188 Is mouse paw skin a good model of human palmoplantar skin?
Del Caño LR, Dunnigan A, Evora A, Ahmad U, Kelsell DP and Blaydon D
Journal of Investigative Dermatology, Elsevier vol. 144 (12) 
01-12-2024

Celebrating 20 Years of the International Pachyonychia Congenita Consortium
Coulombe PA, Hansen D, Hickerson R, Hovnanian A, O'Toole EA, Kelsell DP, Evans H, Schwartz J and Sprecher E
Journal of Investigative Dermatology, Elsevier vol. 145 (4), 725-727.  
28-10-2024

O11 Associations between hyperlinearity of the sole and filaggrin variants in atopic eczema in a South Asian population: a cross-sectional study
Tan XL, Chan J, Thomas B, Van Duijvenboden S, Hogan S, Hughes A, Tawfik S, Dhoat S, Atkar R, Robinson E, Rahman S, Ahmed R, Begum R, Khanam H, Bourne E, Wozniak E, Mein C, Kelsell D and O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i6-i7.  
28-06-2024

P083 Ichthyosis vulgaris in a South Asian population with atopic eczema: prevalence, clinical phenotypes and filaggrin variants
Chan J, Tan XL, Thomas B, Hughes A, Tawfik S, Dhoat S, Atkar R, Begum J, Rahman S, Ahmed R, Begum R, Khanam H, Kelsell D and O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i53-i54.  
28-06-2024

SG10 Ichthyosis vulgaris in a South Asian population with atopic eczema: prevalence, clinical phenotypes and filaggrin variants
Chan J, Tan XL, Thomas B, Hughes A, McCarthy R, Tawfik S, Dhoat S, Atkar R, Begum J, Rahman S, Ahmed R, Begum R, Khanam H, Kelsell D and O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i185-i186.  
28-06-2024

Su1238 SUBSTANCE P AND NK1R – A NOVEL NEUROIMMUNE PATHWAY IN GASTRO-OESOPHAGEAL REFLUX DISEASE
Leech T, Peiris M, Woodland PJ, Kelsell D and Blaydon DC
Gastroenterology, Elsevier vol. 166 (5) 
01-05-2024

A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma
Del Caño LR, South AP, O'Toole EA, Kelsell DP and Blaydon DC
Journal of Investigative Dermatology, Elsevier vol. 144 (9), 2092-2096.  
23-03-2024

Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway
Dulloo I, Tellier M, Levet C, Chikh A, Zhang B, Blaydon DC, Webb CM, Kelsell DP and Freeman M
Molecular Cell, Elsevier vol. 84 (2), 277-292.e9.  
01-01-2024

Investigating iRHOM2-Associated Transcriptional Changes in Tylosis With Esophageal Cancer
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
Gastro Hep Advances, Elsevier vol. 3 (3), 385-395.  
26-12-2023

Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches
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
Journal of Investigative Dermatology, Elsevier vol. 144 (4), 748-754.  
15-12-2023

Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile
Ustaoglu A, Daudali FA, D’afflitto M, Murtough S, Lee C, Moreno E, Blaydon DC, Kelsell DP, Sifrim D, Woodland P and Peiris M
Frontiers in Immunology, Frontiers vol. 14 
30-11-2023

Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population
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
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (6), 785-792.  
25-02-2023

Dermatology Quality of Life Index scores in Bangladeshi patients with atopic eczema and their families in East London
Tawfik SS, Thomas BR, Kelsell DP, Grigg J and O’Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (4), 524-532.  
20-12-2022

188 CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes
Ramos L, Yousaf Y, Kelsell D and Blaydon D
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022

173 A Model to Unravel Pathways Underpinning Palmoplantar Homeostasis and Disease
Murtough S, Del Caño LR, Delaney PJ, Webb CM, Colom B, Jones PH, Blaydon D and Kelsell D
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022

099 Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status
Thomas B, Kelsell D and O’Toole EA
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022

Obituary — Werner W. Franke
Unsicker K, Jockusch BM and Kelsell DP
Cell and Tissue Research, Springer Nature vol. 390 (3), 315-316.  
29-11-2022

ESDR188 - CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes
Ramos L, Yousaf Y, Kelsell D and Blaydon D
, Morressier 
22-09-2022

ESDR173 - A Model to Unravel Pathways Underpinning Palmoplantar Homeostasis and Disease
Murtough S, Ramos Del Caño L, Delaney P, Webb C, Colom B, Jones P, Blaydon D, Kelsell D, Babu D and Pennington D
, Morressier 
22-09-2022

ESDR099 - Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status
Thomas B, Kelsell D and O'Toole E
, Morressier 
21-09-2022

Modelling of temporal exposure to the ambient environment and eczema severity
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
Jid Innovations, 100062-100062.  
01-10-2021

179 Phenotype association with Filaggrin loss of function from the Tower Hamlets Eczema Assessment (THEA)
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
Journal of Investigative Dermatology, Elsevier vol. 141 (10) 
01-10-2021

Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy
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
Cell and Tissue Research, Springer Nature vol. 386 (1), 79-98.  
08-07-2021

iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility
Chao-Chu J, Murtough S, Zaman N, Pennington DJ, Blaydon DC and Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 141 (4), 722-726.  
17-10-2020

Celebrating the 50th Anniversary of ESDR
Peltonen S, Eming SA, Griffiths CEM, Széll M, Kelsell D and De Rie MA
Journal of Investigative Dermatology, Elsevier vol. 140 (9), s145-s146.  
01-09-2020

The Future of ESDR
Griffiths CEM, Széll M and Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 140 (9), s192-s193.  
13-08-2020

3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.
Enjalbert F, Dewan P, Caley MP, Jones EM, Morse MA, Kelsell DP, Enright AJ and O'Toole EA
Journal of Clinical Investigation, American Society For Clinical Investigation 
16-06-2020

Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree
de Oliveira RTG, Christofolini DM, Criado PR, Martins EL, Kelsell D and Filho CDSM
International Journal of Dermatology, Wiley vol. 59 (6), 722-725.  
20-04-2020

Inherited skin disease
Maruthappu T and Kelsell DP
In Oxford Textbook of Medicine, Oxford University Press (Oup) 5602-5611.  
01-01-2020

