{"id":"https://openalex.org/W2883963591","doi":"https://doi.org/10.1016/j.jid.2018.05.013","title":"Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes","display_name":"Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes","publication_year":2018,"publication_date":"2018-05-29","ids":{"openalex":"https://openalex.org/W2883963591","doi":"https://doi.org/10.1016/j.jid.2018.05.013","mag":"2883963591","pmid":"https://pubmed.ncbi.nlm.nih.gov/29857066"},"language":"en","primary_location":{"id":"doi:10.1016/j.jid.2018.05.013","doi":"https://doi.org/10.1016/j.jid.2018.05.013","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2018.05.013","pdf_url":"http://www.jidonline.org/article/S0022202X18319900/pdf","source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.jidonline.org/article/S0022202X18319900/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5055565223","display_name":"Manuela Pigors","orcid":"https://orcid.org/0000-0002-3226-3935","observed_orcids":["https://orcid.org/0000-0002-3226-3935"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4405263501","display_name":"Blizard Institute","ror":"https://ror.org/01y7pzx08","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079","https://openalex.org/I4405263501"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Manuela Pigors","raw_affiliation_strings":["Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK","institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061317454","display_name":"John Common","orcid":"https://orcid.org/0000-0002-3280-7365","observed_orcids":["https://orcid.org/0000-0002-3280-7365"]},"institutions":[{"id":"https://openalex.org/I115228651","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09","country_code":"SG","type":"government","lineage":["https://openalex.org/I115228651"]},{"id":"https://openalex.org/I4210147916","display_name":"Institute of Medical Biology","ror":"https://ror.org/04frzv033","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I4210147916"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"John E.A. Common","raw_affiliation_strings":["Institute of Medical Biology, ASTAR, Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Biology, ASTAR, Singapore, Singapore","institution_ids":["https://openalex.org/I115228651","https://openalex.org/I4210147916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112437250","display_name":"X.F. Colin C. Wong","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I115228651","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09","country_code":"SG","type":"government","lineage":["https://openalex.org/I115228651"]},{"id":"https://openalex.org/I4210147916","display_name":"Institute of Medical Biology","ror":"https://ror.org/04frzv033","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I4210147916"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Xuan Fei Colin C. Wong","raw_affiliation_strings":["Institute of Medical Biology, ASTAR, Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Medical Biology, ASTAR, Singapore, Singapore","institution_ids":["https://openalex.org/I115228651","https://openalex.org/I4210147916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021207645","display_name":"Sajid Malik","orcid":"https://orcid.org/0000-0001-5563-9053","observed_orcids":["https://orcid.org/0000-0001-5563-9053"]},"institutions":[{"id":"https://openalex.org/I12469534","display_name":"Quaid-i-Azam University","ror":"https://ror.org/04s9hft57","country_code":"PK","type":"education","lineage":["https://openalex.org/I12469534"]}],"countries":["PK"],"is_corresponding":false,"raw_author_name":"Sajid Malik","raw_affiliation_strings":["Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan"],"raw_orcid":"https://orcid.org/0000-0001-5563-9053","affiliations":[{"raw_affiliation_string":"Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan","institution_ids":["https://openalex.org/I12469534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051197953","display_name":"Claire A. Scott","orcid":"https://orcid.org/0000-0002-7207-0193","observed_orcids":["https://orcid.org/0000-0002-7207-0193"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4405263501","display_name":"Blizard Institute","ror":"https://ror.org/01y7pzx08","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079","https://openalex.org/I4405263501"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Claire A. Scott","raw_affiliation_strings":["Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK","institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011268585","display_name":"Niloofar Tabarra","orcid":"https://orcid.org/0009-0002-2729-1103","observed_orcids":["https://orcid.org/0009-0002-2729-1103"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4405263501","display_name":"Blizard Institute","ror":"https://ror.org/01y7pzx08","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079","https://openalex.org/I4405263501"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Niloofar