Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis
Journal of Investigative Dermatology
Niaouris, A. and Hernández-Cordero, A. and Haddad, S. and Hassi, N.K. and Benzian-Olsson, N. and Bugarin Diz, C. and Burden, A.D. and Cooper, H.L. and Griffiths, C.E.M. and Parslew, R. and Pink, A.E. and Reynolds, N.J. and Wahie, S. and Warren, R.B. and Wright, A. and Simpson, M. and Baum, P. and Visvanathan, S. and Barker, J.N. and Smith, C.H. and Capon, F. and Abraham, T. and Ali, M. and August, S. and Baudry, D. and Becher, G. and Bewley, A. and Cornelius, V. and Dunnill, G. and Ferguson, A. and Ghaffar, S. and Ingram, J. and Kavakleiva, S. and Kelly, S. and Khorshid, M. and Lachmann, H. and Ladoyanni, E. and McAteer, H. and McKenna, J. and Meynell, F. and Levell, N. and Patel, P. and Pushparajah, A. and Sinclair, C. and Wachsmuth, R. and Wilson, R.
DOI: 10.1016/j.jid.2022.07.031
2023

Single-cell analysis of psoriasis resolution reveals an inflammatory fibroblast state targeted by IL-23 blockade
medRxiv
Francis, L. and McCluskey, D. and Ganier, C. and Jiang, T. and Du-Harpur, X. and Gabriel, J. and Dhami, P. and Kamra, Y. and Visvanathan, S. and Barker, J.N. and Smith, C.H. and Capon, F. and Mahil, S.K.
DOI: 10.1101/2023.09.11.23295356
2023

A viewpoint on the genetic determinants of generalised pustular psoriasis
Experimental Dermatology
Capon, F.
DOI: 10.1111/exd.14746
2023

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets
medRxiv
Dand, N. and Stuart, P.E. and Bowes, J. and Ellinghaus, D. and Nititham, J. and Saklatvala, J.R. and Teder-Laving, M. and Thomas, L.F. and Traks, T. and Uebe, S. and Assmann, G. and Baudry, D. and Behrens, F. and Billi, A.C. and Brown, M.A. and Burkhardt, H. and Capon, F. and Chung, R. and Curtis, C.J. and Duckworth, M. and Ellinghaus, E. and FitzGerald, O. and Gerdes, S. and Griffiths, C.E.M. and Gulliver, S. and Helliwell, P. and Ho, P. and Hoffmann, P. and Holmen, O.L. and Huang, Z.-M. and Hveem, K. and Jadon, D. and Köhm, M. and Kraus, C. and Lamacchia, C. and Lee, S.H. and Ma, F. and Mahil, S.K. and McHugh, N. and McManus, R. and Modalsli, E.H. and Nissen, M.J. and Nöthen, M. and Oji, V. and Oksenberg, J.R. and Patrick, M.T. and Perez-White, B.E. and Ramming, A. and Rech, J. and Rosen, C. and Sarkar, M.K. and Schett, G. and Schmidt, B. and Tejasvi, T. and Traupe, H. and Voorhees, J.J. and Wacker, E.M. and Warren, R.B. and Wasikowski, R. and Weidinger, S. and Wen, X. and Zhang, Z. and Barton, A. and Chandran, V. and Esko, T. and Foerster, J. and Franke, A. and Gladman, D.D. and Gudjonsson, J.E. and Gulliver, W. and Hüffmeier, U. and Kingo, K. and Kõks, S. and Liao, W. and L?set, M. and Mägi, R. and Nair, R.P. and Rahman, P. and Reis, A. and Smith, C.H. and Meglio, P.D. and Barker, J.N. and Tsoi, L.C. and Simpson, M.A. and Elder, J.T.
DOI: 10.1101/2023.10.04.23296543
2023

The interleukin 1 receptor antagonist anakinra to reduce disease severity of palmoplantar pustulosis in adults: APRICOT RCT and PLUM mechanistic study
Efficacy and Mechanism Evaluation
Suzie Cro and Victoria Cornelius and Francesca Capon and Jonathan Barker and David Burden and Christopher Griffiths and Helen Jane Lachmann and Helen McAteer and Prakash Patel and Andrew Pink and Nick Reynolds and Richard Warren and Catherine Smith
DOI: 10.3310/MXPK2427
03/2022

Anakinra for palmoplantar pustulosis: results from a randomized, double-blind, multicentre, two-staged, adaptive placebo-controlled trial (APRICOT)*
British Journal of Dermatology
Cro, S. and Cornelius, V.R. and Pink, A.E. and Wilson, R. and Pushpa-Rajah, A. and Patel, P. and Abdul-Wahab, A. and August, S. and Azad, J. and Becher, G. and Chapman, A. and Dunnill, G. and Ferguson, A.D. and Fogo, A. and Ghaffar, S.A. and Ingram, J.R. and Kavakleiva, S. and Ladoyanni, E. and Leman, J.A. and Macbeth, A.E. and Makrygeorgou, A. and Parslew, R. and Ryan, A.J. and Sharma, A. and Shipman, A.R. and Sinclair, C. and Wachsmuth, R. and Woolf, R.T. and Wright, A. and McAteer, H. and Barker, J.N.W.N. and Burden, A.D. and Griffiths, C.E.M. and Reynolds, N.J. and Warren, R.B. and Lachmann, H.J. and Capon, F. and Smith, C.H. and Altamura, D. and Piguet, V. and Verdolini, R. and Wallace, M. and Sundararaj, K. and Arujuna, N. and Fleming, C. and Lamb, R. and Dodds, J. and Baryschpolec, S. and Cooper, H.
DOI: 10.1111/bjd.20653
2022

Single-cell analysis implicates T_H17-to-T_H2 cell plasticity in the pathogenesis of palmoplantar pustulosis
Journal of Allergy and Clinical Immunology
McCluskey, D. and Benzian-Olsson, N. and Mahil, S.K. and Hassi, N.K. and Wohnhaas, C.T. and Burden, A.D. and Griffiths, C.E.M. and Ingram, J.R. and Levell, N.J. and Parslew, R. and Pink, A.E. and Reynolds, N.J. and Warren, R.B. and Visvanathan, S. and Baum, P. and Barker, J.N. and Smith, C.H. and Capon, F.
DOI: 10.1016/j.jaci.2022.04.027
2022

Differences in Clinical Features and Comorbid Burden between HLA-C*06:02 Carrier Groups in >9,000 People with Psoriasis
Journal of Investigative Dermatology
Douroudis, K. and Ramessur, R. and Barbosa, I.A. and Baudry, D. and Duckworth, M. and Angit, C. and Capon, F. and Chung, R. and Curtis, C.J. and Di Meglio, P. and Goulding, J.M.R. and Griffiths, C.E.M. and Lee, S.H. and Mahil, S.K. and Parslew, R. and Reynolds, N.J. and Shipman, A.R. and Warren, R.B. and Yiu, Z.Z.N. and Simpson, M.A. and Barker, J.N. and Dand, N. and Smith, C.H. and Evans, I. and Murphy, R. and McPherson, T. and Kleyn, E. and Laws, P. and Becher, G. and Bewley, A. and Rashid, A. and Alabas, O. and Morrison, S. and Ahmed, S. and Pearson, E. and Richards, J. and Mackenzie, T. and Kirby, B. and Burden, D. and Lawson, L. and McElhone, K. and Ormerod, A. and Owen, C. and Aldoori, N. and Ali, M. and Anstey, A. and Antony, F. and Archer, C. and August, S. and Balasubramaniam, P. and Baxter, K. and Bonsall, A. and Brown, V. and Burova, K. and Butt, A. and Caswell, M. and Cliff, S. and Costache, M. and Darne, S. and Davies, E. and DeGiovanni, C. and Desai, T. and DeSilva, B. and Diba, V. and Domanne, E. and Dymond, H. and Fahy, C. and Ferguson, L. and Gkini, M.-A. and Godwin, A. and Hammonds, F. and Johnson, S. and Joseph, T. and Kalavala, M. and Khorshid, M. and Labinoti, L. and Lawson, N. and Layton, A. and Lees, T. and Levell, N. and Lewis, H. and Lyon, C. and McBride, S. and McCormack, S. and McKenna, K. and Mellor, S. and Norris, P. and Popli, U. and Perera, G. and Ponnambath, N. and Ramsay, H. and Ranasinghe, A. and Reeken, S. and Rose, R. and Rotarescu, R. and Salvary, I. and Sands, K. and Sinha, T. and Stefanescu, S. and Sundararaj, K. and Taghipour, K. and Taylor, M. and Thomson, M. and Topliffe, J. and Verdolini, R. and Wachsmuth, R. and Wade, M. and Wahie, S. and Walsh, S. and Walton, S. and Wilcox, L. and Wright, A.
DOI: 10.1016/j.jid.2021.08.446
2022

