New England Journal of Medicine  vol. 366, (2) 10.1016/S2215-0366(16)00018-3

Brooke MA, Nitoiu D and Kelsell DP (2012). Cell-cell connectivity: desmosomes and disease. J Pathol  vol. 226, (2) 158-171. 10.1002/path.3027

MacDonald TT, Harper JI and Kelsell DP (2012). Inflammatory Bowel Disease and ADAM17 Deletion REPLY. New England Journal of Medicine  vol. 366, (2) 190-190. 10.1056/NEJMc1113859

Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V and Kelsell DP (2012). A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome. Journal of Investigative Dermatology  10.1038/jid.2012.289

Etheridge SL, Brooke MA, Kelsell DP and Blaydon DC (2012). Rhomboid proteins: a role in keratinocyte proliferation and cancer. Cell and Tissue Research  1-7. 10.1007/s00441-012-1542-1

Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P and Stupka E (2012). Characterisation and validation of insertions and deletions in 173 patient exomes. Plos One  vol. 7, (12) 10.1371/journal.pone.0051292

Blaydon DC, Biancheri P, Di W-L, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI and Kelsell DP (2011). Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med  vol. 365, (16) 1502-1508. 10.1056/NEJMoa1100721

Blaydon DC, Nitoiu D, Eckl K-M, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC and Kelsell DP (2011). Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet  vol. 89, (4) 564-571. 10.1016/j.ajhg.2011.09.001

Matos TD, Simões-Teixeira H, Caria H, Cascão R, Rosa H, O'Neill A, Dias Ó, Andrea ME, Kelsell DP and Fialho G (2011). Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association. Hindawi  Genetics Research International  vol. 2011, 10.4061/2011/827469

Pyati UJ, Gjini E, Carbonneau S, Lee JS, Guo F, Jette CA, Kelsell DP and Look AT (2011). p63 Mediates an Apoptotic Response to Pharmacological and Disease-Related ER Stress in the Developing Epidermis. Dev Cell  vol. 21, (3) 492-505. 10.1016/j.devcel.2011.07.012

Scott CA and Kelsell DP (2011). Key functions for gap junctions in skin and hearing. Biochem J  vol. 438, (2) 245-254. 10.1042/BJ20110278

Kelsell DP and Byrne C (2011). SNPing at the Epidermal Barrier. J Invest Dermatol  vol. 131, (8) 1593-1595. 10.1038/jid.2011.92

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D and O'Toole E (2011). Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol  vol. 147, (6) 681-686. 10.1001/archdermatol.2011.9

O'Toole EA and Kelsell DP (2011). Collodion Baby. Harper\'s Textbook of Pediatric Dermatology  Wiley  10.1002/9781444345384.ch12

O'Toole EA and Kelsell DP (2011). Harlequin Ichthyosis. Harper\'s Textbook of Pediatric Dermatology  Wiley  10.1002/9781444345384.ch13

Scott CA, Tattersall D, O'Toole EA and Kelsell DP (2011). Connexins in epidermal homeostasis and skin disease. Biochimica Et Biophysica Acta - Biomembranes  10.1016/j.bbamem.2011.09.004

Scott CA, O'Toole EA, Mohungoo MJ, Messenger A and Kelsell DP (2011). Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis. Clin Exp Dermatol  vol. 36, (1) 88-90. 10.1111/j.1365-2230.2010.03945.x

Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP and South AP (2010). Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cell Tissue Res  vol. 341, (1) 121-129. 10.1007/s00441-010-0989-1

Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJC, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente MDC, Kelsell DP, McGrath JA and South AP (2010). Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol  vol. 130, (6) 1543-1550. 10.1038/jid.2010.7

Leigh IM and Kelsell DP (2010). Inherited skin disease. Oxford Textbook of Medicine  Oxford University Press (Oup)  10.1093/med/9780199204854.003.2303

Rajpopat S, Kelsell D and O'Toole E (2010). Harlequin ichthyosis: a review of 50 cases and update of ABCA12 mutation analysis. Bmj  Archives of Disease in Childhood  vol. 95, (Suppl 1) a14-a14. 10.1136/adc.2010.186338.31

Tattersall D, Scott CA, Gray C, Zicha D and Kelsell DP (2009). EKV mutant connexin 31 associated cell death is mediated by ER stress. Hum Mol Genet  vol. 18, (24) 4734-4745. 10.1093/hmg/ddp436

Sinclair C, O'Toole EA, Paige D, El Bashir H, Robinson J, Dobson R, Lench N, Stevens HP, Hitman GA, Booy R, Mein CA and Kelsell DP (2009). Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. Br J Dermatol  vol. 160, (5) 1113-1115. 10.1111/j.1365-2133.2009.09050.x

Thomas AC, Tattersall D, Norgett EE, O'Toole EA and Kelsell DP (2009). Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Am J Pathol  vol. 174, (3) 970-978. 10.2353/ajpath.2009.080860

Aasen T and Kelsell DP (2009). Connexins in Skin Biology. Connexins  Springer Nature  10.1007/978-1-59745-489-6_14