Tabarra","raw_affiliation_strings":["Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK","institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002269690","display_name":"Herty Liany","orcid":"https://orcid.org/0000-0001-6609-3287","observed_orcids":["https://orcid.org/0000-0001-6609-3287"]},"institutions":[{"id":"https://openalex.org/I115228651","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09","country_code":"SG","type":"government","lineage":["https://openalex.org/I115228651"]},{"id":"https://openalex.org/I66068411","display_name":"Genome Institute of Singapore","ror":"https://ror.org/05k8wg936","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I66068411"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Herty Liany","raw_affiliation_strings":["Genome Institute of Singapore, A*STAR, Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Institute of Singapore, A*STAR, Singapore, Singapore","institution_ids":["https://openalex.org/I115228651","https://openalex.org/I66068411"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100374993","display_name":"Jianjun Liu","orcid":"https://orcid.org/0000-0002-3255-3019","observed_orcids":["https://orcid.org/0000-0002-3255-3019"]},"institutions":[{"id":"https://openalex.org/I115228651","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09","country_code":"SG","type":"government","lineage":["https://openalex.org/I115228651"]},{"id":"https://openalex.org/I66068411","display_name":"Genome Institute of Singapore","ror":"https://ror.org/05k8wg936","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I66068411"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Jianjun Liu","raw_affiliation_strings":["Genome Institute of Singapore, A*STAR, Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genome Institute of Singapore, A*STAR, Singapore, Singapore","institution_ids":["https://openalex.org/I115228651","https://openalex.org/I66068411"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015679620","display_name":"Vachiranee Limviphuvadh","orcid":"https://orcid.org/0000-0001-5344-0585","observed_orcids":["https://orcid.org/0000-0001-5344-0585"]},"institutions":[{"id":"https://openalex.org/I115228651","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09","country_code":"SG","type":"government","lineage":["https://openalex.org/I115228651"]},{"id":"https://openalex.org/I4210148498","display_name":"Bioinformatics Institute","ror":"https://ror.org/044w3nw43","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I4210148498"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Vachiranee Limviphuvadh","raw_affiliation_strings":["Bioinformatics Institute, A*STAR, Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Institute, A*STAR, Singapore, Singapore","institution_ids":["https://openalex.org/I115228651","https://openalex.org/I4210148498"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019975803","display_name":"Sebastian Maurer\u2010Stroh","orcid":"https://orcid.org/0000-0003-0813-9640","observed_orcids":["https://orcid.org/0000-0003-0813-9640"]},"institutions":[{"id":"https://openalex.org/I115228651","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09","country_code":"SG","type":"government","lineage":["https://openalex.org/I115228651"]},{"id":"https://openalex.org/I4210148498","display_name":"Bioinformatics Institute","ror":"https://ror.org/044w3nw43","country_code":"SG","type":"facility","lineage":["https://openalex.org/I115228651","https://openalex.org/I2801752549","https://openalex.org/I4210148498"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Sebastian Maurer-Stroh","raw_affiliation_strings":["Bioinformatics Institute, A*STAR, Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Bioinformatics Institute, A*STAR, Singapore, Singapore","institution_ids":["https://openalex.org/I115228651","https://openalex.org/I4210148498"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087578841","display_name":"Mark Boon Yang Tang","orcid":"https://orcid.org/0000-0002-2964-3152","observed_orcids":["https://orcid.org/0000-0002-2964-3152"]},"institutions":[{"id":"https://openalex.org/I1287551835","display_name":"National Skin Centre","ror":"https://ror.org/000p7hm12","country_code":"SG","type":"healthcare","lineage":["https://openalex.org/I1287551835"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Mark B.Y. Tang","raw_affiliation_strings":["National Skin Centre, Singapore, Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Skin Centre, Singapore, Singapore","institution_ids":["https://openalex.org/I1287551835"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030539748","display_name":"Nicholas Lench","orcid":"https://orcid.org/0000-0002-6108-0759","observed_orcids":["https://orcid.org/0000-0002-6108-0759"]},"institutions":[{"id":"https://openalex.org/I4405267298","display_name":"Congenica