Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.
Tang H et al.
Clinical Case Reports, 2021
Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.
Nohara T et al.
Journal of Dermatological Science, 2021
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
Esperón-Moldes U et al.
Plos One, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Hotz A et al.
Human Mutation, 2018
Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.
Feng C et al.
Clinical and Experimental Dermatology, 2017
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti A et al.
Orphanet Journal of Rare Diseases, 2016
Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.
Ohno Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.
Kelly EJ et al.
Molecular Interventions, 2011
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
Lefèvre C et al.
Human Molecular Genetics, 2006
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
Noguera-Morel L et al.
Pediatric Dermatology, 0
Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations.
Swink SM et al.
Pediatric Dermatology, 0
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