Aileen Sandilands

Author PubWeight™ 44.04‹?›

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 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006 4.55
3 A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet 2009 2.96
4 Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol 2011 1.97
5 Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2008 1.89
6 The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort. J Allergy Clin Immunol 2012 1.52
7 Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol 2007 1.45
8 Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol 2011 1.41
9 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
10 Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol 2010 1.23
11 Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2009 1.22
12 Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. J Allergy Clin Immunol 2008 1.17
13 Clinical severity correlates with impaired barrier in filaggrin-related eczema. J Invest Dermatol 2008 1.16
14 Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema. J Invest Dermatol 2007 1.08
15 Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet 2012 1.08
16 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
17 Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol 2008 1.06
18 Specific interaction between lens MIP/Aquaporin-0 and two members of the gamma-crystallin family. Mol Vis 2005 0.97
19 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
20 Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol 2008 0.90
21 De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. J Invest Dermatol 2007 0.89
22 Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Invest Dermatol 2008 0.81
23 The intermediate filament systems in the eye lens. Methods Cell Biol 2004 0.81
24 Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma. J Invest Dermatol 2010 0.80
25 Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin. J Invest Dermatol 2012 0.79
26 Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis. J Dermatol Sci 2010 0.78
27 Molecular genetics methods for human intermediate filament diseases. Methods Cell Biol 2004 0.75
28 Reliability and validity of genotyping filaggrin null mutations. J Dermatol Sci 2012 0.75