Court DS and Kelsell DP (2009). 5 Human genetics. Medical Sciences  Elsevier  10.1016/b978-0-7020-2679-9.00005-4

Ellis PE, Cano SD, Fear M, Kelsell DP, Ghali L, Crow JC, Perrett CW and MacLean AB (2008). Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breast. Mod Pathol  vol. 21, (10) 1192-1199. 10.1038/modpathol.2008.50

Matos TD, Caria H, Simoes-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell DP and Fialho G (2008). A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. Hearing Res  vol. 240, (1-2) 87-92. 10.1016/j.heares.2008.03.004

Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam J-S, Yoon JK, Kelsell DP and Christiano AM (2008). Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. J Invest Dermatol  vol. 128, (4) 867-870. 10.1038/sj.jid.5701078

Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA and Kelsell DP (2008). Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. Br J Dermatol  vol. 158, (3) 611-613. 10.1111/j.1365-2133.2007.08277.x

Matos TD, Caria H, Simões-Teixeira H, Aasen T, Nickel R, Jagger DJ, O'Neill A, Kelsell DP and Fialho G (2007). A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. J Med Genet  vol. 44, (11) 721-725. 10.1136/jmg.2007.050682

Man YKS, Trolove C, Tattersall D, Thomas AC, Papakonstantinopoulou A, Patel D, Scott C, Chong J, Jagger DJ, O'Toole EA, Navsaria H, Curtis MA and Kelsell DP (2007). A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol  vol. 218, (1-3) 29-37. 10.1007/s00232-007-9025-0

Purdie KJ, Lambert SR, Teh M-T, Chaplin T, Molloy G, Raghavan M, Kelsell DP, Leigh IM, Harwood CA, Proby CM and Young BD (2007). Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Genes Chromosomes Cancer  vol. 46, (7) 661-669. 10.1002/gcc.20447

Kelsell DP, HARWOOD CA, Leigh IM, Proby CM, Purdie KJ, Teh MT, Lambert SR, Young BD, Raghavan M, Molloy G and Chaplin T (2007). Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Genes Chromosomes Cancer  vol. 46, 661-669.

Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SYK, Bodemer C, Prins C, Antille C, Saurat J-H, Atherton D, Harper JI, Kelsell DP and Hovnanian A (2007). Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol  vol. 156, (5) 1015-1019. 10.1111/j.1365-2133.2007.07806.x

Blaydon DC, Philpott MP and Kelsell DP (2007). R-spondins in cutaneous biology: Nails and cancer. Cell Cycle  vol. 6, (8) 895-897. 10.4161/cc.6.8.4136

Blaydon DC, Philpott MP and Kelsell DP (2007). R-spondins in cutaneous biology: nails and cancer. Cell Cycle  vol. 6, (8) 895-897. 10.4161/cc.6.8.4136

Kelsell DP, Blaydon D and Mein CA (2007). Identifying Mutations in Single Gene Disorders. 10.1002/9780470059180.ch7

Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP (2007). Erratum: Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (Journal of Cell Science vol. 120 (330-339)). Journal of Cell Science  vol. 120, (5) 10.1242/jcs.03421

Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP (2007). Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (vol 120, pg 330, 2007). J Cell Sci  vol. 120, (5) 917-917. 10.1242/jcs.03329

Unsworth HC, Aasen T, McElwaine S and Kelsell DP (2007). Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth. Hum Mol Genet  vol. 16, (2) 165-172. 10.1093/hmg/ddl452

Teh M-T, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP (2007). Role for WNT16B in human epidermal keratinocyte proliferation and differentiation. J Cell Sci  vol. 120, (Pt 2) 330-339. 10.1242/jcs.03329

Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA and Kelsell DP (2006). ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol  vol. 126, (11) 2408-2413. 10.1038/sj.jid.5700455

Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh M-T, Rüschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM and Kelsell DP (2006). The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet  vol. 38, (11) 1245-1247. 10.1038/ng1883

Rajpar SF, Cullup T, Kelsell DP and Moss C (2006). A novel ABCA12 mutation underlying a case of Harlequin ichthyosis. Br J Dermatol  vol. 155, (1) 204-206. 10.1111/j.1365-2133.2006.07291.x

Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM and Kelsell DP (2006). Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol  vol. 126, (7) 1651-1654. 10.1038/sj.jid.5700291

(2006). Séance conjointe entre la Société Française de Dermatologie Pédiatrique, la Société Française de Dermatologie et la British Society of Paediatric Dermatology. Elsevier  Annales De Dermatologie Et De VéNéRéOlogie  vol. 133, (6-7) 10.1016/s0151-9638(06)70980-2

Mak RKH, Paige D, Leigh IM, Kelsell DP and O’toole EA (2006). Two siblings with harlequin ichthyosis, clinical and molecular findings. Elsevier  Annales De Dermatologie Et De VéNéRéOlogie  vol. 133, (6-7) 10.1016/s0151-9638(06)77585-8

Abrams CK, Freidin MM, Verselis VK, Bargiello TA, Kelsell DP, Richard G, Bennett MVL and Bukauskas FF (2006). Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness. Proc Natl Acad Sci U S A  vol. 103, (13) 5213-5218. 10.1073/pnas.0511091103

Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP and Wollnik B (2006). Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet  vol. 43, (2) 10.1136/jmg.2005.032904

Common JEA, O'Toole EA, Leigh IM, Thomas A, Griffiths WAD, Venning V, Grabczynska S, Peris Z, Kansky A and Kelsell DP (2005). Clinical and genetic heterogeneity of erythrokeratoderma variabilis. J Invest Dermatol  vol. 125, (5) 920-927. 10.1111/j.0022-202X.2005.23919.x

Common JEA, Bitner-Glindzicz M, O'Toole EA, Barnes MR, Jenkins L, Forge A and Kelsell DP (2005). Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830). Clin Exp Dermatol  vol. 30, (6) 688-693. 10.1111/j.1365-2230.2005.01878.x

Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM, Tomlinson IPM and Weaver T (2005). Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. J Mol Diagn  vol. 7, (4) 437-443. 10.1016/S1525-1578(10)60574-0

Teh M-T, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M, Harwood CA, Proby CM, Philpott MP, Young BD and Kelsell DP (2005). Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. Cancer Res  vol. 65, (19) 8597-8603. 10.1158/0008-5472.CAN-05-0842

Philpott MP, KELSELL DP, Harwood C, Proby C, Blaydon D, Teh M-T, Foot NJ, Skoulakis S, Chaplin T and Young BD (2005). Genome-wide SNP Microarray Mapping in Basal Cell Carcinomas Unveils Uniparental Disomy as a Key Somatic Event. Cancer Research  vol. 65, 8597-8603.

Kelsell DP, Norgett EE, Unsworth H, Teh M-T, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AEM, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RAJ and O'Toole EA (2005). Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet  vol. 76, (5) 794-803. 10.1086/429844

Di W-L, Gu Y, Common JEA, Aasen T, O'Toole EA, Kelsell DP and Zicha D (2005). Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. J Cell Sci  vol. 118, (Pt 7) 1505-1514. 10.1242/jcs.01733

Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S and Tomlinson IPM (2005). Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol  vol. 141, (2) 199-206. 10.1001/archderm.141.2.199

Kelsell DP (2004). Connexin mutations in human disease. Exp Dermatol  vol. 13, (10) 661-662. 10.1111/j.0906-6705.2004.0250f.x

Gu Y, Di WL, Kelsell DP and Zicha D (2004). Quantitative fluorescence resonance energy transfer (FRET) measurement with acceptor photobleaching and spectral unmixing. J Microsc  vol. 215, (Pt 2) 162-173. 10.1111/j.0022-2720.2004.01365.x

Common JEA, Di W-L, Davies D and Kelsell DP (2004). Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival. J Med Genet  vol. 41, (7) 573-575. 10.1136/jmg.2003.017632

Norgett EE, Wolf F, Balme B, Leigh IM, Perrot H, Kelsell DP and Haftek M (2004). Hereditary 'white nails': a genetic and structural study. Br J Dermatol  vol. 151, (1) 65-72. 10.1111/j.1365-2133.2004.05994.x

Brown VL, Harwood CA, Crook T, Cronin JG, Kelsell DP and Proby CM (2004). p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma. J Invest Dermatol  vol. 122, (5) 1284-1292. 10.1111/j.0022-202X.2004.22501.x

Skerrett IM, Di W-L, Kasperek EM, Kelsell DP and Nicholson BJ (2004). Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T. Faseb J  vol. 18, (7) 860-862. 10.1096/fj.03-0763fje

Langan JE, Cole CG, Huckle EJ, Byrne S, McRonald FE, Rowbottom L, Ellis A, Shaw JM, Leigh IM, Kelsell DP, Dunham I, Field JK and Risk JM (2004). Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene. Hum Genet  vol. 114, (6) 534-540. 10.1007/s00439-004-1100-3

Skerrett IM, Di WL, Kasperek EM, Kelsell DP and Nicholson BJ (2004). Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T. The Faseb Journal : Official Publication of The Federation of American Societies For Experimental Biology  vol. 18, (7) 860-862. 10.1096/fj.03-0763fje

Alam NA, Gorman P, Jaeger EEM, Kelsell D, Leigh IM, Ratnavel R, Murdoch ME, Houlston RS, Aaltonen LA, Roylance RR and Tomlinson IPM (2003). Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. Cancer Genet Cytogenet  vol. 147, (2) 121-127. 10.1016/s0165-4608(03)00196-1

Hatsell SJ, Stevens H, Jackson AP, Kelsell DP and Zvulunov A (2003). An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. Br J Dermatol  vol. 149, (1) 174-180. 10.1046/j.1365-2133.2003.05386.x

Common J, Di W-L, Davies D, Galvin H, Leigh I, O'Toole E and Kelsell D (2003). Cellular Mechanisms of Mutant Connexins in Skin Disease and Hearing Loss. Taylor & Francis  Cell Communication & Adhesion  vol. 10, (4) 347-351. 10.1080/714040451

Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts EDA, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A and Mann RJ (2003). Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet  vol. 12, (11) 1241-1252. 10.1093/hmg/ddg148