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center
Journal of the American Heart Association
Peet, C.J. and Rowczenio, D. and Omoyinmi, E. and Papadopoulou, C. and Mapalo, B.R.R. and Wood, M.R. and Capon, F. and Lachmann, H.J.
DOI: 10.1161/JAHA.121.024931
2022

Vaccine hesitancy and access to psoriasis care during the COVID-19 pandemic: findings from a global patient-reported cross-sectional survey
British Journal of Dermatology
Bechman, K. and Cook, E.S. and Dand, N. and Yiu, Z.Z.N. and Tsakok, T. and Meynell, F. and Coker, B. and Vincent, A. and Bachelez, H. and Barbosa, I. and Brown, M.A. and Capon, F. and Contreras, C.R. and De La Cruz, C. and Meglio, P.D. and Gisondi, P. and Jullien, D. and Kelly, J. and Lambert, J. and Lancelot, C. and Langan, S.M. and Mason, K.J. and McAteer, H. and Moorhead, L. and Naldi, L. and Norton, S. and Puig, L. and Spuls, P.I. and Torres, T. and Urmston, D. and Vesty, A. and Warren, R.B. and Waweru, H. and Weinman, J. and Griffiths, C.E.M. and Barker, J.N. and Smith, C.H. and Galloway, J.B. and Mahil, S.K.
DOI: 10.1111/bjd.21042
2022

New genetic and clinical features of neonatal inflammatory skin and bowel disease 1
British Journal of Dermatology
Capon, F.
DOI: 10.1111/bjd.21589
2022

Vaccine hesitancy and access to psoriasis care in the COVID-19 pandemic: findings from a global patient-reported cross-sectional survey
medRxiv
Bechman, K. and Cook, E.S. and Dand, N. and Yiu, Z.Z.N. and Tsakok, T. and Meynell, F. and Coker, B. and Vincent, A. and Bachelez, H. and Barbosa, I. and Brown, M.A. and Capon, F. and Contreras, C.R. and De La Cruz, C. and Di Meglio, P. and Gisondi, P. and Jullien, D. and Kelly, J. and Lambert, J. and Lancelot, C. and Langan, S.M. and Mason, K.J. and McAteer, H. and Moorhead, L. and Naldi, L. and Norton, S. and Puig, L. and Spuls, P. and Torres, T. and Urmston, D. and Vesty, A. and Warren, R.B. and Waweru, H. and Weinman, J. and Griffiths, C.E.M. and Barker, J.N. and Smith, C.H. and Galloway, J.B. and Mahil, S.K.
DOI: 10.1101/2022.01.20.22269546
2022

Risk-mitigating behaviours in people with inflammatory skin and joint disease during the COVID-19 pandemic differ by treatment type: a cross-sectional patient survey*
British Journal of Dermatology
Mahil, S.K. and Yates, M. and Langan, S.M. and Yiu, Z.Z.N. and Tsakok, T. and Dand, N. and Mason, K.J. and McAteer, H. and Meynell, F. and Coker, B. and Vincent, A. and Urmston, D. and Vesty, A. and Kelly, J. and Lancelot, C. and Moorhead, L. and Bachelez, H. and Bruce, I.N. and Capon, F. and Contreras, C.R. and Cope, A.P. and De La Cruz, C. and Di Meglio, P. and Gisondi, P. and Hyrich, K. and Jullien, D. and Lambert, J. and Marzo-Ortega, H. and McInnes, I. and Naldi, L. and Norton, S. and Puig, L. and Sengupta, R. and Spuls, P. and Torres, T. and Warren, R.B. and Waweru, H. and Weinman, J. and Griffiths, C.E.M. and Barker, J.N. and Brown, M.A. and Galloway, J.B. and Smith, C.H.
DOI: 10.1111/bjd.19755
2021

Factors associated with adverse COVID-19 outcomes in patients with psoriasis—insights from a global registry–based study
Journal of Allergy and Clinical Immunology
Mahil, S.K. and Dand, N. and Mason, K.J. and Yiu, Z.Z.N. and Tsakok, T. and Meynell, F. and Coker, B. and McAteer, H. and Moorhead, L. and Mackenzie, T. and Rossi, M.T. and Rivera, R. and Mahe, E. and Carugno, A. and Magnano, M. and Rech, G. and Balogh, E.A. and Feldman, S.R. and De La Cruz, C. and Choon, S.E. and Naldi, L. and Lambert, J. and Spuls, P. and Jullien, D. and Bachelez, H. and McMahon, D.E. and Freeman, E.E. and Gisondi, P. and Puig, L. and Warren, R.B. and Di Meglio, P. and Langan, S.M. and Capon, F. and Griffiths, C.E.M. and Barker, J.N. and Smith, C.H. and Shah, A. and Barea, A. and Romero-Maté, A. and Singapore, A. and Paolino, A. and Mwale, A. and Morales Callaghan, A.M. and Martinez, A. and DeCrescenzo, A. and Pink, A.E. and Jones, A. and Sergeant, A. and Essex, A. and Bewley, A. and Makrygeorgou, A. and van Huizen, A. and Pérez-Suárez, B. and Farida, B. and Claréus, B.W. and Prims, C.T. and Davis, C. and Quinlan, C. and Maybury, C. and Cesar, G.A. and Barclay, C. and Greco, C. and Brassard, D. and Cummings, D. and Kolli, D. and Descamps, V. and Genao, D.R. and Carras, E. and Hawryluk, E. and Martínez-García, E. and Klujszo, E. and Dwyer, E. and Toni, E. and Sonkoly, E. and Loayza, E. and Daudén, E. and Valenzuela, F. and Popov, G. and King, G. and Celine, G. and Aparicio, G. and Johnston, G.A. and Cardozo, G.A. and Pearson, I. and Yanguas, I. and Weisman, J. and Carolan, J.E. and Hughes, J. and Ortiz-Salvador, J.-M. and Carrascosa, J.-M. and Schwartz, J.J. and Jackson, K. and Kerisit, K.G. and Wu, K. and Asfour, L. and de Graaf, L. and Lesort, C. and Meuleman, L. and Eidsmo, L. and Skov, L. and Gribben, L. and Rustin, M. and Velasco, M. and Panchal, M. and Lakhan, M. and Franco, M.D. and Svensson, M.-L. and Vandaele, M. and Marovt, M. and Zargari, O. and De Caso, P. and Varela, P. and Jenkin, P. and Phan, C. and Hampton, P. and Goldsmith, P. and Bak, R. and Speeckaert, R. and Romiti, R. and Woolf, R. and Mercado-Seda, R. and Khatun, R. and Ceovic, R. and Taberner, R. and Cohen, R.W. and Stefanescu, S. and Kirk, S. and Reeken, S. and Ayob, S. and Pérez-Barrio, S. and Piaserico, S. and Hoey, S. and Torres, T. and Talme, T. and Desai, T.V. and van Geest, A.J. and King, V. and Di Lernia, V. and Koreja, Z. and Hasab, V.Z.
DOI: 10.1016/j.jaci.2020.10.007
2021