ADAM17-Mediated Reduction in CD14++CD16+ Monocytes ex vivo and Reduction in Intermediate Monocytes With Immune Paresis in Acute Pancreatitis and Acute Alcoholic Hepatitis
Waller K, James C, de Jong A, Blackmore L, Ma Y, Stagg A, Kelsell D, O'Dwyer M, Hutchins R and Alazawi W
Frontiers in Immunology, Frontiers vol. 10 
27-08-2019

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome
Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö, Kelsell DP and Yakıcıer MC
Cell and Tissue Research, Springer Nature vol. 378 (2), 267-277.  
07-08-2019

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report
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
European Journal of Heart Failure, Wiley vol. 21 (8), 955-964.  
18-06-2019

454 iRhom2-mediated immune dysregulation: Impact on the skin and oesophagus
Webb C, Murtough S, Chikh A, Picard HLD, Wang J, Pink R, Risk JM, Fitzgerald RC, Pennington DJ and Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 139 (5) 
01-05-2019

Marcel F. Jonkman, MD, PhD (1957–2019)
van den Akker PC, Bolling MC, Pasmooij AMG, Kelsell DP and Uitto J
Journal of Investigative Dermatology, Elsevier vol. 139 (5), 982-983.  
01-05-2019

DSP 突变与致心律失常性心肌病
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
British Journal of Dermatology, Oxford University Press (Oup) vol. 180 (5), e169-e169.  
26-04-2019

DSP mutations and arrhythmogenic cardiomyopathy
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
British Journal of Dermatology, Oxford University Press (Oup) vol. 180 (5), e157-e157.  
26-04-2019

Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype
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
British Journal of Dermatology, Oxford University Press (Oup) vol. 180 (5), 1114-1122.  
02-01-2019

P5709Hair and cutaneous phenotypes linked to Arrhythmogenic Cardiomyopathy caused by Desmoplakin haploinsufficiency: an additional disease marker
Castelletti S, Maruthappu T, Posafalvi A, Syrris P, O'Toole EA, Green KJ, Tinker A, McKenna WJ and Kelsell DP
European Heart Journal, Oxford University Press (Oup) vol. 39 (suppl_1) 
01-08-2018

Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes
KELSELL DP, O'TOOLE E, PIGORS M, SCOTT CA, Tabarra N and VAN HEEL DA
Journal of Investigative Dermatology, Elsevier 
30-05-2018

A novel mechanism for activation of GLI1 by nuclear SMO that escapes anti-SMO inhibitors
Rahman MM, Hazan A, Selway JL, Herath DS, Harwood CA, Pirzado MS, Atkar R, Kelsell DP, Linton KJ, Philpott MP and Neill GW
Cancer Research, American Association For Cancer Research (Aacr) vol. 78 (10) 
14-05-2018

784 The p63 - iRHOM2 signalling axis in the keratinocyte stress response
Chikh A, Arcidiacono P, Webb C, Brooke M, Zhou H and Kelsell D
Journal of Investigative Dermatology, Elsevier vol. 138 (5) 
01-05-2018

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response
Arcidiacono P, Webb CM, Brooke MA, Zhou H, Delaney PJ, Ng K-E, Blaydon DC, Tinker A, Kelsell DP and Chikh A
Nature Communications, Springer Nature vol. 9 (1) 
09-03-2018

Noonan syndrome with multiple lentigines and associated craniosynostosis
McDonald BS, Pigors M, Kelsell DP, O'Toole EA, Burkitt‐Wright E, Kerr B and Batta K
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 43 (3), 357-359.  
22-01-2018

Cellular biomechanics impairment in keratinocytes is associated with a C-terminal truncated desmoplakin: An atomic force microscopy investigation
Puzzi L, Borin D, Martinelli V, Mestroni L, Kelsell DP and Sbaizero O
Micron, Elsevier vol. 106, 27-33.  
19-12-2017

A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID)
Russell MA, Pigors M, Houssen ME, Manson A, Kelsell D, Longhurst H and Morgan NG
Clinical Immunology, Elsevier vol. 187, 132-136.  
24-11-2017

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
Maruthappu T, McGinty LA, Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM, Simpson MA, O’Toole EA and Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 138 (4), 984-987.  
11-11-2017

A profile of lipid dysregulation in harlequin ichthyosis.
Ip SCI, Cottle DL, Jones LK, Weir JM, Kelsell DP, O'Toole EA, Meikle PJ and Smyth IM
Br J Dermatol vol. 177 (5), e217-e219.  
01-11-2017

086 Evidence for a palmoplantar-specific role for microtubules
Picard HLD, Blaydon D and Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 137 (10) 
01-10-2017

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
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
Journal of Investigative Dermatology, Elsevier vol. 137 (11), 2344-2353.  
31-07-2017

Rhomboid family member 2 Regulates cytoskeletal stress associated Keratin 16
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
Nature Communications, Nature Publishing Group vol. 8, 14174-14174.  
27-01-2017

Erratum: Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways
Wolf C, Qian Y, Brooke MA, Kelsell DP and Franzke C-W
Scientific Reports, Springer Nature vol. 7 (1) 
23-01-2017

ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C γ1 and protein kinase C pathways
WOLF C, QIAN Y, BROOKE MA, KELSELL DP and FRANZKE CW
Scientific Reports, Nature Publishing Group: Open Access Journals - Option C vol. 6 
22-12-2016

183 Clinical and genetic studies reveal cutaneous phenotypes linked to desmoplakin haploinsufficiency in arrhythmogenic cardiomyopathy
Posafalvi A, Maruthappu T, Castelletti S, Syrris P, O’Toole E, McKenna WJ and Kelsell DP
 
01-09-2016

Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions
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
American Journal of Human Genetics, Elsevier (Cell Press): 6 Month Embargo 
28-07-2016

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation
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
American Journal of Human Genetics, Elsevier vol. 99 (1), 115-124.  
23-06-2016

New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
Salas-Alanís JC, Scott CA, Fajardo-Ramírez OR, Duran C, Moreno-Treviño MG and Kelsell DP
Mol Syndromol vol. 7 (3), 160-163.  
02-06-2016

Cover image: Unpeeling the layers of harlequin ichthyosis.
Harris AG, Choy C, Pigors M, Kelsell DP and Murrell DF
Br J Dermatol vol. 174 (5), 1160-1161.  
21-05-2016