Edmunds SC, Cree IA, Dí Nícolantonío F, Hungerford JL, Hurren JS and Kelsell DP (2003). Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas. Br J Cancer  vol. 88, (9) 1403-1405. 10.1038/sj.bjc.6600919

Huen AC, Park JK, Godsel LM, Chen X, Bannon LJ, Amargo EV, Hudson TY, Mongui AK, Leigh IM, Kelsell DP, Gumbiner BM and Green KG (2002). Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength. The Rockefeller University Press  Journal of Cell Biology.  vol. 159, (6) 1005-1017. 10.1083/jcb.200206098

Edmunds SC and Kelsell DP (2002). Double jeopardy: Ras and CDK4 co-expression in skin cancer. Trends Mol Med  vol. 8, (12) 10.1016/s1471-4914(02)02446-2

Common JEA, Becker D, Di W-L, Leigh IM, O'Toole EA and Kelsell DP (2002). Functional studies of human skin disease- and deafness-associated connexin 30 mutations. Biochem Biophys Res Commun  vol. 298, (5) 651-656. 10.1016/s0006-291x(02)02517-2

Risk JM, Evans KE, Jones J, Langan JE, Rowbottom L, McRonald FE, Mills HS, Ellis A, Shaw JM, Leigh IM, Kelsell DP and Field JK (2002). Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. Oncogene  vol. 21, (41) 6395-6402. 10.1038/sj.onc.1205768

Edmunds SC, Kelsell DP, Hungerford JL and Cree IA (2002). Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma. Invest Ophthalmol Vis Sci  vol. 43, (9) 2845-2851.

Brown VL, Harwood CA, Crook T, Kelsell DP and Proby CM (2002). Mechanisms of inactivation of p16(INK4a) & p14(ARF) in cutaneous squamous cell carcinoma. J Invest Dermatol  vol. 119, (3) 752-752.

Di WL, Monypenny J, Common JEA, Kennedy CTC, Holland KA, Rugg EL, Leigh IM, Zicha D and Kelsell DP (2002). Defective trafficking and cell death are characteristic of skin disease-associated connexin 31 mutations in keratinocytes. J Invest Dermatol  vol. 119, (3) 745-745.

Di W-L, Monypenny J, Common JEA, Kennedy CTC, Holland KA, Leigh IM, Rugg EL, Zicha D and Kelsell DP (2002). Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum Mol Genet  vol. 11, (17) 2005-2014. 10.1093/hmg/11.17.2005

KELSELL DP, Leigh IM, Rugg EL, Holland KA, Monypenny J, Di WL, Zicha DI, Kennedy CTC and Common JEA (2002). Defective trafficking and cell death is characteristic of skin disease-associated Connexin 31 mutations. Human Molecular Genetics.  vol. 11, (17) 2005-2014.

Brown VL, Proby CM, Barnes DM and Kelsell DP (2002). Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumours. Br J Cancer  vol. 87, (2) 208-211. 10.1038/sj.bjc.6600418

Rugg EL, Common JEA, Wilgoss A, Stevens HP, Buchan J, Leigh IM and Kelsell DP (2002). Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. Br J Dermatol  vol. 146, (6) 952-957. 10.1046/j.1365-2133.2002.04764.x

Gottfried I, Landau M, Glaser F, Di W-L, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP and Avraham KB (2002). A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet  vol. 11, (11) 1311-1316. 10.1093/hmg/11.11.1311

Kelsell DP, Di W, Common JEA, Holland KA, Rugg EL and Leigh IM (2002). Functional analyses of connexin mutations in keratinocytes (vol 117, pg 775, 2001). J Invest Dermatol  vol. 118, (4) 741-741.

(2002). Errata. Elsevier  Journal of Investigative Dermatology  vol. 118, (4) 741-742. 10.1046/j.1523-1747.2002.01748.x

Tomlinson IPM, Alam NA, Rowan AJ, Barclay E, Jaeger EEM, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R and Launonen V (2002). Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet  vol. 30, (4) 406-410. 10.1038/ng849

KELSELL DP, Avraham KB, Ophir J, Glaser F, Gottfried I, Mevorah B, Ben-Tal N, Landau M and Di WL (2002). A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective tracking of the connexin 31 protein. Human Molecular Genetics  vol. 11, (11) 1311-1316.

Norgett EE and Kelsell DP (2002). SPINK5: both rare and common skin disease. Trends Mol Med  vol. 8, (1) 10.1016/s1471-4914(01)02228-6

Fletcher ST, Fentem JH, Basketter DA, Kelsell DP, Philpott M and Baker VA (2001). Microarray and proteomic analysis of early gene regulation following exposure to skin irritants. Toxicology  vol. 168, (1) 101-102.

Di WL, Rugg EL, Leigh IM and Kelsell DP (2001). Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31. J Invest Dermatol  vol. 117, (4) 958-964. 10.1046/j.0022-202x.2001.01468.x

Neill GW and Kelsell DP (2001). Spotting prostate cancer. Trends Mol Med  vol. 7, (10) 10.1016/s1471-4914(01)02160-8

Rugg EL, Wilgoss A, Stevens HP, Leigh IM and Kelsell DP (2001). The identification of mutations in keratin 9 using denaturing high performance liquid chromatography. J Invest Dermatol  vol. 117, (3) 779-779.

