Publications
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Publications of specific relevance to Predictive in vitro Models
2024
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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.2023.12.0122023
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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 vol. 144, (4) 748-754.
10.1016/j.jid.2023.10.030![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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/ljad0362022
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.2022.09.1092021
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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/s00441-021-03488-72020
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.148942019
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.173882018
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.133292017
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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/srep413432016
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.2016.01.0352015
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.2015.27.4.4742014
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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-2012-3035812013
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.2012.3322012
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.00512922011
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.x2010
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.2010.186338.312009
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.2009.0808602008
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.x2007
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.
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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
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![](/publications/bullet24.png)
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.033292006
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
(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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.2005.0329042005
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.141.2.1992004
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.03-0763fje2003
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.66009192002
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.
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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.
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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.
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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.
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.
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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.
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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.
2001
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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.
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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![](/publications/bullet24.png)
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.
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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.
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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.
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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 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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.
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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.38.1.202000
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.
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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![](/publications/bullet24.png)
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.
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.x1999
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.x1998
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.
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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.35.2.1511997
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![](/publications/bullet24.png)
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;2-61996
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.
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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![](/publications/bullet24.png)
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.1996.15.171995
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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![](/publications/bullet24.png)
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![](/publications/bullet24.png)
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.
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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.
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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/4.10.18751994
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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)91578-41993
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![](/publications/bullet24.png)
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.
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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/2.11.18231991
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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.x1990
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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