Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.
Charouf D et al.
International Journal of Molecular Sciences, 2024
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.
Kamate M et al.
Cerebellum (london, England), 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Salian S et al.
Clinical Genetics, 2021
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Davids M et al.
Molecular Genetics and Metabolism, 2020
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer EE et al.
Molecular Genetics & Genomic Medicine, 2018
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Palmer EE et al.
Human Molecular Genetics, 2016
Arv1; a "Mover and Shaker" of Subcellular Lipids.
Corbalan JJ et al.
Contact (thousand Oaks (ventura County, Calif.)), 0
Select a paper to view details