Associated Papers
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.
Virolainen SJ et al.
Jci Insight, 2024
Filaggrin and beyond: New insights into the skin barrier in atopic dermatitis and allergic diseases, from genetics to therapeutic perspectives.
Stefanovic N et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
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
Associations between child filaggrin mutations and maternal diet with the development of allergic diseases in children.
Venter C et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022
A library of induced pluripotent stem cells from clinically well-characterized, diverse healthy human individuals.
Schaniel C et al.
Stem Cell Reports, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Filaggrin gene mutations with special reference to atopic dermatitis.
Gupta J et al.
Current Treatment Options in Allergy, 2020
Filaggrin sequencing and bioinformatics tools.
Margolis DJ et al.
Archives of Dermatological Research, 2020
Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.
Smieszek SP et al.
Scientific Reports, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Dysbiotic Lesional Microbiome With Filaggrin Missense Variants Associate With Atopic Dermatitis in India.
Nath S et al.
Frontiers in Cellular and Infection Microbiology, 2020
Association of Filaggrin Loss-of-Function Variants With Race in Children With Atopic Dermatitis.
Margolis DJ et al.
Jama Dermatology, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Tiled array-based sequencing identifies enrichment of loss-of-function variants in the highly homologous filaggrin gene in African-American children with severe atopic dermatitis.
Mathyer ME et al.
Experimental Dermatology, 2018
Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans.
Margolis DJ et al.
The Journal of Investigative Dermatology, 2018
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Prevalence of filaggrin gene polymorphisms (exon-3) in patients with atopic dermatitis in a multiracial Brazilian population.
Laczynski CMM et al.
Anais Brasileiros De Dermatologia, 0