Cardiomyopathy diagnosed in the eldest child harboring p.S24X mutation in JUP.
Boente MD, Nanda A, Baselaga PA, Kelsell DP, McGrath JA and South AP
The British Journal of Dermatology 
01-04-2016

Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population.
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
Gastroenterology vol. 150 (5), 1171-1182.  
09-02-2016

Acral peeling skin syndrome associated with a novel CSTA gene mutation
Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA and Batta K
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 41 (4), 394-398.  
18-12-2015

Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17
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
Science Signaling, American Association For The Advancement of Science (Aaas) vol. 8 (401) 
03-11-2015

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms
Ellis A, Risk JM, Maruthappu T and Kelsell DP
Orphanet Journal of Rare Diseases, Springer Nature vol. 10 (1) 
29-09-2015

Junctions in human health and inherited disease
Getsios S, Kelsell DP and Forge A
Cell and Tissue Research vol. 360 (3), 435-438.  
04-06-2015

Evolution of Electrocardiographic and Structural Features Over 3 Decades in Arrhythmogenic Cardiomyopathy
Abrams DJ, Kirkby C, Page SP, Earley MJ, Nitiou D, Kelsell DP and Schilling RJ
Circulation, Wolters Kluwer vol. 131 (25), 2233-2235.  
01-06-2015

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B
Bland PJ, Chronnell C, Plagnol V, Kayserili H and Kelsell DP
British Journal of Dermatology, Oxford University Press (Oup) vol. 173 (1), 285-287.  
18-05-2015

Junctions in human health and inherited disease
Getsios S, Kelsell DP and Forge A
Cell and Tissue Research, Springer Nature vol. 360 (3), 435-438.  
11-04-2015

Cell Cycle- and Cancer-Associated Gene Networks Activated by Dsg2: Evidence of Cystatin A Deregulation and a Potential Role in Cell-Cell Adhesion
Gupta A, Nitoiu D, Brennan-Crispi D, Addya S, Riobo NA, Kelsell DP and Mahoney MG
Plos One, Public Library of Science (Plos) vol. 10 (3) 
18-03-2015

A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis
AlFawaz S, Plagnol V, Wong FSL and Kelsell DP
Archives of Oral Biology, Elsevier vol. 60 (7), 982-988.  
03-03-2015

iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death
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
Proceedings of The National Academy of Sciences of The United States of America, Proceedings of The National Academy of Sciences vol. 112 (9), e973-e981.  
17-02-2015

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
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
American Journal of Human Genetics, Elsevier vol. 96 (3), 440-447.  
12-02-2015

Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis
Aggarwal S, Kar A, Bland P, Kelsell D and Dalal A
Gene vol. 556 (2), 254-256.  
10-02-2015

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia
Salas-Alanis JC, Wozniak E, Mein CA, Mckinster CCD, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML, Choate KA and Saldaña HAB
Annals of Dermatology, Xmlink vol. 27 (4), 474-477.  
01-01-2015

Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis
Aggarwal S, Kar A, Bland P, Kelsell D and Dalal A
Gene, Elsevier vol. 556 (2), 254-256.  
03-12-2014

Defective channels lead to an impaired skin barrier.
Blaydon DC and Kelsell DP
J Cell Sci vol. 127 (Pt 20), 4343-4350.  
15-10-2014

Exoming into rare skin disease: EGFR deficiency.
Brooke MA, O'Toole EA and Kelsell DP
J Invest Dermatol vol. 134 (10), 2486-2488.  
01-10-2014

Discovery in genetic skin disease: the impact of high throughput genetic technologies.
Maruthappu T, Scott CA and Kelsell DP
Genes (Basel) vol. 5 (3), 615-634.  
04-08-2014

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.
Brooke MA, Etheridge SL, Kaplan N, Simpson C, O'Toole EA, Ishida-Yamamoto A, Marches O, Getsios S and Kelsell DP
Hum Mol Genet vol. 23 (15), 4064-4076.  
01-08-2014

Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.
Nitoiu D, Etheridge SL and Kelsell DP
Cell Commun Adhes vol. 21 (3), 129-140.  
01-06-2014

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α.
Brooke MA, Longhurst HJ, Plagnol V, Kirkby NS, Mitchell JA, Rüschendorf F, Warner TD, Kelsell DP and MacDonald TT
Gut vol. 63 (1), 96-104.  
01-01-2014

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
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
Am J Hum Genet vol. 93 (2), 330-335.  
08-08-2013

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J and Kelsell DP
Arch Oral Biol vol. 58 (5), 462-466.  
01-05-2013

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene
Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J and Kelsell DP
Archives of Oral Biology vol. 58 (5), 462-466.  
01-05-2013

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.
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
J Invest Dermatol vol. 133 (2), 573-576.  
01-02-2013

Current insights into protease dynamics in human epithelial disease and barrier function.
Curtis MA and Kelsell DP
Cell Tissue Res vol. 351 (2), 213-215.  
01-02-2013

Rhomboid proteins: A role in keratinocyte proliferation and cancer
Etheridge SL, Brooke MA, Kelsell DP and Blaydon DC
Cell and Tissue Research vol. 351 (2), 301-307.  
01-02-2013

Current insights into protease dynamics in human epithelial disease and barrier function
Curtis MA and Kelsell DP
Cell and Tissue Research vol. 351 (2), 213-215.  
01-02-2013

Connexin 26 facilitates gastrointestinal bacterial infection in vitro.
Simpson C, Kelsell DP and Marchès O
Cell Tissue Res vol. 351 (1), 107-116.  
01-01-2013

Connexin 26 facilitates gastrointestinal bacterial infection in vitro
Simpson C, Kelsell DP and Marchès O
Cell and Tissue Research vol. 351 (1), 107-116.  
01-01-2013

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases
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
Journal of Investigative Dermatology vol. 133 (2), 573-576.  
01-01-2013

A missense mutation in the MBTPS2 gene underlies the x-linked form of olmsted syndrome
Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V and Kelsell DP
Journal of Investigative Dermatology vol. 133 (2), 571-573.  
01-01-2013

Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene.
Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP, Leigh IM and Proby CM
Int J Cancer vol. 131 (3), E216-E226.  
01-08-2012

Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene
Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP, Leigh IM and Proby CM
International Journal of Cancer vol. 131 (3) 
01-08-2012

