Associated Papers
Exome sequencing reveals rare loss-of-function mutations in FLG and immune genes in patients with multiple food allergies.
Khanshour AM et al.
The Journal of Allergy and Clinical Immunology, 2026
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.
Osundiji MA et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology, 2025
Atopic Dermatitis in Indonesian Children: Association of Toilet Seat Dermatitis With Moderate-Severe Manifestation and Low Prevalence of Loss-of-Function Filaggrin Gene Variants.
Effendi RMRA et al.
International Journal of Dermatology, 2025
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Drabe CH et al.
Journal of Clinical Immunology, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Targeted next-generation sequencing analysis in Italian patients with keratoconus.
Lombardo M et al.
Eye (london, England), 2024
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
Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.
Clabbers JMK et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
The Skin and Nose Microbiome and Its Association with Filaggrin Gene Mutations in Pediatric Atopic Dermatitis.
van Mierlo MMF et al.
Dermatology (basel, Switzerland), 2022
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
Massively Parallel Sequencingof the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy.
Shi W et al.
Acta Dermato-venereologica, 2020
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
Seidl-Philipp M et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020
Noonan syndrome with multiple lentigines and associated craniosynostosis.
McDonald BS et al.
Clinical and Experimental Dermatology, 2018
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Filaggrin mutations and Molluscum contagiosum skin infection in patients with atopic dermatitis.
Manti S et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2017
Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
Baurecht H et al.
American Journal of Human Genetics, 2015
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