Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?
Ilic N et al.
Genes, 2024
Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency.
Fazi C et al.
Frontiers in Pediatrics, 2022
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I et al.
Human Genetics, 2021
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ et al.
Human Genetics, 2020
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
Daich Varela M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2019
Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith CE et al.
European Journal of Human Genetics : Ejhg, 2016
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
Berendse K et al.
Orphanet Journal of Rare Diseases, 2013
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR et al.
Biochimica Et Biophysica Acta, 2012
Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.
Ebberink MS et al.
Human Mutation, 2010
An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy.
Gupta P et al.
Annals of Indian Academy of Neurology, 0