PubRank

Alan D Irvine

Author PubWeight™ 99.85‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006 9.99
2 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet 2010 8.48
3 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006 4.55
4 Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007 3.94
5 A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet 2009 2.96
6 Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci 2009 2.71
7 The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol 2008 2.53
8 Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol 2006 2.22
9 Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol 2008 2.16
10 Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol 2009 2.03
11 Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol 2011 1.97
12 Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2008 1.89
13 The multifunctional role of filaggrin in allergic skin disease. J Allergy Clin Immunol 2013 1.74
14 Toward a major risk factor for atopic eczema: meta-analysis of filaggrin polymorphism data. J Allergy Clin Immunol 2007 1.71
15 Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol 2011 1.68
16 Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum. J Invest Dermatol 2008 1.67
17 Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol 2006 1.62
18 Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol 2007 1.57
19 Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proc Natl Acad Sci U S A 2004 1.56
20 Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002 1.42
21 Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet 2009 1.31
22 Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. J Allergy Clin Immunol 2013 1.30
23 Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol 2010 1.23
24 Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2009 1.22
25 Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet 2009 1.12
26 Effect of filaggrin breakdown products on growth of and protein expression by Staphylococcus aureus. J Allergy Clin Immunol 2010 1.12
27 Filaggrin variants confer susceptibility to asthma. J Allergy Clin Immunol 2008 1.12
28 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. Am J Med Genet A 2011 1.11
29 High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet 2013 1.11
30 Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A 2003 1.10
31 RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 2013 1.09
32 Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet 2012 1.08
33 Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency. J Allergy Clin Immunol 2012 1.07
34 Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease. Hum Mutat 2013 1.07
35 A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci 2007 1.00
36 Atopic eczema and the filaggrin story. Semin Cutan Med Surg 2008 0.97
37 Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol 2010 0.97
38 Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk. J Allergy Clin Immunol 2008 0.96
39 Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. Pediatr Dermatol 2007 0.96
40 An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet 2003 0.95
41 A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. Hum Mol Genet 2013 0.95
42 Ichthyosis prematurity syndrome: a case report and review of known mutations. Pediatr Dermatol 2014 0.94
43 Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. J Invest Dermatol 2010 0.94
44 Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues. Ulster Med J 2007 0.92
45 Systemic therapies for severe atopic dermatitis in children and adults. J Allergy Clin Immunol 2013 0.92
46 Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS One 2011 0.91
47 The role of filaggrin loss-of-function mutations in atopic dermatitis. Curr Opin Allergy Clin Immunol 2008 0.90
48 Gender- and gestational age-specific body fat percentage at birth. Pediatrics 2011 0.90
49 Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status. J Allergy Clin Immunol 2013 0.87
50 Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A 2010 0.87
51 Filaggrin null alleles are not associated with psoriasis. J Invest Dermatol 2007 0.86
52 PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. Pediatr Radiol 2011 0.83
53 Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol 2002 0.82
54 Heritable filaggrin disorders: the paradigm of atopic dermatitis. J Invest Dermatol 2012 0.82
55 Newborn transepidermal water loss values: a reference dataset. Pediatr Dermatol 2013 0.82
56 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population. J Pediatr Endocrinol Metab 2006 0.81
57 Mediastinal and neck kaposiform hemangioendothelioma: report of three cases. Pediatr Dermatol 2009 0.79
58 Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin. J Invest Dermatol 2012 0.79
59 Old King coal - molecular mechanisms underlying an ancient treatment for atopic eczema. J Clin Invest 2013 0.78
60 Childhood eczema and the importance of the physical environment. J Invest Dermatol 2013 0.76
61 Second International Conference on a classification of ectodermal dysplasias: development of a multiaxis model. Am J Med Genet A 2014 0.76
62 Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. Am J Med Genet A 2012 0.75
63 Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort. PLoS One 2009 0.75
64 Kaposi sarcoma in an patient with atopic dermatitis treated with ciclosporin. BMJ Case Rep 2013 0.75
65 Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet 2015 0.75
66 Body Composition within the First 3 Months: Optimized Correction for Length and Correlation with BMI at 2 Years. Horm Res Paediatr 2016 0.75
67 Successful treatment of florid cutaneous warts with intravenous cidofovir in an 11-year-old girl. Pediatr Dermatol 2008 0.75
68 Use of systemic corticosteroids in management of a large congenital haemangioma of the scalp. Pediatr Dermatol 2012 0.75
69 Skin involvement in Down syndrome transient abnormal myelopoiesis. Br J Haematol 2012 0.75