Associated Papers
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
Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.
Zhao R et al.
Cerebellum (london, England), 2023
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
International Journal of Molecular Sciences, 2021
Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene.
Rong T et al.
Frontiers in Pediatrics, 2021
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
Schweizer U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.
Puppala AK et al.
Scientific Reports, 2016
27576344 (PubMed )
Supplement: srep32563-s1.pdf
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Iwama K et al.
Journal of Human Genetics, 2016
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