Connexins in epidermal homeostasis and skin disease
Scott CA, Tattersall D, O'Toole EA and Kelsell DP
Biochimica Et Biophysica Acta - Biomembranes vol. 1818 (8), 1952-1961.  
01-08-2012

The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.
Cabral RM, Tattersall D, Patel V, McPhail GD, Hatzimasoura E, Abrams DJ, South AP and Kelsell DP
J Cell Sci vol. 125 (Pt 12), 2853-2861.  
15-06-2012

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
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
Am J Hum Genet vol. 90 (2), 340-346.  
10-02-2012

The authors reply
MacDonald TT, Harper JI and Kelsell DP
New England Journal of Medicine vol. 366 (2) 
12-01-2012

Cell-cell connectivity: desmosomes and disease.
Brooke MA, Nitoiu D and Kelsell DP
J Pathol vol. 226 (2), 158-171.  
01-01-2012

Inflammatory Bowel Disease and ADAM17 Deletion REPLY
MacDonald TT, Harper JI and Kelsell DP
New England Journal of Medicine vol. 366 (2), 190-190.  
01-01-2012

A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome
Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V and Kelsell DP
Journal of Investigative Dermatology 
01-01-2012

Rhomboid proteins: a role in keratinocyte proliferation and cancer
Etheridge SL, Brooke MA, Kelsell DP and Blaydon DC
Cell and Tissue Research, 1-7.  
01-01-2012

Characterisation and validation of insertions and deletions in 173 patient exomes.
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
Plos One vol. 7 (12) 
01-01-2012

Inflammatory skin and bowel disease linked to ADAM17 deletion.
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
N Engl J Med vol. 365 (16), 1502-1508.  
20-10-2011

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.
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
Am J Hum Genet vol. 89 (4), 564-571.  
07-10-2011

Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association
Matos TD, Simões-Teixeira H, Caria H, Cascão R, Rosa H, O′Neill A, Dias Ó, Andrea ME, Kelsell DP and Fialho G
Genetics Research International, Hindawi vol. 2011 (1) 
05-10-2011

p63 Mediates an Apoptotic Response to Pharmacological and Disease-Related ER Stress in the Developing Epidermis
Pyati UJ, Gjini E, Carbonneau S, Lee JS, Guo F, Jette CA, Kelsell DP and Look AT
Dev Cell vol. 21 (3), 492-505.  
13-09-2011

Key functions for gap junctions in skin and hearing.
Scott CA and Kelsell DP
Biochem J vol. 438 (2), 245-254.  
01-09-2011

SNPing at the Epidermal Barrier
Kelsell DP and Byrne C
J Invest Dermatol vol. 131 (8), 1593-1595.  
01-08-2011

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
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
Arch Dermatol vol. 147 (6), 681-686.  
01-06-2011

Collodion Baby
O'Toole EA and Kelsell DP
In Harper's Textbook of Pediatric Dermatology, Wiley 12.1-12.4.  
24-05-2011

Harlequin Ichthyosis
O'Toole EA and Kelsell DP
In Harper's Textbook of Pediatric Dermatology, Wiley 13.1-13.6.  
24-05-2011

Connexins in epidermal homeostasis and skin disease
Scott CA, Tattersall D, O'Toole EA and Kelsell DP
Biochimica Et Biophysica Acta - Biomembranes 
01-01-2011

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.
Scott CA, O'Toole EA, Mohungoo MJ, Messenger A and Kelsell DP
Clin Exp Dermatol vol. 36 (1), 88-90.  
01-01-2011

Identification and characterization of DSPIa, a novel isoform of human desmoplakin
Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP and South AP
Cell Tissue Res vol. 341 (1), 121-129.  
01-07-2010

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
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
J Invest Dermatol vol. 130 (6), 1543-1550.  
01-06-2010

Inherited skin disease
Leigh IM and Kelsell DP
In Oxford Textbook of Medicine, Oxford University Press (Oup) 4593-4601.  
01-05-2010

Harlequin ichthyosis: a review of 50 cases and update of ABCA12 mutation analysis
Rajpopat S, Kelsell D and O'Toole E
Archives of Disease in Childhood, Bmj vol. 95 (Suppl 1), a14-a14.  
01-04-2010

EKV mutant connexin 31 associated cell death is mediated by ER stress.
Tattersall D, Scott CA, Gray C, Zicha D and Kelsell DP
Hum Mol Genet vol. 18 (24), 4734-4745.  
15-12-2009

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.
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
Br J Dermatol vol. 160 (5), 1113-1115.  
01-05-2009

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.
Thomas AC, Tattersall D, Norgett EE, O'Toole EA and Kelsell DP
Am J Pathol vol. 174 (3), 970-978.  
01-03-2009

Connexins in Skin Biology
Aasen T and Kelsell DP
In Connexins, Springer Nature 307-321.  
01-01-2009

5 Human genetics
Court DS and Kelsell DP
In Medical Sciences, Elsevier 185-236.  
01-01-2009

Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breast.
Ellis PE, Cano SD, Fear M, Kelsell DP, Ghali L, Crow JC, Perrett CW and MacLean AB
Mod Pathol vol. 21 (10), 1192-1199.  
01-10-2008

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss
Matos TD, Caria H, Simoes-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell DP and Fialho G
Hearing Res vol. 240 (1-2), 87-92.  
01-06-2008

Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam J-S, Yoon JK, Kelsell DP and Christiano AM
J Invest Dermatol vol. 128 (4), 867-870.  
01-04-2008

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
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
Br J Dermatol vol. 158 (3), 611-613.  
01-03-2008

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
Matos TD, Caria H, Simões-Teixeira H, Aasen T, Nickel R, Jagger DJ, O'Neill A, Kelsell DP and Fialho G
J Med Genet vol. 44 (11), 721-725.  
01-11-2007

A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro.
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
J Membr Biol vol. 218 (1-3), 29-37.  
01-08-2007

Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis.
Purdie KJ, Lambert SR, Teh M-T, Chaplin T, Molloy G, Raghavan M, Kelsell DP, Leigh IM, Harwood CA, Proby CM and Young BD
Genes Chromosomes Cancer vol. 46 (7), 661-669.  
01-07-2007

Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis
Kelsell DP, HARWOOD CA, Leigh IM, Proby CM, Purdie KJ, Teh MT, Lambert SR, Young BD, Raghavan M, Molloy G and Chaplin T
Genes Chromosomes Cancer vol. 46, 661-669.  
01-07-2007

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
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
Br J Dermatol vol. 156 (5), 1015-1019.  
01-05-2007

R-spondins in cutaneous biology: Nails and cancer
Blaydon DC, Philpott MP and Kelsell DP
Cell Cycle vol. 6 (8), 895-897.  
15-04-2007

R-spondins in cutaneous biology: nails and cancer.
Blaydon DC, Philpott MP and Kelsell DP
Cell Cycle vol. 6 (8), 895-897.  
15-04-2007

Identifying Mutations in Single Gene Disorders
Kelsell DP, Blaydon D and Mein CA
, 145-164.  
21-03-2007

Erratum: Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (Journal of Cell Science vol. 120 (330-339))
Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP
Journal of Cell Science vol. 120 (5) 
01-03-2007

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (vol 120, pg 330, 2007)
Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP
J Cell Sci vol. 120 (5), 917-917.  
01-03-2007

Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.
Unsworth HC, Aasen T, McElwaine S and Kelsell DP
Hum Mol Genet vol. 16 (2), 165-172.  
15-01-2007

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation.
Teh M-T, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP
J Cell Sci vol. 120 (Pt 2), 330-339.  
15-01-2007

ABCA12 is the major harlequin ichthyosis gene.
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
J Invest Dermatol vol. 126 (11), 2408-2413.  
01-11-2006

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
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
Nat Genet vol. 38 (11), 1245-1247.  
01-11-2006

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.
Rajpar SF, Cullup T, Kelsell DP and Moss C
Br J Dermatol vol. 155 (1), 204-206.  
01-07-2006

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM and Kelsell DP
J Invest Dermatol vol. 126 (7), 1651-1654.  
01-07-2006

Séance conjointe entre la Société Française de Dermatologie Pédiatrique, la Société Française de Dermatologie et la British Society of Paediatric Dermatology

Annales De Dermatologie Et De VéNéRéOlogie, Elsevier vol. 133 (6-7) 
01-06-2006

Two siblings with harlequin ichthyosis, clinical and molecular findings
Mak RKH, Paige D, Leigh IM, Kelsell DP and O’toole EA
Annales De Dermatologie Et De VéNéRéOlogie, Elsevier vol. 133 (6-7) 
01-06-2006

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.
Abrams CK, Freidin MM, Verselis VK, Bargiello TA, Kelsell DP, Richard G, Bennett MVL and Bukauskas FF
Proc Natl Acad Sci U S A vol. 103 (13), 5213-5218.  
28-03-2006

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
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
J Med Genet vol. 43 (2) 
01-02-2006

Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
Common JEA, O'Toole EA, Leigh IM, Thomas A, Griffiths WAD, Venning V, Grabczynska S, Peris Z, Kansky A and Kelsell DP
J Invest Dermatol vol. 125 (5), 920-927.  
01-11-2005

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).
Common JEA, Bitner-Glindzicz M, O'Toole EA, Barnes MR, Jenkins L, Forge A and Kelsell DP
Clin Exp Dermatol vol. 30 (6), 688-693.  
01-11-2005

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM, Tomlinson IPM and Weaver T
J Mol Diagn vol. 7 (4), 437-443.  
01-10-2005

Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event.
Teh M-T, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M, Harwood CA, Proby CM, Philpott MP, Young BD and Kelsell DP
Cancer Res vol. 65 (19), 8597-8603.  
01-10-2005

Genome-wide SNP Microarray Mapping in Basal Cell Carcinomas Unveils Uniparental Disomy as a Key Somatic Event
Philpott MP, KELSELL DP, Harwood C, Proby C, Blaydon D, Teh M-T, Foot NJ, Skoulakis S, Chaplin T and Young BD
Cancer Research vol. 65, 8597-8603.  
01-10-2005

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
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
Am J Hum Genet vol. 76 (5), 794-803.  
01-05-2005

Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.
Di W-L, Gu Y, Common JEA, Aasen T, O'Toole EA, Kelsell DP and Zicha D
J Cell Sci vol. 118 (Pt 7), 1505-1514.  
01-04-2005

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome.
Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S and Tomlinson IPM
Arch Dermatol vol. 141 (2), 199-206.  
01-02-2005

Connexin mutations in human disease.
Kelsell DP
Exp Dermatol vol. 13 (10), 661-662.  
01-10-2004

Quantitative fluorescence resonance energy transfer (FRET) measurement with acceptor photobleaching and spectral unmixing.
Gu Y, Di WL, Kelsell DP and Zicha D
J Microsc vol. 215 (Pt 2), 162-173.  
01-08-2004

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.
Common JEA, Di W-L, Davies D and Kelsell DP
J Med Genet vol. 41 (7), 573-575.  
01-07-2004

Hereditary 'white nails': a genetic and structural study.
Norgett EE, Wolf F, Balme B, Leigh IM, Perrot H, Kelsell DP and Haftek M
Br J Dermatol vol. 151 (1), 65-72.  
01-07-2004

p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma.
Brown VL, Harwood CA, Crook T, Cronin JG, Kelsell DP and Proby CM
J Invest Dermatol vol. 122 (5), 1284-1292.  
01-05-2004

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.
Skerrett IM, Di W-L, Kasperek EM, Kelsell DP and Nicholson BJ
Faseb J vol. 18 (7), 860-862.  
01-05-2004

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.
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
Hum Genet vol. 114 (6), 534-540.  
01-05-2004

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.
Skerrett IM, Di WL, Kasperek EM, Kelsell DP and Nicholson BJ
The Faseb Journal : Official Publication of The Federation of American Societies For Experimental Biology vol. 18 (7), 860-862.  
01-01-2004

Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability.
Alam NA, Gorman P, Jaeger EEM, Kelsell D, Leigh IM, Ratnavel R, Murdoch ME, Houlston RS, Aaltonen LA, Roylance RR and Tomlinson IPM
Cancer Genet Cytogenet vol. 147 (2), 121-127.  
01-12-2003

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
Hatsell SJ, Stevens H, Jackson AP, Kelsell DP and Zvulunov A
Br J Dermatol vol. 149 (1), 174-180.  
01-07-2003