Kelsell DP, Di W, Common JEA, Rugg EL and Leigh IM (2001). Functional analyses of connexin mutations in keratinocytes. J Invest Dermatol  vol. 117, (3) 775-775.

O'Toole EA, Di WL, Common J, Leigh IM and Kelsell DP (2001). Heterogeneity of genetic mutations in erythrokeratodermas. J Invest Dermatol  vol. 117, (3) 797-797.

Fletcher S, Baker V, Fentem J, Basketter D and Kelsell D (2001). Microarray analysis of gene expression following exposure to skin irritants. J Invest Dermatol  vol. 117, (2) 528-528.

Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B and Bitner-Glindzicz M (2001). Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet  vol. 38, (8) 530-533. 10.1136/jmg.38.8.530

Griffith AJ (2001). Genetic analysis of the connexin-26 M34T variant. Bmj  Journal of Medical Genetics  vol. 38, (7) 10.1136/jmg.38.7.e24

Fear MW and Kelsell DP (2001). The two-hybrid cancer suicide pill. Elsevier  Trends in Molecular Medicine  vol. 7, (5) 10.1016/s1471-4914(01)01987-6

Alam NA, Bevan S, Churchman M, Barclay E, Barker K, Jaeger EE, Nelson HM, Healy E, Pembroke AC, Friedmann PS, Dalziel K, Calonje E, Anderson J, August PJ, Davies MG, Felix R, Munro CS, Murdoch M, Rendall J, Kennedy S, Leigh IM, Kelsell DP, Tomlinson IP and Houlston RS (2001). Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet  vol. 68, (5) 1264-1269. 10.1086/320124

Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C and Kelsell DP (2001). Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. J Invest Dermatol  vol. 116, (4) 606-609. 10.1046/j.1523-1747.2001.13041234.x

Kelsell DP, Di WL and Houseman MJ (2001). Connexin mutations in skin disease and hearing loss. Am J Hum Genet  vol. 68, (3) 559-568. 10.1086/318803

Fear MW, Hatsell SJ, Leigh IM and Kelsell DP (2001). Whats new in genodermatoses? Keio J Med  vol. 50, (1) 35-38. 10.2302/kjm.50.35

Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK, Hennies HC, Küster W, Hughes AE, Arnemann J, Leigh IM, McGrath JA, Kelsell DP and Buxton RS (2001). Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet  vol. 9, (3) 197-203. 10.1038/sj.ejhg.5200605

Isaacs A, Davies K, Hunter A, Nolan P, Vizor L, Peters J, Gale D, Kelsell D, Latham I, Chase J, Fisher E, Bouzyk M, Potter A, Masih M, Walsh F, Sims M, Doncaster K, Parsons C, Martin J, Brown S, Rastan S, Spurr N and Gray I (2001). Identification Of Two New Pmp22 Mouse Mutants Using Large‐Scale Mutagenesis And A Novel Rapid Mapping Strategy. Wiley  Journal of The Peripheral Nervous System  vol. 6, (1) 65-65. 10.1046/j.1529-8027.2001.01008-19.x

Di WL, Common JEA and Kelsell DP (2001). Connexin 26 expression and mutation analysis in epidermal disease. Cell Communication and Adhesion  vol. 8, (4-6) 415-418. 10.3109/15419060109080763

Kelsell DP, Dunlop J and Hodgins MB (2001). Human diseases: clues to cracking the connexin code? Trends Cell Biol  vol. 11, (1) 2-6. 10.1016/s0962-8924(00)01866-3

Kelsell D (2001). R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? Reply. Eur J Hum Genet  vol. 9, (1) 70-70. 10.1038/sj.ejhg.5200569

López-Bigas N, Rabionet R, Arbonés ML and Estivill X (2001). R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? Eur J Hum Genet  vol. 9, (1) 10.1038/sj.ejhg.5200569

Di WL, Common JE and Kelsell DP (2001). Connexin 26 expression and mutation analysis in epidermal disease. Cell Commun Adhes  vol. 8, (4-6) 415-418. 10.3109/15419060109080763

Davies D, KELSELL DP, Common JEA and Wei-Li D (2001). Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival. Journal of Medical Genetics.  vol. 41, 573-575.

Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF and Kelsell DP (2001). Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet  vol. 38, (1) 20-25. 10.1136/jmg.38.1.20

Kelsell DP, Norgett EE, Hatsell SJ, Common JEA, Cabezas JCR, Stevens HP, Carvajal-Huerta L and Leigh IM (2000). Recessive mutation in desmoplakin disrupts desmoplakin/intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. J Invest Dermatol  vol. 115, (6) 1170-1170.