Erratum: Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease (The American Journal of Human Genetics (2020) 107(3) (539–543), (S0002929720302299), (10.1016/j.ajhg.2020.06.020))
American Journal of Human Genetics
Vergnano, M. and Mockenhaupt, M. and Benzian-Olsson, N. and Paulmann, M. and Grys, K. and Mahil, S.K. and Chaloner, C. and Barbosa, I.A. and August, S. and Burden, A.D. and Choon, S.-E. and Cooper, H. and Navarini, A.A. and Reynolds, N.J. and Wahie, S. and Warren, R.B. and Wright, A. and Abraham, T. and Ali, M. and Baudry, D. and Bewley, A. and Griffiths, C.E.M. and Ingram, J. and Kelly, S. and Korshid, M. and Ladoyanni, E. and McKenna, J. and Meynell, F. and Parslew, R. and Patel, P. and Pushparajah, A. and Reynolds, N. and Smith, C. and Huffmeier, U. and Baum, P. and Visvanathan, S. and Barker, J.N. and Smith, C.H. and Capon, F.
DOI: 10.1016/j.ajhg.2021.03.001
2021

Describing the burden of the COVID-19 pandemic in people with psoriasis: Findings from a global cross-sectional study
medRxiv
Mahil, S.K. and Yates, M. and Yiu, Z.Z.N. and Langan, S.M. and Tsakok, T. and Dand, N. and Mason, K.J. and McAteer, H. and Meynell, F. and Coker, B. and Vincent, A. and Urmston, D. and Vesty, A. and Kelly, J. and Lancelot, C. and Moorhead, L. and Bachelez, H. and Capon, F. and Contreras, C.R. and de la Cruz, C. and Di Meglio, P. and Gisondi, P. and Jullien, D. and Lambert, J. and Naldi, L. and Norton, S. and Puig, L. and Spuls, P. and Torres, T. and Warren, R.B. and Waweru, H. and Weinman, J. and Brown, M.A. and Galloway, J.B. and Griffiths, C.M. and Barker, J.N. and Smith, C.
DOI: 10.1101/2021.05.04.21256507
2021

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
American Journal of Human Genetics
Vergnano, M. and Mockenhaupt, M. and Benzian-Olsson, N. and Paulmann, M. and Grys, K. and Mahil, S.K. and Chaloner, C. and Barbosa, I.A. and August, S. and Burden, A.D. and Choon, S.-E. and Cooper, H. and Navarini, A.A. and Reynolds, N.J. and Wahie, S. and Warren, R.B. and Wright, A. and Abraham, T. and Ali, M. and Baudry, D. and Bewley, A. and Ingram, J. and Kelly, S. and Korshid, M. and Ladoyanni, E. and McKenna, J. and Meynell, F. and Parslew, R. and Patel, P. and Pushparajah, A. and Reynolds, N. and Smith, C. and Warren, R. and Huffmeier, U. and Baum, P. and Visvanathan, S. and Barker, J.N. and Smith, C.H. and Capon, F.
DOI: 10.1016/j.ajhg.2020.06.020
2020

Psoriasis and genetics
Acta Dermato-Venereologica
Dand, N. and Mahil, S.K. and Capon, F. and Smith, C.H. and Simpson, M.A. and Barker, J.N.
DOI: 10.2340/00015555-3384
2020

A randomised placebo controlled trial of anakinra for treating pustular psoriasis: Statistical analysis plan for stage two of the APRICOT trial
Trials
Cro, S. and Patel, P. and Barker, J. and Burden, D.A. and Griffiths, C.E.M. and Lachmann, H.J. and Reynolds, N.J. and Warren, R.B. and Capon, F. and Smith, C. and Cornelius, V.
DOI: 10.1186/s13063-020-4103-z
2020

Association of clinical and demographic factors with the severity of palmoplantar pustulosis
JAMA Dermatology
Benzian-Olsson, N. and Dand, N. and Chaloner, C. and Bata-Csorgo, Z. and Borroni, R. and David Burden, A. and Cooper, H.L. and Cornelius, V. and Cro, S. and Dasandi, T. and Griffiths, C.E.M. and Kingo, K. and Koks, S. and Lachmann, H. and McAteer, H. and Meynell, F. and Mrowietz, U. and Parslew, R. and Patel, P. and Pink, A.E. and Reynolds, N.J. and Tanew, A. and Torz, K. and Trattner, H. and Wahie, S. and Warren, R.B. and Wright, A. and Barker, J.N. and Navarini, A.A. and Smith, C.H. and Capon, F.
DOI: 10.1001/jamadermatol.2020.3275
2020

IL-36 Promotes Systemic IFN-I Responses in Severe Forms of Psoriasis
Journal of Investigative Dermatology
Catapano, M. and Vergnano, M. and Romano, M. and Mahil, S.K. and Choon, S.-E. and Burden, A.D. and Young, H.S. and Carr, I.M. and Lachmann, H.J. and Lombardi, G. and Smith, C.H. and Ciccarelli, F.D. and Barker, J.N. and Capon, F.
DOI: 10.1016/j.jid.2019.08.444
2020

Global reporting of cases of COVID-19 in psoriasis and atopic dermatitis: an opportunity to inform care during a pandemic
British Journal of Dermatology
Mahil, S.K. and Yiu, Z.Z.N. and Mason, K.J. and Dand, N. and Coker, B. and Wall, D. and Fletcher, G. and Bosma, A. and Capon, F. and Iversen, L. and Langan, S.M. and Di Meglio, P. and Musters, A.H. and Prieto-Merino, D. and Tsakok, T. and Warren, R.B. and Flohr, C. and Spuls, P.I. and Griffiths, C.E.M. and Barker, J. and Irvine, A.D. and Smith, C.H.
DOI: 10.1111/bjd.19161
2020

Risk mitigating behaviours in people with inflammatory joint and skin disease during the COVID-19 pandemic differ by treatment type: A cross-sectional patient survey
medRxiv
Mahil, S.K. and Yates, M. and Langan, S.M. and Yiu, Z.Z.N. and Tsakok, T. and Dand, N. and Mason, K.J. and McAteer, H. and Meynell, F. and Coker, B. and Vincent, A. and Urmston, D. and Vesty, A. and Kelly, J. and Lancelot, C. and Moorhead, L. and Bachelez, H. and Bruce, I.N. and Capon, F. and Contreras, C.R. and Cope, A.P. and de la Cruz, C. and Di Meglio, P. and Gisondi, P. and Hyrich, K. and Jullien, D. and Lambert, J. and Waweru, H. and Marzo-Ortega, H. and McKinnes, I. and Naldi, L. and Norton, S. and Puig, L. and Sengupta, R. and Spuls, P. and Torres, T. and Warren, R.B. and Weinman, J. and Griffiths, C.M. and Barker, J.N. and Brown, M.A. and Galloway, J.B. and Smith, C.H.
DOI: 10.1101/2020.11.05.20226662
2020

Clinical and genetic differences between pustular psoriasis subtypes
Journal of Allergy and Clinical Immunology
Twelves, S. and Mostafa, A. and Dand, N. and Burri, E. and Farkas, K. and Wilson, R. and Cooper, H.L. and Irvine, A.D. and Oon, H.H. and Kingo, K. and Köks, S. and Mrowietz, U. and Puig, L. and Reynolds, N. and Tan, E.S.-T. and Tanew, A. and Torz, K. and Trattner, H. and Valentine, M. and Wahie, S. and Warren, R.B. and Wright, A. and Bata-Csörg?, Z. and Szell, M. and Griffiths, C.E.M. and Burden, A.D. and Choon, S.-E. and Smith, C.H. and Barker, J.N. and Navarini, A.A. and Capon, F.
DOI: 10.1016/j.jaci.2018.06.038
2019

Reply
Journal of Allergy and Clinical Immunology
Navarini, A.A. and Smith, C.H. and Barker, J.N. and Capon, F.
DOI: 10.1016/j.jaci.2018.11.010
2019

A small population, randomised, placebo-controlled trial to determine the efficacy of anakinra in the treatment of pustular psoriasis: Study protocol for the APRICOT trial
Trials
Cornelius, V. and Wilson, R. and Cro, S. and Barker, J. and Burden, D. and Griffiths, C.E.M. and Lachmann, H. and McAteer, H. and Reynolds, N. and Pink, A. and Warren, R.B. and Capon, F. and Smith, C.
DOI: 10.1186/s13063-018-2841-y
2018