Cellular Mechanisms of Mutant Connexins in Skin Disease and Hearing Loss
Common J, Di W-L, Davies D, Galvin H, Leigh I, O'Toole E and Kelsell D
Cell Communication & Adhesion, Taylor & Francis vol. 10 (4), 347-351.  
01-07-2003

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
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
Hum Mol Genet vol. 12 (11), 1241-1252.  
01-06-2003

Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas.
Edmunds SC, Cree IA, Dí Nícolantonío F, Hungerford JL, Hurren JS and Kelsell DP
Br J Cancer vol. 88 (9), 1403-1405.  
06-05-2003

Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength.
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
Journal of Cell Biology., The Rockefeller University Press vol. 159 (6), 1005-1017.  
23-12-2002

Double jeopardy: Ras and CDK4 co-expression in skin cancer.
Edmunds SC and Kelsell DP
Trends Mol Med vol. 8 (12) 
01-12-2002

Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
Common JEA, Becker D, Di W-L, Leigh IM, O'Toole EA and Kelsell DP
Biochem Biophys Res Commun vol. 298 (5), 651-656.  
15-11-2002

Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus.
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
Oncogene vol. 21 (41), 6395-6402.  
12-09-2002

Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma.
Edmunds SC, Kelsell DP, Hungerford JL and Cree IA
Invest Ophthalmol Vis Sci vol. 43 (9), 2845-2851.  
01-09-2002

Mechanisms of inactivation of p16(INK4a) & p14(ARF) in cutaneous squamous cell carcinoma
Brown VL, Harwood CA, Crook T, Kelsell DP and Proby CM
J Invest Dermatol vol. 119 (3), 752-752.  
01-09-2002

Defective trafficking and cell death are characteristic of skin disease-associated connexin 31 mutations in keratinocytes
Di WL, Monypenny J, Common JEA, Kennedy CTC, Holland KA, Rugg EL, Leigh IM, Zicha D and Kelsell DP
J Invest Dermatol vol. 119 (3), 745-745.  
01-09-2002

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
Di W-L, Monypenny J, Common JEA, Kennedy CTC, Holland KA, Leigh IM, Rugg EL, Zicha D and Kelsell DP
Hum Mol Genet vol. 11 (17), 2005-2014.  
15-08-2002

Defective trafficking and cell death is characteristic of skin disease-associated Connexin 31 mutations
KELSELL DP, Leigh IM, Rugg EL, Holland KA, Monypenny J, Di WL, Zicha DI, Kennedy CTC and Common JEA
Human Molecular Genetics. vol. 11 (17), 2005-2014.  
01-08-2002

Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumours.
Brown VL, Proby CM, Barnes DM and Kelsell DP
Br J Cancer vol. 87 (2), 208-211.  
15-07-2002

Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.
Rugg EL, Common JEA, Wilgoss A, Stevens HP, Buchan J, Leigh IM and Kelsell DP
Br J Dermatol vol. 146 (6), 952-957.  
01-06-2002

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
Gottfried I, Landau M, Glaser F, Di W-L, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP and Avraham KB
Hum Mol Genet vol. 11 (11), 1311-1316.  
15-05-2002

Functional analyses of connexin mutations in keratinocytes (vol 117, pg 775, 2001)
Kelsell DP, Di W, Common JEA, Holland KA, Rugg EL and Leigh IM
J Invest Dermatol vol. 118 (4), 741-741.  
01-04-2002

Errata

Journal of Investigative Dermatology, Elsevier vol. 118 (4), 741-742.  
01-04-2002

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
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
Nat Genet vol. 30 (4), 406-410.  
01-04-2002

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective tracking of the connexin 31 protein.
KELSELL DP, Avraham KB, Ophir J, Glaser F, Gottfried I, Mevorah B, Ben-Tal N, Landau M and Di WL
Human Molecular Genetics vol. 11 (11), 1311-1316.  
01-01-2002

SPINK5: both rare and common skin disease.
Norgett EE and Kelsell DP
Trends Mol Med vol. 8 (1) 
01-01-2002

Microarray and proteomic analysis of early gene regulation following exposure to skin irritants
Fletcher ST, Fentem JH, Basketter DA, Kelsell DP, Philpott M and Baker VA
Toxicology vol. 168 (1), 101-102.  
01-11-2001

Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31.
Di WL, Rugg EL, Leigh IM and Kelsell DP
J Invest Dermatol vol. 117 (4), 958-964.  
01-10-2001

Spotting prostate cancer.
Neill GW and Kelsell DP
Trends Mol Med vol. 7 (10) 
01-10-2001

The identification of mutations in keratin 9 using denaturing high performance liquid chromatography
Rugg EL, Wilgoss A, Stevens HP, Leigh IM and Kelsell DP
J Invest Dermatol vol. 117 (3), 779-779.  
01-09-2001

Functional analyses of connexin mutations in keratinocytes
Kelsell DP, Di W, Common JEA, Rugg EL and Leigh IM
J Invest Dermatol vol. 117 (3), 775-775.  
01-09-2001

Heterogeneity of genetic mutations in erythrokeratodermas
O'Toole EA, Di WL, Common J, Leigh IM and Kelsell DP
J Invest Dermatol vol. 117 (3), 797-797.  
01-09-2001

Microarray analysis of gene expression following exposure to skin irritants
Fletcher S, Baker V, Fentem J, Basketter D and Kelsell D
J Invest Dermatol vol. 117 (2), 528-528.  
01-08-2001

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.
Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B and Bitner-Glindzicz M
J Med Genet vol. 38 (8), 530-533.  
01-08-2001

Genetic analysis of the connexin-26 M34T variant
Griffith AJ
Journal of Medical Genetics, Bmj vol. 38 (7) 
01-07-2001

The two-hybrid cancer suicide pill
Fear MW and Kelsell DP
Trends in Molecular Medicine, Elsevier vol. 7 (5) 
01-05-2001

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.
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
Am J Hum Genet vol. 68 (5), 1264-1269.  
01-05-2001

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C and Kelsell DP
J Invest Dermatol vol. 116 (4), 606-609.  
01-04-2001

Connexin mutations in skin disease and hearing loss.
Kelsell DP, Di WL and Houseman MJ
Am J Hum Genet vol. 68 (3), 559-568.  
01-03-2001

