Associated Papers
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
36539902 (PubMed )
Supplement: 40246_2022_444_MOESM2_ESM.xlsx › Epilepsy_Uncertain_variants
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Paul F et al.
Human Molecular Genetics, 2022
Craniofacial Diseases Caused by Defects in Intracellular Trafficking.
Lu CL et al.
Genes, 2021
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
Magoulas PL et al.
Blood, 2018
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
Stockler S et al.
Orphanet Journal of Rare Diseases, 2014
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