The heterogeneous mutational landscape of pustular psoriasis
British Journal of Dermatology
Capon, F.
DOI: 10.1111/bjd.16257
2018

Interleukin-36 promotes systemic Type-I IFN responses in severe psoriasis
bioRxiv
Catapano, M. and Vergnano, M. and Romano, M. and Mahil, S.K. and Choon, S.-E. and Burden, A.D. and Young, H.S. and Carr, I.M. and Lachmann, H.J. and Lombardi, G. and Smith, C.H. and Ciccarelli, F.D. and Barker, J.N. and Capon, F.
DOI: 10.1101/496851
2018

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling
Human Molecular Genetics
Dand, N. and Mucha, S. and Tsoi, L.C. and Mahil, S.K. and Stuart, P.E. and Arnold, A. and Baurecht, H. and Burden, A.D. and Duffin, K.C. and Chandran, V. and Curtis, C.J. and Das, S. and Ellinghaus, D. and Ellinghaus, E. and Enerback, C. and Esko, T. and Gladman, D.D. and Griffiths, C.E.M. and Gudjonsson, J.E. and Hoffman, P. and Homuth, G. and Hüffmeier, U. and Krueger, G.G. and Laudes, M. and Lee, S.H. and Lieb, W. and Lim, H.W. and Löhr, S. and Mrowietz, U. and Müller-Nurayid, M. and Nöthen, M. and Peters, A. and Rahman, P. and Reis, A. and Reynolds, N.J. and Rodriguez, E. and Schmidt, C.O. and Spain, S.L. and Strauch, K. and Tejasvi, T. and Voorhees, J.J. and Warren, R.B. and Weichenthal, M. and Weidinger, S. and Zawistowski, M. and Nair, R.P. and Capon, F. and Smith, C.H. and Trembath, R.C. and Abecasis, G.R. and Elder, J.T. and Franke, A. and Simpson, M.A. and Barker, J.N.
DOI: 10.1093/hmg/ddx328
2017

European consensus statement on phenotypes of pustular psoriasis
Journal of the European Academy of Dermatology and Venereology
Navarini, A.A. and Burden, A.D. and Capon, F. and Mrowietz, U. and Puig, L. and Köks, S. and Kingo, K. and Smith, C. and Barker, J.N. and Bachelez, H. and Chiricozzi, A. and Costanzo, A. and Eyerich, K. and French, L.E. and Ghoreschi, K. and Gilliet, M. and Girolomoni, G. and Gniadecki, R. and Griffiths, C. and Koh, H.Y. and Lipsker, D. and Naldi, L. and Prans, E. and Prinz, J. and Reich, K. and Röcken, M. and Skov, L. and Sorin, G. and St?hle, M. and Stingl, G. and Van de Kerkhof, P. and Warren, R.
DOI: 10.1111/jdv.14386
2017

Juvenile generalized pustular psoriasis is a chronic recalcitrant disease: an analysis of 27 patients seen in a tertiary hospital in Johor, Malaysia
International Journal of Dermatology
Lau, B.-W. and Lim, D.-Z. and Capon, F. and Barker, J.N. and Choon, S.-E.
DOI: 10.1111/ijd.13489
2017

An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target
Science Translational Medicine
Mahil, S.K. and Catapano, M. and Di Meglio, P. and Dand, N. and Ahlfors, H. and Carr, I.M. and Smith, C.H. and Trembath, R.C. and Peakman, M. and Wright, J. and Ciccarelli, F.D. and Barker, J.N. and Capon, F.
DOI: 10.1126/scitranslmed.aan2514
2017

The genetic basis of psoriasis
International Journal of Molecular Sciences
Capon, F.
DOI: 10.3390/ijms18122526
2017

Update on psoriasis immunopathogenesis and targeted immunotherapy
Seminars in Immunopathology
Mahil, S.K. and Capon, F. and Barker, J.N.
DOI: 10.1007/s00281-015-0539-8
2016

Genome-Wide Pathway Analysis Identifies Genetic Pathways Associated with Psoriasis
Journal of Investigative Dermatology
Aterido, A. and Julià, A. and Ferrándiz, C. and Puig, L. and Fonseca, E. and Fernández-López, E. and Dauden, E. and Sánchez-Carazo, J.L. and López-Estebaranz, J.L. and Moreno-Ramírez, D. and Vanaclocha, F. and Herrera, E. and de la Cueva, P. and Dand, N. and Palau, N. and Alonso, A. and López-Lasanta, M. and Tortosa, R. and García-Montero, A. and Codó, L. and Gelpí, J.L. and Bertranpetit, J. and Absher, D. and Capon, F. and Myers, R.M. and Barker, J.N. and Marsal, S.
DOI: 10.1016/j.jid.2015.11.026
2016

AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production
Journal of Investigative Dermatology
Mahil, S.K. and Twelves, S. and Farkas, K. and Setta-Kaffetzi, N. and Burden, A.D. and Gach, J.E. and Irvine, A.D. and Képíró, L. and Mockenhaupt, M. and Oon, H.H. and Pinner, J. and Ranki, A. and Seyger, M.M.B. and Soler-Palacin, P. and Storan, E.R. and Tan, E.S. and Valeyrie-Allanore, L. and Young, H.S. and Trembath, R.C. and Choon, S.-E. and Szell, M. and Bata-Csorgo, Z. and Smith, C.H. and Di Meglio, P. and Barker, J.N. and Capon, F.
DOI: 10.1016/j.jid.2016.06.618
2016

Activating CARD14 mutations are associated with generalized pustular psoriasis but rarely account for familial recurrence in psoriasis vulgaris
Journal of Investigative Dermatology
Berki, D.M. and Liu, L. and Choon, S.-E. and Burden, A.D. and Griffiths, C.E.M. and Navarini, A.A. and Tan, E.S. and Irvine, A.D. and Ranki, A. and Ogo, T. and Petrof, G. and Mahil, S.K. and Duckworth, M. and Allen, M.H. and Vito, P. and Trembath, R.C. and McGrath, J. and Smith, C.H. and Capon, F. and Barker, J.N.
DOI: 10.1038/jid.2015.288
2015

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis: To the editor
Journal of Allergy and Clinical Immunology
Hussain, S. and Berki, D.M. and Choon, S.-E. and Burden, A.D. and Allen, M.H. and Arostegui, J.I. and Chaves, A. and Duckworth, M. and Irvine, A.D. and Mockenhaupt, M. and Navarini, A.A. and Seyger, M.M.B. and Soler-Palacin, P. and Prins, C. and Valeyrie-Allanore, L. and Vicente, M.A. and Trembath, R.C. and Smith, C.H. and Barker, J.N. and Capon, F.
DOI: 10.1016/j.jaci.2014.09.043
2015

Genetics of Psoriasis
Dermatologic Clinics
Mahil, S.K. and Capon, F. and Barker, J.N.
DOI: 10.1016/j.det.2014.09.001
2015

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci
Nature Communications
Tsoi, L.C. and Spain, S.L. and Ellinghaus, E. and Stuart, P.E. and Capon, F. and Knight, J. and Tejasvi, T. and Kang, H.M. and Allen, M.H. and Lambert, S. and Stoll, S.W. and Weidinger, S. and Gudjonsson, J.E. and Koks, S. and Kingo, K. and Esko, T. and Das, S. and Metspalu, A. and Weichenthal, M. and Enerback, C. and Krueger, G.G. and Voorhees, J.J. and Chandran, V. and Rosen, C.F. and Rahman, P. and Gladman, D.D. and Reis, A. and Nair, R.P. and Franke, A. and Barker, J.N.W.N. and Abecasis, G.R. and Trembath, R.C. and Elder, J.T.
DOI: 10.1038/ncomms8001
2015

