Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Brain MRI in a newborn with Zellweger syndrome: ADC quantitation in white matter disease.
Quintas-Neves M et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2018
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.
Bhoj EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.
Konkoľová J et al.
Molecular Biology Reports, 2015
Zellweger syndrome and secondary mitochondrial myopathy.
Salpietro V et al.
European Journal of Pediatrics, 2015
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.
Dranchak PK et al.
Journal of Cellular Biochemistry, 2011
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY et al.
Human Mutation, 2009
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