Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.
Salari M et al.
Neurology. Genetics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG20
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_MOESM13_ESM.xlsx › Sheet1
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review.
Liang H et al.
Annals of the New York Academy of Sciences, 2020
Novel SPG20 mutation in an extended family with Troyer syndrome.
Bizzari S et al.
Metabolic Brain Disease, 2017
Expanding the genetic heterogeneity of intellectual disability.
Anazi S et al.
Human Genetics, 2017
SPG20 mutation in three siblings with familial hereditary spastic paraplegia.
Dardour L et al.
Cold Spring Harbor Molecular Case Studies, 2017
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.
Spiegel R et al.
Jimd Reports, 2017
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