Ltd. (United Kingdom)","ror":"https://ror.org/022y3w460","country_code":"GB","type":"company","lineage":["https://openalex.org/I4405267298"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nicholas Lench","raw_affiliation_strings":["Congenica Limited, Genome Campus, Hinxton, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Congenica Limited, Genome Campus, Hinxton, UK","institution_ids":["https://openalex.org/I4405267298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057661348","display_name":"David J. Margolis","orcid":"https://orcid.org/0000-0002-0506-8085","observed_orcids":["https://orcid.org/0000-0002-0506-8085"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David J. Margolis","raw_affiliation_strings":["Department of Biostatistics and Epidemiology and Dermatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics and Epidemiology and Dermatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017043721","display_name":"David A. van Heel","orcid":"https://orcid.org/0000-0002-0637-2265","observed_orcids":["https://orcid.org/0000-0002-0637-2265"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4405263501","display_name":"Blizard Institute","ror":"https://ror.org/01y7pzx08","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079","https://openalex.org/I4405263501"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"David A. van Heel","raw_affiliation_strings":["Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK","institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022180165","display_name":"Charles A. Mein","orcid":"https://orcid.org/0000-0003-0811-9658","observed_orcids":["https://orcid.org/0000-0003-0811-9658"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Charles A. Mein","raw_affiliation_strings":["The Genome Center, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Genome Center, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK","institution_ids":["https://openalex.org/I166337079"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074658404","display_name":"Natalija Novak","orcid":"https://orcid.org/0000-0001-8146-8673","observed_orcids":["https://orcid.org/0000-0001-8146-8673"]},"institutions":[{"id":"https://openalex.org/I2799391451","display_name":"University Hospital Bonn","ror":"https://ror.org/01xnwqx93","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I2799391451"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Natalija Novak","raw_affiliation_strings":["Department of Dermatology and Allergy, University Hospital Bonn, Bonn, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology and Allergy, University Hospital Bonn, Bonn, Germany","institution_ids":["https://openalex.org/I2799391451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021543281","display_name":"Hansj\u00f6rg Baurecht","orcid":"https://orcid.org/0000-0002-9265-5594","observed_orcids":["https://orcid.org/0000-0002-9265-5594"]},"institutions":[{"id":"https://openalex.org/I4210112713","display_name":"University Hospital Schleswig-Holstein","ror":"https://ror.org/01tvm6f46","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210112713"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Hansj\u00f6rg Baurecht","raw_affiliation_strings":["Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany","institution_ids":["https://openalex.org/I4210112713"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087084947","display_name":"Stephan Weidinger","orcid":"https://orcid.org/0000-0003-3944-252X","observed_orcids":["https://orcid.org/0000-0003-3944-252X"]},"institutions":[{"id":"https://openalex.org/I4210112713","display_name":"University Hospital Schleswig-Holstein","ror":"https://ror.org/01tvm6f46","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210112713"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Stephan Weidinger","raw_affiliation_strings":["Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany","institution_ids":["https://openalex.org/I4210112713"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080652339","display_name":"W.H. Irwin McLean","orcid":"https://orcid.org/0000-0001-5539-5757","observed_orcids":["https://orcid.org/0000-0001-5539-5757"]},"institutions":[{"id":"https://openalex.org/I177639307","display_name":"University of Dundee","ror":"https://ror.org/03h2bxq36","country_code":"GB","type":"education","lineage":["https://openalex.org/I177639307"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"W.H. Irwin McLean","raw_affiliation_strings":["Dermatology and Genetic Medicine, University of Dundee, Dundee, UK"],"raw_orcid":"https://orcid.org/0000-0001-5539-5757","affiliations":[{"raw_affiliation_string":"Dermatology and Genetic Medicine, University of Dundee, Dundee, UK","institution_ids":["https://openalex.org/I177639307"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077872633","display_name":"Alan David