Associated Papers
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Birch CL et al.
Journal of Translational Medicine, 2025
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
Rare variants and founder effect in the Beauce region of Quebec.
Gagnon M et al.
Communications Biology, 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
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitis.
Bellinato F et al.
Archives of Dermatological Research, 2024
Targeted next-generation sequencing analysis in Italian patients with keratoconus.
Lombardo M et al.
Eye (london, England), 2024
Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.
Clabbers J et al.
The Journal of Allergy and Clinical Immunology, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.
Rossel SVJ et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI et al.
Clinical Genetics, 2023
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
Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin.
Khan N et al.
International 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
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
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
Imputation provides an opportunity to study filaggrin ( FLG) null mutations in large population cohorts that lack bespoke genotyping.
Paternoster L et al.
Wellcome Open Research, 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
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.
Smieszek SP et al.
Scientific Reports, 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
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Filaggrin null mutations are associated with altered circulating Tregs in atopic dermatitis.
Moosbrugger-Martinz V et al.
Journal of Cellular and Molecular Medicine, 2019
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.
Zarrei M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Saleheen D et al.
Nature, 2017
Alterations in Epidermal Eicosanoid Metabolism Contribute to Inflammation and Impaired Late Differentiation in FLG-Mutated Atopic Dermatitis.
Blunder S et al.
The Journal of Investigative Dermatology, 2017
Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.
Sanderson SC et al.
European Journal of Human Genetics : Ejhg, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.
Esparza-Gordillo J et al.
Plos Genetics, 2015
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
Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.
Srinivas SM et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature.
De Graef D et al.
Therapeutic Advances in Rare Disease, 0
Targeted Filaggrin Gene (FLG) Sequencing: A Pilot Study among Indian Children with Atopic Dermatitis.
Somasundaram A et al.
Indian Dermatology Online Journal, 0