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The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 03/2019, Volume 143, Issue 3, pp. 1021 - 1026
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 06/2019, Volume 143, Issue 6, pp. 2120 - 2130
Journal Article
Human Mutation, ISSN 1059-7794, 05/2018, Volume 39, Issue 5, pp. 643 - 652
The genetic diagnosis of rare monogenic diseases using exome/genome sequencing requires the true causal variant(s) to be identified from tens of thousands of... 
whole genome sequencing | Mendelian | rare disease | HPO | genetic diagnosis | variant prioritization | phenotype similarity | whole exome sequencing | monogenic | ACCURATE | PROJECT | DISORDERS | SEARCHES | DISCOVERY | HUMAN PHENOME | FAMILIES | GENETICS & HEREDITY | ONTOLOGY | MUTATIONS | SEMANTIC SIMILARITY | Genetic research | Phenotype | Genetic aspects | Research institutes | Genes | Genomics | Phenotypes | Genomes | Disease | Genetic screening
Journal Article
Nature Communications, ISSN 2041-1723, 05/2017, Volume 8, Issue 1, p. 15382
Psoriasis is a complex disease of skin with a prevalence of about 2%. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for... 
PATHWAYS | POPULATION | MULTIDISCIPLINARY SCIENCES | DISEASE | SUSCEPTIBILITY LOCI | HLA-C | MODEL | ARTHRITIS | ONSET | GENOME-WIDE ASSOCIATION | REVEALS | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 10/2017, Volume 76, Issue 10, pp. 1774 - 1779
Journal Article
by Tziotzios, Christos and Petridis, Christos and Dand, Nick and Ainali, Chrysanthi and Saklatvala, Jake R and Pullabhatla, Venu and Onoufriadis, Alexandros and Pramanik, Rashida and Baudry, David and Lee, Sang Hyuck and Wood, Kristie and Liu, Lu and Seegobin, Seth and Michelotti, Gregory A and Lwin, Su M and Christou, Evangelos A. A and Curtis, Charles J and de Rinaldis, Emanuele and Saxena, Alka and Holmes, Susan and Harries, Matthew and Palamaras, Ioulios and Cunningham, Fiona and Parkins, Gregory and Kaur, Manjit and Farrant, Paul and McDonagh, Andrew and Messenger, Andrew and Jones, Jennifer and Jolliffe, Victoria and Ali, Iaisha and Ardern-Jones, Michael and Mitchell, Charles and Burrows, Nigel and Atkar, Ravinder and Banfield, Cedric and Alexandroff, Anton and Champagne, Caroline and Cooper, Hywel L and Vañó-Galván, Sergio and Molina-Ruiz, Ana Maria and Perez, Nerea Ormaechea and Patel, Girish K and Macbeth, Abby and Page, Melanie and Bryden, Alyson and Mowbray, Megan and Wahie, Shyamal and Armstrong, Keith and Cooke, Nicola and Goodfield, Mark and Man, Irene and de Berker, David and Dunnill, Giles and Takwale, Anita and Rao, Archana and Siah, Tee-Wei and Sinclair, Rodney and Wade, Martin S and Dlova, Ncoza C and Setterfield, Jane and Lewis, Fiona and Bhargava, Kapil and Kirkpatrick, Niall and Estivill, Xavier and Stefanato, Catherine M and Flohr, Carsten and Spector, Timothy and Watt, Fiona M and Smith, Catherine H and Barker, Jonathan N and Fenton, David A and Simpson, Michael A and McGrath, John A
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1150 - 9
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 5075 - 8
Acne vulgaris is a highly heritable common, chronic inflammatory disease of the skin for which five genetic risk loci have so far been identified. Here, we... 
DATABASE | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | MUTATIONS | LD SCORE REGRESSION | ASSOCIATION | EXPRESSION | HEDGEHOG | Morphogenesis | Statistical analysis | Epidermolysis bullosa | Acne | Blistering | Skin diseases | Risk | Genomes | Mutation | Loci | Binding sites | Chromosome 1
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2017, Volume 26, Issue 21, pp. 4301 - 4313
Journal Article