Irvine","orcid":"https://orcid.org/0000-0002-9048-2044","observed_orcids":["https://orcid.org/0000-0002-9048-2044"]},"institutions":[{"id":"https://openalex.org/I205274468","display_name":"Trinity College Dublin","ror":"https://ror.org/02tyrky19","country_code":"IE","type":"education","lineage":["https://openalex.org/I205274468"]},{"id":"https://openalex.org/I3017411684","display_name":"Children's Health Ireland at Crumlin","ror":"https://ror.org/025qedy81","country_code":"IE","type":"healthcare","lineage":["https://openalex.org/I3017411684"]},{"id":"https://openalex.org/I4210123869","display_name":"National Children\u2019s Research Centre","ror":"https://ror.org/02typaz40","country_code":"IE","type":"facility","lineage":["https://openalex.org/I4210123869"]}],"countries":["IE"],"is_corresponding":false,"raw_author_name":"Alan D. Irvine","raw_affiliation_strings":["National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland; Department of Paediatric Dermatology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland; Department of Clinical Medicine, Trinity College Dublin, Dublin, Ireland","Department of Clinical Medicine, Trinity College Dublin, Dublin, Ireland","Department of Paediatric Dermatology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland","National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland"],"raw_orcid":"https://orcid.org/0000-0002-9048-2044","affiliations":[{"raw_affiliation_string":"National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland; Department of Paediatric Dermatology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland; Department of Clinical Medicine, Trinity College Dublin, Dublin, Ireland","institution_ids":["https://openalex.org/I205274468","https://openalex.org/I3017411684","https://openalex.org/I4210123869"]},{"raw_affiliation_string":"Department of Clinical Medicine, Trinity College Dublin, Dublin, Ireland","institution_ids":["https://openalex.org/I205274468"]},{"raw_affiliation_string":"Department of Paediatric Dermatology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland","institution_ids":["https://openalex.org/I3017411684"]},{"raw_affiliation_string":"National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland","institution_ids":["https://openalex.org/I3017411684","https://openalex.org/I4210123869"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088972500","display_name":"Edel A. O\u2019Toole","orcid":"https://orcid.org/0000-0002-4084-4836","observed_orcids":["https://orcid.org/0000-0002-4084-4836"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4405263501","display_name":"Blizard Institute","ror":"https://ror.org/01y7pzx08","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079","https://openalex.org/I4405263501"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Edel A. O\u2019Toole","raw_affiliation_strings":["Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK","institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035107707","display_name":"Michael A. Simpson","orcid":"https://orcid.org/0000-0002-8539-8753","observed_orcids":["https://orcid.org/0000-0002-8539-8753"]},"institutions":[{"id":"https://openalex.org/I1298207432","display_name":"Guy's Hospital","ror":"https://ror.org/04r33pf22","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1298207432","https://openalex.org/I200166805","https://openalex.org/I4210111135"]},{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael A. Simpson","raw_affiliation_strings":["Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, Great Maze Pond, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, Great Maze Pond, London, UK","institution_ids":["https://openalex.org/I1298207432","https://openalex.org/I183935753"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075435082","display_name":"David P. Kelsell","orcid":"https://orcid.org/0000-0002-9910-7144","observed_orcids":["https://orcid.org/0000-0002-9910-7144"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4405263501","display_name":"Blizard Institute","ror":"https://ror.org/01y7pzx08","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079","https://openalex.org/I4405263501"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"David P. Kelsell","raw_affiliation_strings":["Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. Electronic address: d.p.kelsell@qmul.ac.uk","Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK"],"raw_orcid":"https://orcid.org/0000-0002-9910-7144","affiliations":[{"raw_affiliation_string":"Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. Electronic address: d.p.kelsell@qmul.ac.uk","institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"]},{"raw_affiliation_string":"Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK","institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"]}]}],"institutions":[],"countries_distinct_count":6,"institutions_distinct_count":18,"corresponding_author_ids":["https://openalex.org/A5075435082"],"corresponding_institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"],"apc_list":{"value":3800,"currency":"USD","value_usd":3800},"apc_paid":null,"fwci":5.2729,"has_fulltext":true,"cited_by_count":46,"citation_normalized_percentile":{"value":0.96106299,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"138","issue":"12","first_page":"2674","last_page":"2677"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10837","display_name":"Dermatology and Skin Diseases","score":0.9945999979972839,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10837","display_name":"Dermatology and Skin Diseases","score":0.9945999979972839,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.0010999999940395355,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11033","display_name":"Contact Dermatitis and Allergies","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/atopic-dermatitis","display_name":"atopic dermatitis","score":0.9990000128746033},{"id":"https://openalex.org/keywords/filaggrin-mutations","display_name":"filaggrin mutations","score":0.8970000147819519},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.7710000276565552},{"id":"https://openalex.org/keywords/risk-genes","display_name":"risk genes","score":0.7229999899864197},{"id":"https://openalex.org/keywords/south-asian-populations","display_name":"South Asian populations","score":0.753000020980835},{"id":"https://openalex.org/keywords/genetic-architecture","display_name":"genetic architecture","score":0.7739999890327454}],"concepts":[{"id":"https://openalex.org/C190684412","wikidata":"https://www.wikidata.org/wiki/Q21201832","display_name":"Filaggrin","level":3,"score":0.8310240507125854},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.8201488256454468},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6199742555618286},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5893023610115051},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4865936040878296},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4086901545524597},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.37672749161720276},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3638197183609009},{"id":"https://openalex.org/C2778329239","wikidata":"https://www.wikidata.org/wiki/Q268667","display_name":"Atopic dermatitis","level":2,"score":0.33474040031433105},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.3276342749595642}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000091344","descriptor_name":"Filaggrin Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001459","descriptor_name":"Bangladesh","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003876","descriptor_name":"Dermatitis, Atopic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003876","descriptor_name":"Dermatitis, Atopic","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D005006","descriptor_name":"Ethnicity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006113","descriptor_name":"United Kingdom","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D006113","descriptor_name":"United Kingdom","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007073","descriptor_name":"Immunoglobulin E","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D007381","descriptor_name":"Intermediate Filament Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012306","descriptor_name":"Risk","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1016/j.jid.2018.05.013","doi":"https://doi.org/10.1016/j.jid.2018.05.013","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2018.05.013","pdf_url":"http://www.jidonline.org/article/S0022202X18319900/pdf","source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},{"id":"pmid:29857066","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29857066","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of investigative dermatology","raw_type":"Letter"},{"id":"pmh:oai:discovery.dundee.ac.uk:openaire/510931e5-1546-4b88-804e-8c2055ce9dd2","doi":null,"is_oa":true,"landing_page_url":"https://discovery.dundee.ac.uk/en/publications/510931e5-1546-4b88-804e-8c2055ce9dd2","pdf_url":null,"source":{"id":"https://openalex.org/S4306400523","display_name":"Discovery Research Portal (University of Dundee)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I177639307","host_organization_name":"University of Dundee","host_organization_lineage":["https://openalex.org/I177639307"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:kclpure.kcl.ac.uk:openaire/d7185ec3-68b1-4941-bb7b-85e9745441d1","doi":null,"is_oa":true,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/files/128296560/Kelsell_Exome_sequencing_and_rare_variant_analysis_Accepted_2018.3.