Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Recalcitrant erythrodermic ichthyosis with atopic dermatitis successfully treated with Dupilumab in combination with Guselkumab.
Steinhoff M et al.
Skin Health and Disease, 2022
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
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.
Koh K et al.
Molecular Genetics & Genomic Medicine, 2020
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
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Hotz A et al.
Human Mutation, 2018
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F et al.
International Journal of Dermatology, 2017
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
Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.
Sugiura K et al.
Journal of Dermatological Science, 2013
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