Ishida-Yamamoto A, Kelsell D, Common J, Houseman MJ, Hashimoto M, Shibaki H, Asano K, Takahashi H, Hashimoto Y, Senshu T, Leigh IM and Iizuka H (2000). A case of erythrokeratoderma variabilis without mutations in connexin 31. Brit J Dermatol  vol. 143, (6) 1283-1287. 10.1046/j.1365-2133.2000.03902.x

Di WL, Common JEA and Kelsell DP (2000). Connexin 26 expression and mutation analysis in epidermal disease. Cell Adhesion and Communication  vol. 8, (4-6) 415-418.

Fear MW, Kelsell DP, Spurr NK and Barnes MR (2000). Wnt-16a, a Novel Wnt-16 Isoform, Which Shows Differential Expression in Adult Human Tissues. Elsevier  Biochemical and Biophysical Research Communications  vol. 278, (3) 814-820. 10.1006/bbrc.2000.3852

Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas J-CR, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP and Kelsell DP (2000). Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Oxford University Press (Oup)  Human Molecular Genetics  vol. 9, (18) 2761-2766. 10.1093/hmg/9.18.2761

Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA and Waksman G (2000). Mutations in GJB6 cause hidrotic ectodermal dysplasia. Springer Nature  Nature Genetics  vol. 26, (2) 142-144. 10.1038/79851

Kelsell DP (2000). Genetic basis of psoriasis. Elsevier  Trends in Molecular Medicine  vol. 6, (8) 10.1016/s1357-4310(00)01750-0

Isaacs AM, Davies KE, Hunter AJ, Nolan PM, Vizor L, Peters J, Gale DG, Kelsell DP, Latham ID, Chase JM, Fisher EM, Bouzyk MM, Potter A, Masih M, Walsh FS, Sims MA, Doncaster KE, Parsons CA, Martin J, Brown SD, Rastan S, Spurr NK and Gray IC (2000). Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy. Oxford University Press (Oup)  Human Molecular Genetics  vol. 9, (12) 1865-1871. 10.1093/hmg/9.12.1865

Hatsell SJ and Kelsell DP (2000). The diffuse palmoplantar keratodermas. Acta Dermatovenerologica Alpina, Panonica Et Adriatica  vol. 9, (2) 47-55.

Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS and Leigh IM (2000). Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Springer Nature  European Journal of Human Genetics  vol. 8, (6) 468-468. 10.1038/sj.ejhg.5200510

Kibar Z, Dubé M-P, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM and Rouleau GA (2000). Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Springer Nature  European Journal of Human Genetics  vol. 8, (5) 372-380. 10.1038/sj.ejhg.5200471

Kelsell DP (2000). CIMPle cancer genetic profiles. Elsevier  Trends in Molecular Medicine  vol. 6, (4) 10.1016/s1357-4310(00)01711-1

Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafé J-L, Paradisi M, Kelsell DP, Ansai S-I, Mitsuhashi Y, Larrègue M, Leigh IM, Harper JI, Taïeb A, de Prost Y, Cardon LR and Hovnanian A (2000). Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping. Elsevier  American Journal of Human Genetics  vol. 66, (3) 914-921. 10.1086/302824

Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS and Leigh IM (2000). Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Springer Nature  European Journal of Human Genetics  vol. 8, (2) 141-144. 10.1038/sj.ejhg.5200407

Talas U, Dunlop J, Khalaf S, Leigh IM and Kelsell DP (2000). Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism. Elsevier  Journal of Investigative Dermatology  vol. 114, (1) 165-170. 10.1046/j.1523-1747.2000.00825.x

Hanby AM, Kelsell DP, Potts HW, Gillett CE, Bishop DT, Spurr NK and Barnes DM (2000). Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer. Wiley  International Journal of Cancer  vol. 88, (2) 204-208. 10.1002/1097-0215(20001015)88:2<204::aid-ijc9>3.0.co;2-1

Wilgoss A, Leigh IM, Kelsell DP, Barnes MR, Dopping-Hepenstal P, Eady RAJ, Walter JM and Kennedy CTC (1999). Identification of a Novel Mutation R42P in the Gap Junction Protein β-3 Associated with Autosomal Dominant Erythrokeratoderma Variabilis. Elsevier  Journal of Investigative Dermatology  vol. 113, (6) 1119-1122. 10.1046/j.1523-1747.1999.00792.x

Kelsell DP, Stevens HP, Purkis PE, Talas U, Rustin MHA and Leigh IM (1999). Fine genetic mapping of diffuse non‐epidermolytic palmoplantar keratoderma to chromosome 12q11‐q13: exclusion of the mapped type II keratins. Wiley  Experimental Dermatology  vol. 8, (5) 388-391. 10.1111/j.1600-0625.1999.tb00387.x

Risk JM, Ruhrberg C, Hennies H-C, Mills HS, Di Colandrea T, Evans KE, Ellis A, Watt FM, Bishop DT, Spurr NK, Stevens HP, Leigh IM, Reis A, Kelsell DP and Field JK (1999). Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25. Elsevier  Genomics  vol. 59, (2) 234-242. 10.1006/geno.1999.5857