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400216","display_name":"Research Portal (King's College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I183935753","host_organization_name":"King's College London","host_organization_lineage":["https://openalex.org/I183935753"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:qmro.qmul.ac.uk:123456789/39403","doi":null,"is_oa":true,"landing_page_url":"http://qmro.qmul.ac.uk/xmlui/handle/123456789/39403","pdf_url":null,"source":{"id":"https://openalex.org/S4306400530","display_name":"Queen Mary Research Online (Queen Mary University of London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I166337079","host_organization_name":"Queen Mary University of London","host_organization_lineage":["https://openalex.org/I166337079"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1016/j.jid.2018.05.013","doi":"https://doi.org/10.1016/j.jid.2018.05.013","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jid.2018.05.013","pdf_url":"http://www.jidonline.org/article/S0022202X18319900/pdf","source":{"id":"https://openalex.org/S28607811","display_name":"Journal of Investigative Dermatology","issn_l":"0022-202X","issn":["0022-202X","1523-1747"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Investigative Dermatology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1009429141","display_name":null,"funder_award_id":"EXC306/2","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G122132715","display_name":null,"funder_award_id":"EXC306","funder_id":"https://openalex.org/F4320326641","funder_display_name":"Exzellenzclusters Entz\u00fcndungsforschung"},{"id":"https://openalex.org/G1863503021","display_name":"Filaggrin Mutations and the Prognosis of Atopic Dermatitis","funder_award_id":"R01AR056755","funder_id":"https://openalex.org/F4320337362","funder_display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases"},{"id":"https://openalex.org/G2022026185","display_name":null,"funder_award_id":"WE2678/6-1","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G4181060146","display_name":"East London Genes & Health: human knockouts in a population genomic medicine cohort of British-South Asians","funder_award_id":"210561/Z/18/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G4267133268","display_name":null,"funder_award_id":"01ZX1306A","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G5336731582","display_name":"Verbundprojekt sysINFLAME: Netzwerk f\u00fcr Systemmedizin chronisch-entz\u00fcndlicher Erkrankungen, CP1a, 2, 3, 4 , 5, 7, 8, 9b, 10b, AP","funder_award_id":"01ZX1306A","funder_id":"https://openalex.org/F4320321114","funder_display_name":"Bundesministerium f\u00fcr Bildung und Forschung"},{"id":"https://openalex.org/G7197510632","display_name":null,"funder_award_id":"WE2678/9","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G778448485","display_name":null,"funder_award_id":"EXC 306","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"},{"id":"https://openalex.org/G8442778785","display_name":null,"funder_award_id":"WE2678/6-2","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320320696","display_name":"Agency for Science, Technology and Research","ror":"https://ror.org/036wvzt09"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320321114","display_name":"Bundesministerium f\u00fcr Bildung und Forschung","ror":"https://ror.org/04pz7b180"},{"id":"https://openalex.org/F4320326641","display_name":"Exzellenzclusters Entz\u00fcndungsforschung","ror":"https://ror.org/00ygmry26"},{"id":"https://openalex.org/F4320337362","display_name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","ror":"https://ror.org/006zn3t30"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2883963591.pdf","grobid_xml":"https://content.openalex.org/works/W2883963591.grobid-xml"},"referenced_works_count":18,"referenced_works":["https://openalex.org/W1527957830","https://openalex.org/W1971402668","https://openalex.org/W1984068087","https://openalex.org/W1989405621","https://openalex.org/W2004505189","https://openalex.org/W2033556317","https://openalex.org/W2053477553","https://openalex.org/W2053725906","https://openalex.org/W2060387658","https://openalex.org/W2066224059","https://openalex.org/W2083049407","https://openalex.org/W2086390365","https://openalex.org/W2087355391","https://openalex.org/W2137228215","https://openalex.org/W2288699132","https://openalex.org/W2582826618","https://openalex.org/W2736797449","https://openalex.org/W2758464196"],"related_works":["https://openalex.org/W2341355667","https://openalex.org/W794711592","https://openalex.org/W802995653","https://openalex.org/W2951204495","https://openalex.org/W2560261020","https://openalex.org/W7042761043","https://openalex.org/W4382025222","https://openalex.org/W4411732825","https://openalex.org/W4400125411","https://openalex.org/W7128471300"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":8},{"year":2023,"cited_by_count":10},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":6}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2018-08-03T00:00:00"}