AP1S3 mutations are associated with pustular psoriasis and impaired toll-like receptor 3 trafficking
American Journal of Human Genetics
Setta-Kaffetzi, N. and Simpson, M.A. and Navarini, A.A. and Patel, V.M. and Lu, H.-C. and Allen, M.H. and Duckworth, M. and Bachelez, H. and Burden, A.D. and Choon, S.-E. and Griffiths, C.E.M. and Kirby, B. and Kolios, A. and Seyger, M.M.B. and Prins, C. and Smahi, A. and Trembath, R.C. and Fraternali, F. and Smith, C.H. and Barker, J.N. and Capon, F.
DOI: 10.1016/j.ajhg.2014.04.005
2014

Generalized pustular eruptions: Time to adapt the disease taxonomy to the genetic architecture?
Journal of Investigative Dermatology
Navarini, A.A. and Valeyrie-Allanore, L. and Setta-Kaffetzi, N. and Barker, J.N. and Capon, F. and Creamer, D. and Roujeau, J.-C. and Sekula, P. and Simpson, M.A. and Trembath, R.C. and Mockenhaupt, M. and Smith, C.H.
DOI: 10.1038/jid.2013.349
2014

Loss of IL36RN function does not confer susceptibility to psoriasis vulgaris
Journal of Investigative Dermatology
Berki, D.M. and Mahil, S.K. and David Burden, A. and Trembath, R.C. and Smith, C.H. and Capon, F. and Barker, J.N.
DOI: 10.1038/jid.2013.285
2014

IL36RN mutations in generalized pustular psoriasis: Just the tip of the iceberg
Journal of Investigative Dermatology
Capon, F.
DOI: 10.1038/jid.2013.361
2013

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes
Journal of Investigative Dermatology
Setta-Kaffetzi, N. and Navarini, A.A. and Patel, V.M. and Pullabhatla, V. and Pink, A.E. and Choon, S.-E. and Allen, M.A. and Burden, A.D. and Griffiths, C.E.M. and Seyger, M.M.B. and Kirby, B. and Trembath, R.C. and Simpson, M.A. and Smith, C.H. and Capon, F. and Barker, J.N.
DOI: 10.1038/jid.2012.490
2013

Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis
Journal of Investigative Dermatology
Navarini, A.A. and Valeyrie-Allanore, L. and Setta-Kaffetzi, N. and Barker, J.N. and Capon, F. and Creamer, D. and Roujeau, J.-C. and Sekula, P. and Simpson, M.A. and Trembath, R.C. and Mockenhaupt, M. and Smith, C.H.
DOI: 10.1038/jid.2013.44
2013

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability
Nature
Hunt, K.A. and Mistry, V. and Bockett, N.A. and Ahmad, T. and Ban, M. and Barker, J.N. and Barrett, J.C. and Blackburn, H. and Brand, O. and Burren, O. and Capon, F. and Compston, A. and Gough, S.C.L. and Jostins, L. and Kong, Y. and Lee, J.C. and Lek, M. and MacArthur, D.G. and Mansfield, J.C. and Mathew, C.G. and Mein, C.A. and Mirza, M. and Nutland, S. and Onengut-Gumuscu, S. and Papouli, E. and Parkes, M. and Rich, S.S. and Sawcer, S. and Satsangi, J. and Simmonds, M.J. and Trembath, R.C. and Walker, N.M. and Wozniak, E. and Todd, J.A. and Simpson, M.A. and Plagnol, V. and Van Heel, D.A.
DOI: 10.1038/nature12170
2013

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.
PloS one
Clop, A. and Bertoni, A. and Spain, S.L. and Simpson, M.A. and Pullabhatla, V. and Tonda, R. and Hundhausen, C. and Di Meglio, P. and De Jong, P. and Hayday, A.C. and Nestle, F.O. and Barker, J.N. and Bell, R.J. and Capon, F. and Trembath, R.C.
DOI: 10.1371/journal.pone.0071690
2013

Psoriasis and other complex trait dermatoses: From loci to functional pathways
Journal of Investigative Dermatology
Capon, F. and Burden, A.D. and Trembath, R.C. and Barker, J.N.
DOI: 10.1038/jid.2011.395
2012

Allele-specific cytokine responses at the HLA-C locus: Implications for psoriasis
Journal of Investigative Dermatology
Hundhausen, C. and Bertoni, A. and Mak, R.K. and Botti, E. and Di Meglio, P. and Clop, A. and Laggner, U. and Chimenti, S. and Hayday, A.C. and Barker, J.N. and Trembath, R.C. and Capon, F. and Nestle, F.O.
DOI: 10.1038/jid.2011.378
2012

Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene
Journal of Investigative Dermatology
Onoufriadis, A. and Simpson, M.A. and Burden, A.D. and Barker, J.N. and Trembath, R.C. and Capon, F.
DOI: 10.1038/jid.2011.431
2012

The quest for psoriasis susceptibility genes in the postgenome-wide association studies era: Charting the road ahead
British Journal of Dermatology
Capon, F. and Barker, J.N.W.N.
DOI: 10.1111/j.1365-2133.2012.10895.x
2012

Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis
Human Molecular Genetics
Knight, J. and Spain, S.L. and Capon, F. and Hayday, A. and Nestle, F.O. and Clop, A. and Barker, J.N. and Weale, M.E. and Trembath, R.C.
DOI: 10.1093/hmg/dds344
2012

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Nature Genetics
Tsoi, L.C. and Spain, S.L. and Knight, J. and Ellinghaus, E. and Stuart, P.E. and Capon, F. and Ding, J. and Li, Y. and Tejasvi, T. and Gudjonsson, J.E. and Kang, H.M. and Allen, M.H. and McManus, R. and Novelli, G. and Samuelsson, L. and Schalkwijk, J. and St?hle, M. and Burden, A.D. and Smith, C.H. and Cork, M.J. and Estivill, X. and Bowcock, A.M. and Krueger, G.G. and Weger, W. and Worthington, J. and Tazi-Ahnini, R. and Nestle, F.O. and Hayday, A. and Hoffmann, P. and Winkelmann, J. and Wijmenga, C. and Langford, C. and Edkins, S. and Andrews, R. and Blackburn, H. and Strange, A. and Band, G. and Pearson, R.D. and Vukcevic, D. and Spencer, C.C.A. and Deloukas, P. and Mrowietz, U. and Schreiber, S. and Weidinger, S. and Koks, S. and Kingo, K. and Esko, T. and Metspalu, A. and Lim, H.W. and Voorhees, J.J. and Weichenthal, M. and Wichmann, H.E. and Chandran, V. and Rosen, C.F. and Rahman, P. and Gladman, D.D. and Griffiths, C.E.M. and Reis, A. and Kere, J. and Nnair, R.P. and Franke, A. and Barker, J.N. and Abecasis, G.R. and Eelder, J.T. and Ttrembath, R. and Duffin, K.C. and Helms, C. and Goldgar, D. and Paschall, J. and Malloy, M.J. and Pullinger, C.R. and Kane, J.P. and Gardner, J. and Perlmutter, A. and Miner, A. and Feng, B.J. and Hiremagalore, R. and Ike, R.W. and Christophers, E. and Henseler, T. and Ruether, A. and Schrodi, S.J. and Prahalad, S. and Guthery, S.L. and Fischer, J. and Liao, W. and Kwok, P. and Menter, A. and Lathrop, G.M. and Wise, C. and Begovich, A.B. and Onoufriadis, A. and Weale, M.E. and Hofer, A. and Salmhofer, W. and Wolf, P. and Kainu, K. and Saarialho-Kere, U. and Suomela, S. and Badorf, P. and Hüffmeier, U. and Kurrat, W. and Küster, W. and Lascorz, J. and Mössner, R. and Schürmeier-Horst, F. and Ständer, M. and Traupe, H. and Bergboer, J.G.M. and Heijer, M.D. and Van De Kerkhof, P.C. and Zeeuwen, P.L.J.M. and Barnes, L. and Campbell, L.E. and Cusack, C. and Coleman, C. and Conroy, J. and Ennis, S. and Fitzgerald, O. and Gallagher, P. and Irvine, A.D. and Kirby, B. and Markham, T. and McLean, W.H.I. and McPartlin, J. and Rogers, S.F. and Ryan, A.W. and Zawirska, A. and Giardina, E. and Lepre, T. and Perricone, C. and Martín-Ezquerra, G. and Pujol, R.M. and Riveira-Munoz, E. and Inerot, A. and Naluai, ?.T. and Mallbris, L. and Wolk, K. and Leman, J. and Barton, A. and Warren, R.B. and Young, H.S. and Ricano-Ponce, I. and Trynka, G. and Pellett, F.J. and Henschel, A. and Aurand, M. and Bebo, B. and Gieger, C. and Illig, T. and Moebus, S. and Jöckel, K.-H. and Erbel, R. and Donnelly, P. and Peltonen, L. and Blackwell, J.M. and Bramon, E. and Brown, M.A. and Casas, J.P. and Corvin, A. and Craddock, N. and Duncanson, A. and Jankowski, J. and Markus, H.S. and Mathew, C.G. and McCarthy, M.I. and Palmer, C.N.A. and Plomin, R. and Rautanen, A. and Sawcer, S.J. and Samani, N. and Viswanathan, A.C. and Wood, N.W. and Bellenguez, C. and Freeman, C. and Hellenthal, G. and Giannoulatou, E. and Pirinen, M. and Su, Z. and Hunt, S.E. and Gwilliam, R. and Bumpstead, S.J. and Dronov, S. and Gillman, M. and Gray, E. and Hammond, N. and Jayakumar, A. and McCann, O.T. and Liddle, J. and Perez, M.L. and Potter, S.C. and Ravindrarajah, R. and Ricketts, M. and Waller, M. and Weston, P. and Widaa, S. and Whittaker, P. and Neir, R.P. and Elder, J.T. and Trembath, R.C.
DOI: 10.1038/ng.2467
2012

Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis
Human Molecular Genetics
Bijlmakers, M. and Kanneganti, S.K. and Barker, J.N. and Trembath, R.C. and Capon, F.
DOI: 10.1093/hmg/ddr215
2011

The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans
PLoS ONE
Di Meglio, P. and Di Cesare, A. and Laggner, U. and Chu, C.-C. and Napolitano, L. and Villanova, F. and Tosi, I. and Capon, F. and Trembath, R.C. and Peris, K. and Nestle, F.O.
DOI: 10.1371/journal.pone.0017160
2011

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis
American Journal of Human Genetics
Onoufriadis, A. and Simpson, M.A. and Pink, A.E. and Di Meglio, P. and Smith, C.H. and Pullabhatla, V. and Knight, J. and Spain, S.L. and Nestle, F.O. and Burden, A.D. and Capon, F. and Trembath, R.C. and Barker, J.N.
DOI: 10.1016/j.ajhg.2011.07.022
2011

Meta-analysis confirms the LCE3C-LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6
Journal of Investigative Dermatology
Riveira-Munoz, E. and He, S.-M. and Escaramís, G. and Stuart, P.E. and Hüffmeier, U. and Lee, C. and Kirby, B. and Oka, A. and Giardina, E. and Liao, W. and Bergboer, J. and Kainu, K. and De Cid, R. and Munkhbat, B. and Zeeuwen, P.L.J.M. and Armour, J.A.L. and Poon, A. and Mabuchi, T. and Ozawa, A. and Zawirska, A. and Burden, A.D. and Barker, J.N. and Capon, F. and Traupe, H. and Sun, L.-D. and Cui, Y. and Yin, X.-Y. and Chen, G. and Lim, H.W. and Nair, R.P. and Voorhees, J.J. and Tejasvi, T. and Pujol, R. and Munkhtuvshin, N. and Fischer, J. and Kere, J. and Schalkwijk, J. and Bowcock, A. and Kwok, P.-Y. and Novelli, G. and Inoko, H. and Ryan, A.W. and Trembath, R.C. and Reis, A. and Zhang, X.-J. and Elder, J.T. and Estivill, X.
DOI: 10.1038/jid.2010.350
2011

A genome-wide asociation study identifies new psoriasis susceptibility loci and an interaction betwEn HLA-C and ERAP1
Nature Genetics
Strange, A. and Capon, F. and Spencer, C.C.A. and Knight, J. and Weale, M.E. and Allen, M.H. and Barton, A. and Band, G. and Bellenguez, C. and Bergboer, J.G.M. and BlackweL, J.M. and Bramon, E. and Bumpstead, S.J. and Casas, J.P. and Cork, M.J. and Corvin, A. and Deloukas, P. and Dilthey, A. and Duncanson, A. and Edkins, S. and EstiviL, X. and Fitzgerald, O. and FrEman, C. and Giardina, E. and Gray, E. and Hofer, A. and Hüffmeier, U. and Hunt, S.E. and Irvine, A.D. and Jankowski, J. and Kirby, B. and Langford, C. and Lascorz, J. and Leman, J. and Leslie, S. and MaLbris, L. and Markus, H.S. and Mathew, C.G. and McLean, W.H.I. and McManus, R. and MöSner, R. and Moutsianas, L. and Naluai, A.T. and Nestle, F.O. and NoveLi, G. and Onoufriadis, A. and Palmer, C.N.A. and Perricone, C. and Pirinen, M. and Plomin, R. and PoTer, S.C. and Pujol, R.M. and Rautanen, A. and Riveira-Munoz, E. and Ryan, A.W. and Salmhofer, W. and SamuelSon, L. and Sawcer, S.J. and Schalkwijk, J. and Smith, C.H. and St?hle, M. and Su, Z. and Tazi-Ahnini, R. and Traupe, H. and Viswanathan, A.C. and Warren, R.B. and Weger, W. and Wolk, K. and WOd, N. and Worthington, J. and Young, H.S. and Zeeuwen, P.L.J.M. and Hayday, A. and Burden, A.D. and Griffiths, C.E.M. and Kere, J. and Reis, A. and McVean, G. and Evans, D.M. and Brown, M.A. and Barker, J.N. and Peltonen, L. and Donely, P. and Trembath, R.C.
DOI: 10.1038/ng.694
2010

Genetic analysis of desmoglein 3 (DSG3) sequence variants in patients with pemphigus vulgaris
British Journal of Dermatology
Capon, F. and Boulding, H. and Quaranta, M. and Mortimer, N.J. and Setterfield, J.F. and Black, M.M. and Trembath, R.C. and Harman, K.E.
DOI: 10.1111/j.1365-2133.2009.09429.x
2009

Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes
Genes and Immunity
Quaranta, M. and Burden, A.D. and Griffiths, C.E.M. and Worthington, J. and Barker, J.N. and Trembath, R.C. and Capon, F.
DOI: 10.1038/gene.2009.51
2009

Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23
American Journal of Human Genetics
Everett, K.V. and Chioza, B.A. and Georgoula, C. and Reece, A. and Capon, F. and Parker, K.A. and Cord-Udy, C. and McKeigue, P. and Mitton, S. and Pierro, A. and Puri, P. and Mitchison, H.M. and Chung, E.M.K. and Gardiner, R.M.
DOI: 10.1016/j.ajhg.2007.12.023
2008

Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease
Journal of Medical Genetics
Wolf, N. and Quaranta, M. and Prescott, N.J. and Allen, M. and Smith, R. and Burden, A.D. and Worthington, J. and Griffiths, C.E.M. and Mathew, C.G. and Barker, J.N. and Capon, F. and Trembath, R.C.
DOI: 10.1136/jmg.2007.053595
2008

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24
European Journal of Human Genetics
Everett, K.V. and Capon, F. and Georgoula, C. and Chioza, B.A. and Reece, A. and Jaswon, M. and Pierro, A. and Puri, P. and Gardiner, R.M. and Chung, E.M.K.
DOI: 10.1038/ejhg.2008.86
2008

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene
Human Molecular Genetics
Capon, F. and Bijlmakers, M.-J. and Wolf, N. and Quaranta, M. and Huffmeier, U. and Allen, M. and Timms, K. and Abkevich, V. and Gutin, A. and Smith, R. and Warren, R.B. and Young, H.S. and Worthington, J. and Burden, D.A. and Griffiths, C.E.M. and Hayday, A. and Nestle, F.O. and Reis, A. and Lanchbury, J. and Barker, J.N. and Trembath, R.C.
DOI: 10.1093/hmg/ddn091
2008

Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis
Human Genetics
Capon, F. and Di Meglio, P. and Szaub, J. and Prescott, N.J. and Dunster, C. and Baumber, L. and Timms, K. and Gutin, A. and Abkevic, V. and Burden, A.D. and Lanchbury, J. and Barker, J.N. and Trembath, R.C. and Nestle, F.O.
DOI: 10.1007/s00439-007-0397-0
2007

Filaggrin null alleles are not associated with psoriasis
Journal of Investigative Dermatology
Zhao, Y. and Terron-Kwiatkowski, A. and Liao, H. and Lee, S.P. and Allen, M.H. and Hull, P.R. and Campbell, L.E. and Trembath, R.C. and Capon, F. and Griffiths, C.E.M. and Burden, D. and McManus, R. and Hughes, R. and Kirby, B. and Rogers, S.F. and Fitzgerald, O. and Kane, D. and Barker, J.N.W.N. and Palmer, C.N.A. and Irvine, A.D. and Irwin McLean, W.H.
DOI: 10.1038/sj.jid.5700817
2007

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity
American Journal of Human Genetics
Capon, F. and Reece, A. and Ravindrarajah, R. and Chung, E.
DOI: 10.1086/505952
2006

Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris
British Journal of Dermatology
Capon, F. and Bharkhada, J. and Cochrane, N.E. and Mortimer, N.J. and Setterfield, J.F. and Reynaert, S. and Black, M.M. and Vaughan, R.W. and Trembath, R.C. and Harman, K.E.
DOI: 10.1111/j.1365-2133.2005.06882.x
2006

The long and winding road: Searching for non-MHC psoriasis susceptibility loci
Current Genomics
Capon, F. and Giardina, E.
DOI: 10.2174/1389202053202102
2005

Fine mapping of the psoriasis susceptibility gene PSORS1: A reassessment of risk associated with a putative risk haplotype lacking HLA-Cw6
Journal of Investigative Dermatology
Abecasis, G. and Allen, M. and Barker, J.N.W.N. and Burden, D. and Capon, F. and Christophers, E. and Elder, J.T. and Fischer, J. and Giardina, E. and Gudjonsson, J.E. and Hüffmeier, U. and Jenisch, S. and Karason, A. and Kere, J. and Nair, R.P. and Novelli, G. and Prud'homme, J.-F. and Qin, Z.S. and Samuelsson, L. and Sanchez, F. and Saarialho-Kere, U. and St?hle, M. and Stuart, P. and Tillman, D. and Traupe, H. and Trembath, R. and Valdimarsson, H. and Veal, C. and Voorhees, J.J. and Weichenthal, M.
DOI: 10.1111/j.0022-202X.2005.23729.x
2005

A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups
Human Molecular Genetics
Capon, F. and Allen, M.H. and Ameen, M. and Burden, A.D. and Tillman, D. and Barker, J.N. and Trembath, R.C.
DOI: 10.1093/hmg/ddh273
2004

Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus
Annals of Human Genetics
Giardina, E. and Capon, F. and De Rosa, M.C. and Mango, R. and Zambruno, G. and Orecchia, A. and Chimenti, S. and Giardina, B. and Novelli, G.
DOI: 10.1046/j.1529-8817.2004.00118.x
2004

Genetic analysis of PSORS2 markers in a UK dataset supports the association between RAPTOR SNPs and familial psoriasis
Journal of Medical Genetics
Capon, F. and Helms, C. and Veal, C.D. and Tillman, D. and Burden, A.D. and Barker, J.N. and Bowcock, A.M. and Trembath, R.C.
DOI: 10.1136/jmg.2004.018226
2004

An update on the genetics of psoriasis
Dermatologic Clinics
Capon, F. and Trembath, R.C. and Barker, J.N.
DOI: 10.1016/S0733-8635(03)00125-6
2004

Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility
Journal of Medical Genetics
Capon, F. and Toal, I.K. and Evans, J.C. and Allen, M.H. and Patel, S. and Tillman, D. and Burden, D. and Barker, J.N.W.N. and Trembath, R.C.
DOI: 10.1136/jmg.40.6.447
2003

The International Psoriasis Genetics study: Assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs
American Journal of Human Genetics
Allen, M and Barker, JWN and Bowcock, AM and Burden, AD and Chia, N and Capon, F and Christophers, E and Daly, MJ and Elder, JT and Helms, C and Henseler, T and Jenisch, S and Menter, A and Mistry, R and Nair, RP and Stuart, PE and Tillman, D and Trembath, RC and Veal, C and Voorhees, JJ and Int Psoriasis Genetics Consortium
2003

Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre
BMC Medical Genetics
Giardina, E. and Capon, F. and D'Apice, M.R. and Amati, F. and Arturi, F. and Filetti, S. and Bonifazi, E. and Pucci, S. and Conte, C. and Novelli, G.
DOI: 10.1186/1471-2350-3-5
2002

Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees
Human Genetics
Semprini, S. and Capon, F. and Tacconelli, A. and Giardina, E. and Orecchia, A. and Mingarelli, R. and Gobello, T. and Zambruno, G. and Botta, A. and Fabrizi, G. and Novelli, G.
DOI: 10.1007/s00439-002-0812-5
2002

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus
Human Molecular Genetics
Asumalahti, K. and Veal, C. and Laitinen, T. and Suomela, S. and Allen, M. and Elomaa, O. and Moser, M. and De Cid, R. and Ripatti, S. and Vorechovsky, I. and Marcusson, J.A. and Nakagawa, H. and Lazaro, C. and Estivill, X. and Capon, F. and Novelli, G. and Saarialho-Kere, U. and Barker, J. and Trembath, R. and Kere, J. and Burden, D.B. and Tillman, D. and Powis, S.H. and Balendran, N. and Ameen, M. and Vaughan, R.W. and Heath, E.K. and Itkonen-Vatjus, R. and Jansen, C. and Karvonen, J. and Karvonen, S.-L. and Kivekäs, K. and Reunala, T. and Snellman, E. and Uurasmaa, T. and Toftg?rd, R. and Murakami, T. and Otsuki, M. and Asahina, A. and Saeki, H. and Barberà, E. and Ferrándiz, C. and Giménez Arnau, A. and Grimalt, F. and Puig, S. and Sánchez, A. and Palacios, A. and Pujol, J.A. and Sánchez, M. and Simal, E. and Vázquez, F. and Ramírez, B.
DOI: 10.1093/hmg/11.5.589
2002

Searching for the major histocompatibility complex psoriasis susceptibility gene
Journal of Investigative Dermatology
Capon, F. and Munro, M. and Barker, J. and Trembath, R.
DOI: 10.1046/j.1523-1747.2002.01749.x
2002

Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus
American Journal of Human Genetics
Veal, C.D. and Capon, F. and Allen, M.H. and Heath, E.K. and Evans, J.C. and Jones, A. and Patel, S. and Burden, D. and Tillman, D. and Barker, J.N.W.N. and Trembath, R.C.
DOI: 10.1086/342289
2002

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population
European Journal of Dermatology
Borgiani, P. and Vallo, L. and D'Apice, M.R. and Giardina, E. and Pucci, S. and Capon, F. and Nisticò, S. and Chimenti, S. and Pallone, F. and Novelli, G.
2002

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.
European journal of dermatology : EJD
PubMed: 12459523
2002

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to ohuman chromosome 17p11
Human Genetics
Baghernajad Salehi, L. and Mangino, M. and De Serio, S. and De Cicco, D. and Capon, F. and Semprini, S. and Pizzuti, A. and Novelli, G. and Dallapiccola, B.
DOI: 10.1007/s00439-002-0785-4
2002