Rickman L, Šimrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RAJ, Leigh IM, Arnemann J, Magee AI, Kelsell DP and Buxton RS (1999). N-Terminal Deletion in a Desmosomal Cadherin Causes the Autosomal Dominant Skin Disease Striate Palmoplantar Keratoderma. Oxford University Press (Oup)  Human Molecular Genetics  vol. 8, (6) 971-976. 10.1093/hmg/8.6.971

Stevens HP, Choon SE, Hennies HC and Kelsell DP (1999). Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia. Oxford University Press (Oup)  British Journal of Dermatology  vol. 140, (5) 963-964. 10.1046/j.1365-2133.1999.02837.x

Kelsell DP and Stevens HP (1999). The palmoplantar keratodermas: much more than palms and soles. Elsevier  Trends in Molecular Medicine  vol. 5, (3) 107-113. 10.1016/s1357-4310(98)01428-2

White TW, Deans MR, Kelsell DP and Paul DL (1998). Connexin mutations in deafness. Springer Nature  Nature  vol. 394, (6694) 630-631. 10.1038/29202

Hu E, Zhu Y, Fredrickson T, Barnes M, Kelsell D, Beeley L and Brooks D (1998). Tissue Restricted Expression of Two Human Frzbs in Preadipocytes and Pancreas Volume 247, Number 2 (1998), pages 287–293. Elsevier  Biochemical and Biophysical Research Communications  vol. 248, (3) 940-943. 10.1006/bbrc.1998.9014

Hu E, Zhu Y, Fredrickson T, Barnes M, Kelsell D, Beeley L and Brooks D (1998). Tissue Restricted Expression of Two Human Frzbs in Preadipocytes and Pancreas. Elsevier  Biochemical and Biophysical Research Communications  vol. 247, (2) 287-293. 10.1006/bbrc.1998.8784

Phelan CM, Borg A, Cuny M, Crichton DN, Baldersson T, Andersen TI, Caligo MA, Lidereau R, Lindblom A, Seitz S, Kelsell D, Hamann U, Rio P, Thorlacius S, Papp J, Olah E, Ponder B, Bignon YJ, Scherneck S, Barkardottir R, Borresen-Dale AL, Eyfjörd J, Theillet C, Thompson AM and Larsson C (1998). Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters. Cancer Research  vol. 58, (5) 1004-1012.

Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ and Van Camp G (1998). A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). Bmj  Journal of Medical Genetics  vol. 35, (2) 10.1136/jmg.35.2.151

Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF and Leigh IM (1997). Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Springer Nature  Nature  vol. 387, (6628) 80-83. 10.1038/387080a0

Xu C, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S, Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E (1997). Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Wiley  Genes Chromosomes and Cancer  vol. 18, (2) 102-110. 10.1002/(sici)1098-2264(199702)18:2<102::aid-gcc4>3.0.co;2-6

Kelsell DP and Spurr NK (1997). Gene mapping using somatic cell hybrids. 10.1385/0-89603-482-8:45

Kelsell DP and Spurr NK (1996). Gene Mapping Using Somatic Cell Hybrids. Gene Isolation and Mapping Protocols  Springer Nature  10.1385/0-89603-482-8:45

Smith FJD, Eady RAJ, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WHI and Lane EB (1996). Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Springer Nature  Nature Genetics  vol. 13, (4) 450-457. 10.1038/ng0896-450

Kelsell DP, Spurr NK, Barnes DM, Gusterson B and Bishop DT (1996). Combined loss of BRCA1/BRCA2 in grade 3 breast carcinomas. Elsevier  The Lancet  vol. 347, (9014) 1554-1555. 10.1016/s0140-6736(96)90707-2

Kelsell DP, Risk JM, Leigh IM, Stevens HP, Ellis A, Hennies HC, Reis A, Weissenbach J, Bishop DT, Spurr NK and Field JK (1996). Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC ). Oxford University Press (Oup)  Human Molecular Genetics  vol. 5, (6) 857-860. 10.1093/hmg/5.6.857

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS and Leigh IM (1996). Linkage of an American Pedigree With Palmoplantar Keratoderma and Malignancy (Palmoplantar Ectodermal Dysplasia Type III) to 17q24: Literature Survey and Proposed Updated Classification of the Keratodermas. American Medical Association (Ama)  Jama Dermatology  vol. 132, (6) 640-651. 10.1001/archderm.1996.03890300056010

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RPR, Spurr NK and Leigh IM (1996). Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13. Elsevier  Journal of Investigative Dermatology  vol. 106, (4) 795-797. 10.1111/1523-1747.ep12346400

STEVENS HP, KELSKLL DP, LEIGH IM, OSTLERE LS, MACDERMOT KD and RUSTIN MHA (1996). Punctate palmoplantar keratoderma and malignancy in a four-generation family. Oxford University Press (Oup)  British Journal of Dermatology  vol. 134, (4) 720-726. 10.1111/j.1365-2133.1996.tb06978.x

Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Weber B, Couch F, Struewing J, Tonin P, Durocher F, Narod S, Skolnick MH, Lenoir G, Serova O, Ponder B, Stoppa-Lyonnet D, Easton D, King MC and Goldgar DE (1996). Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. American Journal of Human Genetics  vol. 58, (2) 271-280.

Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Michlem G, Barfoot R, Hamoudi R, Patel S, Rice C, Biggs P, Hashim Y, Smith A, Connor F, Arason A, Gudmundsson J, Ficenec D, Kelsell D, Ford D, Tonin P, Bishop DT, Spurr NK, Ponder BAJ, Eeles R, Peto J and Devilee P (1996). Identification of the breast cancer susceptibility gene BRCA2. Springer Nature  Nature  vol. 379, (6567) 749-749. 10.1038/379749a0

Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, Spurr N, Lennard L, Wieben E and Weinshilboum R (1996). Thiopurine Methyltransferase Pharmacogenetics: Human Gene Cloning and Characterization of a Common Polymorphism. Mary Ann Liebert  Dna and Cell Biology  vol. 15, (1) 17-30. 10.1089/dna.1996.15.17

Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G, Barfoot R, Hamoudi R, Patel S, Rices C, Biggs P, Hashim Y, Smith A, Connor F, Arason A, Gudmundsson J, Ficenec D, Kelsell D, Ford D, Tonin P, Timothy Bishop D, Spurr NK, Ponder BAJ, Eeles R, Peto J and Devilee P (1995). Identification of the breast cancer susceptibility gene BRCA2. Springer Nature  Nature  vol. 378, (6559) 789-792. 10.1038/378789a0

Cornelis RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, Ponder BAJ, Tonin P, Hamann U, Lindblom A, Lalle P, Longy M, Olàh E, Scherneck S, Bignon Y, Sobol H, Chang‐Claude J, Larsson C, Spurr N, Borg A, Barkardottir RB, Narod S and Devilee P (1995). High allele loss rates at I7q I2‐q2I in breast and ovarian tumors from BRCAI‐linked families. Wiley  Genes Chromosomes and Cancer  vol. 13, (3) 203-210. 10.1002/gcc.2870130310

KELSELL DP, ROOKE L, WARNE D, BOUZYK M, CULLIN L, COX S, WEST L, POVEY S and SPURR NK (1995). Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping. Wiley  Annals of Human Genetics  vol. 59, (2) 233-241. 10.1111/j.1469-1809.1995.tb00743.x

Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, Ponder BA, Weber BL, Garber JE and Birch JM (1995). An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium. American Journal of Human Genetics  vol. 56, (1) 254-264.

Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM and Spurr NK (1995). Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. Oxford University Press (Oup)  Human Molecular Genetics  vol. 4, (6) 1021-1025. 10.1093/hmg/4.6.1021

Easton DF, Ford D and Bishop DT (1995). Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. American Journal of Human Genetics  vol. 56, (1) 265-271.

Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Keisell DP, McLean WHI, Cook LJ, Griffiths WAD, Gschmeissner S, Spurr N and Leigh IM (1995). Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Oxford University Press (Oup)  Human Molecular Genetics  vol. 4, (10) 1875-1881. 10.1093/hmg/4.10.1875

Ford D, Easton DF, Bishop DT, Narod SA and Goldgar DE (1994). Risks of cancer in BRCA1-mutation carriers. Elsevier  The Lancet  vol. 343, (8899) 692-695. 10.1016/s0140-6736(94)91578-4

Kelsell DP, Black DM, Solomon E and Spurr NK (1993). Localization of a Second NM23 Gene, NME2, to Chromosome 17q21-q22. Elsevier  Genomics  vol. 17, (2) 522-524. 10.1006/geno.1993.1362

Spurr NK, Kelsell DP, Black DM, Murday VA, Turner G, Crockford GP, Solomon E, Cartwright RA and Bishop DT (1993). Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17. American Journal of Human Genetics  vol. 52, (4) 777-785.

Easton DF, Bishop DT, Ford D and Crockford GP (1993). Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. American Journal of Human Genetics  vol. 52, (4) 678-701.

Kelsell DP, Black DM, Bishop DT and Spurr NK (1993). Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1. Oxford University Press (Oup)  Human Molecular Genetics  vol. 2, (11) 1823-1828. 10.1093/hmg/2.11.1823

SPURR NK, KELSELL D, ROOKE L, CAVALLI‐SFORZA LL, BOWCOCK A and FEDER J (1991). Assignment of eight human genomic DNA sequences detecting high frequency restriction fragment length polymorphisms. Wiley  Annals of Human Genetics  vol. 55, (2) 141-150. 10.1111/j.1469-1809.1991.tb00407.x

Walsh FS, Barton CH, Putt W, Moore SE, Kelsell D, Spurr N and Goodfellow PN (1990). N‐Cadherin Gene Maps to Human Chromosome 18 and Is Not Linked to the E‐Cadherin Gene. Wiley  Journal of Neurochemistry  vol. 55, (3) 805-812. 10.1111/j.1471-4159.1990.tb04563.x

Kelsell DP, Wolf CR and Spurr NK (1990). An Xmnl RFLP detected with a probe for the CYP2E gene locus on chromosome 10. Oxford University Press (Oup)  Nucleic Acids Research  vol. 18, (10) 3111-3111. 10.1093/nar/18.10.3111