Associated Papers
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
40274276 (PubMed )
Supplement: CGE-108-412-s001.pdf
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population.
Thomas BR et al.
The British Journal of Dermatology, 2023
In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.
Paul AA et al.
Frontiers in Molecular Biosciences, 2023
37200867 (PubMed )
Supplement: Table1.DOCX
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.
Smieszek SP et al.
Scientific Reports, 2020
Filaggrin null mutations are associated with altered circulating Tregs in atopic dermatitis.
Moosbrugger-Martinz V et al.
Journal of Cellular and Molecular Medicine, 2019
Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants.
Wong XFCC et al.
The Journal of Allergy and Clinical Immunology, 2018
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Saleheen D et al.
Nature, 2017
28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7
Ichthyosis vulgaris: the filaggrin mutation disease.
Thyssen JP et al.
The British Journal of Dermatology, 2013
Filaggrin mutations associated with skin and allergic diseases.
Irvine AD et al.
The New England Journal of Medicine, 2011
Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese.
Zhang H et al.
Allergy, 2011
Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis.
Zhang H et al.
Allergy, 2011
Targeted Filaggrin Gene (FLG) Sequencing: A Pilot Study among Indian Children with Atopic Dermatitis.
Somasundaram A et al.
Indian Dermatology Online Journal, 0
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