Whats new in genodermatoses?
Fear MW, Hatsell SJ, Leigh IM and Kelsell DP
Keio J Med vol. 50 (1), 35-38.  
01-03-2001

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
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
Eur J Hum Genet vol. 9 (3), 197-203.  
01-03-2001

Identification Of Two New Pmp22 Mouse Mutants Using Large‐Scale Mutagenesis And A Novel Rapid Mapping Strategy
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
Journal of The Peripheral Nervous System, Wiley vol. 6 (1), 65-65.  
01-03-2001

Connexin 26 expression and mutation analysis in epidermal disease
Di WL, Common JEA and Kelsell DP
Cell Communication and Adhesion vol. 8 (4-6), 415-418.  
01-01-2001

Human diseases: clues to cracking the connexin code?
Kelsell DP, Dunlop J and Hodgins MB
Trends Cell Biol vol. 11 (1), 2-6.  
01-01-2001

R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? Reply
Kelsell D
Eur J Hum Genet vol. 9 (1), 70-70.  
01-01-2001

R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?
López-Bigas N, Rabionet R, Arbonés ML and Estivill X
Eur J Hum Genet vol. 9 (1) 
01-01-2001

Connexin 26 expression and mutation analysis in epidermal disease.
Di WL, Common JE and Kelsell DP
Cell Commun Adhes vol. 8 (4-6), 415-418.  
01-01-2001

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.
Davies D, KELSELL DP, Common JEA and Wei-Li D
Journal of Medical Genetics. vol. 41, 573-575.  
01-01-2001

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
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
J Med Genet vol. 38 (1), 20-25.  
01-01-2001

Recessive mutation in desmoplakin disrupts desmoplakin/intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
Kelsell DP, Norgett EE, Hatsell SJ, Common JEA, Cabezas JCR, Stevens HP, Carvajal-Huerta L and Leigh IM
J Invest Dermatol vol. 115 (6), 1170-1170.  
01-12-2000

A case of erythrokeratoderma variabilis without mutations in connexin 31
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
Brit J Dermatol vol. 143 (6), 1283-1287.  
01-12-2000

Connexin 26 expression and mutation analysis in epidermal disease
Di WL, Common JEA and Kelsell DP
Cell Adhesion and Communication vol. 8 (4-6), 415-418.  
01-12-2000

Wnt-16a, a Novel Wnt-16 Isoform, Which Shows Differential Expression in Adult Human Tissues
Fear MW, Kelsell DP, Spurr NK and Barnes MR
Biochemical and Biophysical Research Communications, Elsevier vol. 278 (3), 814-820.  
01-11-2000

Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas J-CR, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP and Kelsell DP
Human Molecular Genetics, Oxford University Press (Oup) vol. 9 (18), 2761-2766.  
01-11-2000

Mutations in GJB6 cause hidrotic ectodermal dysplasia
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
Nature Genetics, Springer Nature vol. 26 (2), 142-144.  
01-10-2000

Genetic basis of psoriasis
Kelsell DP
Trends in Molecular Medicine, Elsevier vol. 6 (8) 
01-08-2000

Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
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
Human Molecular Genetics, Oxford University Press (Oup) vol. 9 (12), 1865-1871.  
22-07-2000

The diffuse palmoplantar keratodermas
Hatsell SJ and Kelsell DP
Acta Dermatovenerologica Alpina, Panonica Et Adriatica vol. 9 (2), 47-55.  
18-07-2000

Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS and Leigh IM
European Journal of Human Genetics, Springer Nature vol. 8 (6), 468-468.  
01-06-2000

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping
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
European Journal of Human Genetics, Springer Nature vol. 8 (5), 372-380.  
01-05-2000

CIMPle cancer genetic profiles
Kelsell DP
Trends in Molecular Medicine, Elsevier vol. 6 (4) 
01-04-2000

Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping
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
American Journal of Human Genetics, Elsevier vol. 66 (3), 914-921.  
01-03-2000

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS and Leigh IM
European Journal of Human Genetics, Springer Nature vol. 8 (2), 141-144.  
01-02-2000

Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism
Talas U, Dunlop J, Khalaf S, Leigh IM and Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 114 (1), 165-170.  
01-01-2000

Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer
Hanby AM, Kelsell DP, Potts HW, Gillett CE, Bishop DT, Spurr NK and Barnes DM
International Journal of Cancer, Wiley vol. 88 (2), 204-208.  
01-01-2000

Identification of a Novel Mutation R42P in the Gap Junction Protein β-3 Associated with Autosomal Dominant Erythrokeratoderma Variabilis
Wilgoss A, Leigh IM, Kelsell DP, Barnes MR, Dopping-Hepenstal P, Eady RAJ, Walter JM and Kennedy CTC
Journal of Investigative Dermatology, Elsevier vol. 113 (6), 1119-1122.  
01-12-1999

Fine genetic mapping of diffuse non‐epidermolytic palmoplantar keratoderma to chromosome 12q11‐q13: exclusion of the mapped type II keratins
Kelsell DP, Stevens HP, Purkis PE, Talas U, Rustin MHA and Leigh IM
Experimental Dermatology, Wiley vol. 8 (5), 388-391.  
01-10-1999

Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25
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
Genomics, Elsevier vol. 59 (2), 234-242.  
01-07-1999

N-Terminal Deletion in a Desmosomal Cadherin Causes the Autosomal Dominant Skin Disease Striate Palmoplantar Keratoderma
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
Human Molecular Genetics, Oxford University Press (Oup) vol. 8 (6), 971-976.  
01-06-1999

Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia
Stevens HP, Choon SE, Hennies HC and Kelsell DP
British Journal of Dermatology, Oxford University Press (Oup) vol. 140 (5), 963-964.  
01-05-1999

The palmoplantar keratodermas: much more than palms and soles
Kelsell DP and Stevens HP
Trends in Molecular Medicine, Elsevier vol. 5 (3), 107-113.  
01-03-1999

Connexin mutations in deafness
White TW, Deans MR, Kelsell DP and Paul DL
Nature, Springer Nature vol. 394 (6694), 630-631.  
01-08-1998