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
American Journal of Human Genetics
Novelli, G. and Muchir, A. and Sangiuolo, F. and Helbling-Leclerc, A. and D?apice, M.R. and Massart, C. and Capon, F. and Sbraccia, P. and Federici, M. and Lauro, R. and Tudisco, C. and Pallotta, R. and Scarano, G. and Dallapiccola, B. and Merlini, L. and Bonne, G.
DOI: 10.1086/341908
2002

A single strand conformation polymorphism-based carrier test for spinal muscular atrophy
Genetic Testing
Semprini, S. and Tacconelli, A. and Capon, F. and Brancati, F. and Dallapiccola, B. and Novelli, G.
DOI: 10.1089/109065701750168662
2001

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26
European Journal of Human Genetics
Mangino, M. and Flex, E. and Capon, F. and Sangiuolo, F. and Carraro, E. and Gualandi, F. and Mazzoli, M. and Martini, A. and Novelli, G. and Dallapiccola, B.
DOI: 10.1038/sj.ejhg.5200707
2001

Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21
Journal of Investigative Dermatology
Capon, F. and Semprini, S. and Chimenti, S. and Fabrizi, G. and Zambruno, G. and Murgia, S. and Carcassi, C. and Fazio, M. and Mingarelli, R. and Dallapiccola, B. and Novelli, G.
DOI: 10.1046/j.1523-1747.2001.01311.x
2001

Dopamine D4 receptor (DRD4) in the determination of infant temperament
American Journal of Medical Genetics - Neuropsychiatric Genetics
De Luca, A. and Torrente, I. and Mangino, M. and Capon, F. and Rizzardi, M. and Salvioli, G.P. and Alessandroni, R. and Novelli, G. and Dallapiccola, B.
2000

Mapping a dominant form of multinodular goiter to chromosome Xp22
American Journal of Human Genetics
Capon, F. and Tacconelli, A. and Giardina, E. and Sciacchitano, S. and Bruno, R. and Tassi, V. and Trischitta, V. and Filetti, S. and Dallapiccola, B. and Novelli, G.
DOI: 10.1086/303095
2000

Advances in the search for Psoriasis susceptibility genes
Molecular Genetics and Metabolism
Capon, F. and Dallapiccola, B. and Novelli, G.
DOI: 10.1006/mgme.2000.3031
2000

Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3
European Journal of Human Genetics
Sangiuolo, F. and Bruscia, E. and Capon, F. and Servidei, S. and Dallapiccola, B. and Novelli, G.
DOI: 10.1038/sj.ejhg.5200547
2000

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13
Neurology
Servidei, S. and Capon, F. and Spinazzola, A. and Mirabella, M. and Semprini, S. and De Rosa, G. and Gennarelli, M. and Sangiuolo, F. and Ricci, E. and Mohrenweiser, H.W. and Dallapiccola, B. and Tonali, P. and Novelli, G.
DOI: 10.1212/wnl.53.4.830
1999

Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: Exclusion of a candidate for familial psoriasis susceptibility
Human Genetics
Semprini, S. and Capon, F. and Bovolenta, S. and Bruscia, E. and Pizzuti, A. and Fabrizi, G. and Schietroma, C. and Zambruno, G. and Dallapiccola, B. and Novelli, G.
DOI: 10.1007/s004390050925
1999

Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1
Journal of Investigative Dermatology
Capon, F. and Novelli, G. and Semprini, S. and Clementi, M. and Nudo, M. and Vultaggio, P. and Mazzanti, C. and Gobello, T. and Botta, A. and Fabrizi, G. and Dallapiccola, B.
DOI: 10.1046/j.1523-1747.1999.00471.x
1999

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22
American Journal of Human Genetics
Mangino, M. and Sanchez, O. and Torrente, I. and De Luca, A. and Capon, F. and Novelli, G. and Dallapiccola, B.
DOI: 10.1086/302505
1999

Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21 [8]
American Journal of Human Genetics
Capon, F. and Semprini, S. and Dallapiccola, B. and Novelli, G.
DOI: 10.1086/302653
1999

Molecular prenatal diagnosis of neuromuscular disorders
Neuromuscular Diseases During Development
Dallapiccola, B and Capon, F and Gennarelli, M and Torrente, I and Mingarelli, R and Novelli, G and Cornelio, F and Lanzi, G and Fedrizzi, E
1997

Expression study of survival motor neuron gene in human fetal tissues
Biochemical and Molecular Medicine
Novelli, G. and Calzà, L. and Amicucci, P. and Giardino, L. and Pozza, M. and Silani, V. and Pizzuti, A. and Gennarelli, M. and Piombo, G. and Capon, F. and Dallapiccola, B.
DOI: 10.1006/bmme.1997.2590
1997

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation
Neurogenetics
Novelli, G. and Semprini, S. and Capon, F. and Dallapiccola, B.
DOI: 10.1007/s100480050004
1997

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families
Muscle and Nerve
Capon, F. and Levato, C. and Semprini, S. and Pizzuti, A. and Merlini, L. and Novelli, G. and Dallapiccola, B.
DOI: 10.1002/(SICI)1097-4598(199603)19:33.0.CO;2-O
1996

DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies
Clinical Chemistry
Novelli, G. and Capon, F. and Levato, C. and Cavicchini, A. and Dallapiccola, B.
DOI: 10.1093/clinchem/42.4.643
1996

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern
Neuromuscular Disorders
Capon, F. and Levato, C. and Merlini, L. and Angelini, C. and Mostacciuolo, M.L. and Politano, L. and Novelli, G. and Dallapiccola, B.
DOI: 10.1016/0960-8966(96)00350-1
1996

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus
Human Mutation
Capon, F. and Levato, C. and Bussaglia, E. and Cicero, S.L. and Tizzano, E.F. and Baiget, M. and Silani, V. and Pizzuti, A. and Novelli, G. and Dallapiccola, B.
DOI: 10.1002/(SICI)1098-1004(1996)7:33.0.CO;2-7
1996

Identification of multiple transcribed sequences from the spinal muscular atrophy region on human chromosome 5
Biochemical and Biophysical Research Communications
Pizzuti, A. and Colosimo, A. and Ratti, A. and Capon, F. and Gennarelli, M. and Ghezzi, C. and Lo Cicero, S. and Calabrese, G. and Palka, G. and Scarlato, G. and Novelli, G. and Dallapiccola, B.
DOI: 10.1006/bbrc.1995.1041
1995

Survival motor-neuron gene transcript analysis in muscles from spinal muscular-atrophy patients
Biochemical and Biophysical Research Communications
Gennarelli, M. and Lucarelli, M. and Capon, F. and Pizzuti, A. and Merlini, L. and Angelini, C. and Novelli, G. and Dallapiccola, B.
DOI: 10.1006/bbrc.1995.2135
1995

De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy
Prenatal Diagnosis
Capon, F. and Cicero, S.L. and Levato, C. and Novelli, G. and Dallapiccola, B.
DOI: 10.1002/pd.1970150121
1995

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13
Journal of Medical Genetics
Novelli, G. and Capon, F. and Tamisari, L. and Grandi, E. and Angelini, C. and Guerrini, P. and Dallapiccola, B.
DOI: 10.1136/jmg.32.3.216
1995

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers
Prenatal Diagnosis
Cicero, S.L. and Capon, F. and Melchionda, S. and Gennarelli, M. and Novelli, G. and Dallapiccola, B.
DOI: 10.1002/pd.1970140608
1994

PCR PROTOCOL FOR DNA RECOVERY FROM SPURRS-EMBEDDED MUSCLE BIOPSIES
Pcr-Methods and Applications
CAPON, F and LOCICERO, S and NOVELLI, G and DALLAPICCOLA, B
1993

A tool for the molecular analysis of an early lethal disease: Slide-pcr in spinal muscular atrophy patients
Molecular and Cellular Probes
Capon, F. and Melchionda, S. and Gennarelli, M. and Lo Cicero, S. and Giacanelli, M. and Novelli, G. and Dallapiccola, B.
DOI: 10.1006/mcpr.1993.1032
1993

PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies
Genome Research
Capon, F. and Lo Cicero, S. and Novelli, G. and Dallapiccola, B.
DOI: 10.1101/gr.3.3.211
1993