Associated Papers
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Mayer de Lima LB et al.
Clinical Genetics, 2026
Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value.
de Vries JM et al.
European Journal of Human Genetics : Ejhg, 2026
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
Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis.
Ma YJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN.
Sivadas A et al.
International Journal of Dermatology, 2026
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
Skin microbiome composition and function in the development of atopic diseases during infancy.
Shen Z et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic Insights Into Allergic Contact Dermatitis: Reassessing the Role of LCE3C_LCE3B Deletion.
Ben Lamine Z et al.
Contact Dermatitis, 2025
Collagen XXIII (COL23A1): A novel risk factor for eczema herpeticum.
Chopra S et al.
The Journal of Allergy and Clinical Immunology, 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
Mutation-aware formulation: a genomic framework for equitable global dermocosmetics.
Rahman E et al.
Human Genetics, 2025
Genome-wide association meta-regression identifies stem cell lineage orchestration as a key driver of acne risk.
Maxwell J et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Gene-environment interaction analysis in atopic eczema: evidence from large population datasets and modelling in vitro.
Standl M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Large Thymus Size at 2 Months Is Associated With Increased Risk of Atopic Dermatitis at Age 2.
Frier Ruge I et al.
Allergy, 2025
Genetic Background of Eosinophilic Esophagitis and Esophageal Atresia in Children.
Ulkersoy I et al.
Digestive Diseases and Sciences, 2025
Gene-Environment Interaction Affects Risk of Atopic Eczema: Population and In Vitro Studies.
Standl M et al.
Allergy, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Drabe CH et al.
Journal of Clinical Immunology, 2025
Analysis of Rare Coding Variants in 470,000 UK Biobank Participants Reveals Genetic Associations With Childhood Asthma Predisposition.
Liu Z et al.
International Journal of Immunogenetics, 2025
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
Frommherz L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans.
González-Huerta LM et al.
Genes, 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
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.
Song C et al.
Ophthalmic Genetics, 2025
Trajectories of egg sensitization in childhood: Two birth cohorts in Asia and Europe.
Nakamura T et al.
Allergy, 2025
Genetic Variant rs1801275 in Atopic Dermatitis: Prevalence and Clinical Implications in Vietnamese Population.
Nguyen THN et al.
Journal of Asthma and Allergy, 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF et al.
Frontiers in Immunology, 2025
Gene variants associated with skin barrier dysfunction in atopic dermatitis: a systematic review and meta-analysis.
Cordeiro PL et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 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
Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.
Garrido-Torres N et al.
European Child & Adolescent Psychiatry, 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
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Increased loss-of-function filaggrin gene mutation prevalence in atopic dermatitis patients across northern latitudes indicates genetic fitness: A systematic review and meta-analysis.
Khatib CM et al.
Experimental Dermatology, 2024
Association between polymorphisms and atopic dermatitis susceptibility: A systematic review and meta-analysis.
Huang Y et al.
Gene, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Fioretti T et al.
Biomedicines, 2024
Filaggrin Mutation Status and Prevention of Atopic Dermatitis with Maternal Probiotic Supplementation.
Zakiudin DP et al.
Acta Dermato-venereologica, 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
Children with asthma and eczema carrying filaggrin loss-of-function mutations have increased antibiotic use through to adulthood.
Holden C et al.
Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2024
Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.
Clabbers J et al.
The Journal of Allergy and Clinical Immunology, 2024
Association between filaggrin gene mutations and the clinical features of molluscum contagiosum: The Yamanashi Adjunct Study of the Japan Environment and Children's Study.
Kojima R et al.
The Journal of Dermatology, 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
Infant lung function and early skin barrier impairment in the development of asthma at age 3 years.
Färdig M et al.
Allergy, 2024
Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB).
Ropret S et al.
Stem Cell Research, 2024