Tissue Restricted Expression of Two Human Frzbs in Preadipocytes and Pancreas Volume 247, Number 2 (1998), pages 287–293
Hu E, Zhu Y, Fredrickson T, Barnes M, Kelsell D, Beeley L and Brooks D
Biochemical and Biophysical Research Communications, Elsevier vol. 248 (3), 940-943.  
01-07-1998

Tissue Restricted Expression of Two Human Frzbs in Preadipocytes and Pancreas
Hu E, Zhu Y, Fredrickson T, Barnes M, Kelsell D, Beeley L and Brooks D
Biochemical and Biophysical Research Communications, Elsevier vol. 247 (2), 287-293.  
01-06-1998

Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters.
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
Cancer Research vol. 58 (5), 1004-1012.  
01-03-1998

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ and Van Camp G
Journal of Medical Genetics, Bmj vol. 35 (2) 
01-02-1998

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF and Leigh IM
Nature, Springer Nature vol. 387 (6628), 80-83.  
01-05-1997

Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families
Xu C, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S, Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E
Genes Chromosomes and Cancer, Wiley vol. 18 (2), 102-110.  
01-02-1997

Gene mapping using somatic cell hybrids.
Kelsell DP and Spurr NK
vol. 68, 45-52.  
01-01-1997

Gene Mapping Using Somatic Cell Hybrids
Kelsell DP and Spurr NK
In Gene Isolation and Mapping Protocols, Springer Nature 45-52.  
19-10-1996

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
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
Nature Genetics, Springer Nature vol. 13 (4), 450-457.  
01-08-1996

Combined loss of BRCA1/BRCA2 in grade 3 breast carcinomas
Kelsell DP, Spurr NK, Barnes DM, Gusterson B and Bishop DT
The Lancet, Elsevier vol. 347 (9014), 1554-1555.  
01-06-1996

Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC )
Kelsell DP, Risk JM, Leigh IM, Stevens HP, Ellis A, Hennies HC, Reis A, Weissenbach J, Bishop DT, Spurr NK and Field JK
Human Molecular Genetics, Oxford University Press (Oup) vol. 5 (6), 857-860.  
01-06-1996

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
Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS and Leigh IM
Jama Dermatology, American Medical Association (Ama) vol. 132 (6), 640-651.  
01-06-1996

Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RPR, Spurr NK and Leigh IM
Journal of Investigative Dermatology, Elsevier vol. 106 (4), 795-797.  
01-04-1996

Punctate palmoplantar keratoderma and malignancy in a four-generation family
STEVENS HP, KELSKLL DP, LEIGH IM, OSTLERE LS, MACDERMOT KD and RUSTIN MHA
British Journal of Dermatology, Oxford University Press (Oup) vol. 134 (4), 720-726.  
01-04-1996

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.
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
American Journal of Human Genetics vol. 58 (2), 271-280.  
01-02-1996

Identification of the breast cancer susceptibility gene BRCA2
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
Nature, Springer Nature vol. 379 (6567), 749-749.  
01-02-1996

Thiopurine Methyltransferase Pharmacogenetics: Human Gene Cloning and Characterization of a Common Polymorphism
Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, Spurr N, Lennard L, Wieben E and Weinshilboum R
Dna and Cell Biology, Mary Ann Liebert vol. 15 (1), 17-30.  
01-01-1996

Identification of the breast cancer susceptibility gene BRCA2
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
Nature, Springer Nature vol. 378 (6559), 789-792.  
01-12-1995

High allele loss rates at I7q I2‐q2I in breast and ovarian tumors from BRCAI‐linked families
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
Genes Chromosomes and Cancer, Wiley vol. 13 (3), 203-210.  
01-07-1995

Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping
KELSELL DP, ROOKE L, WARNE D, BOUZYK M, CULLIN L, COX S, WEST L, POVEY S and SPURR NK
Annals of Human Genetics, Wiley vol. 59 (2), 233-241.  
01-04-1995

An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.
Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, Ponder BA, Weber BL, Garber JE and Birch JM
American Journal of Human Genetics vol. 56 (1), 254-264.  
01-01-1995

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity
Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM and Spurr NK
Human Molecular Genetics, Oxford University Press (Oup) vol. 4 (6), 1021-1025.  
01-01-1995

Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
Easton DF, Ford D and Bishop DT
American Journal of Human Genetics vol. 56 (1), 265-271.  
01-01-1995

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
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
Human Molecular Genetics, Oxford University Press (Oup) vol. 4 (10), 1875-1881.  
01-01-1995

Risks of cancer in BRCA1-mutation carriers
Ford D, Easton DF, Bishop DT, Narod SA and Goldgar DE
The Lancet, Elsevier vol. 343 (8899), 692-695.  
01-03-1994

Localization of a Second NM23 Gene, NME2, to Chromosome 17q21-q22
Kelsell DP, Black DM, Solomon E and Spurr NK
Genomics, Elsevier vol. 17 (2), 522-524.  
01-08-1993

Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17.
Spurr NK, Kelsell DP, Black DM, Murday VA, Turner G, Crockford GP, Solomon E, Cartwright RA and Bishop DT
American Journal of Human Genetics vol. 52 (4), 777-785.  
01-04-1993

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.
Easton DF, Bishop DT, Ford D and Crockford GP
American Journal of Human Genetics vol. 52 (4), 678-701.  
01-04-1993

Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1
Keisell DP, Black DM, Bishop DT and Spurr NK
Human Molecular Genetics, Oxford University Press (Oup) vol. 2 (11), 1823-1828.  
01-01-1993

Assignment of eight human genomic DNA sequences detecting high frequency restriction fragment length polymorphisms
SPURR NK, KELSELL D, ROOKE L, CAVALLI‐SFORZA LL, BOWCOCK A and FEDER J
Annals of Human Genetics, Wiley vol. 55 (2), 141-150.  
01-05-1991

N‐Cadherin Gene Maps to Human Chromosome 18 and Is Not Linked to the E‐Cadherin Gene
Walsh FS, Barton CH, Putt W, Moore SE, Kelsell D, Spurr N and Goodfellow PN
Journal of Neurochemistry, Wiley vol. 55 (3), 805-812.  
01-09-1990

An Xmnl RFLP detected with a probe for the CYP2E gene locus on chromosome 10
Kelsell DP, Wolf CR and Spurr NK
Nucleic Acids Research, Oxford University Press (Oup) vol. 18 (10), 3111-3111.  
01-01-1990