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_3
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
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_MOESM1_ESM.xlsx › Epilepsy_Pathogenic_variants
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Wang C et al.
American Journal of Medical Genetics. Part A, 2022
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
Algahtani H et al.
Seizure, 2019
A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.
Todd BP et al.
Journal of Neurogenetics, 2018
PRICKLE1-related early onset epileptic encephalopathy.
Mastrangelo M et al.
American Journal of Medical Genetics. Part A, 2018
Progressive myoclonus epilepsy.
Girard JM et al.
Handbook of Clinical Neurology, 2013
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
Paemka L et al.
Plos One, 2013
Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Tao H et al.
American Journal of Human Genetics, 2011
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
Bassuk AG et al.
American Journal of Human Genetics, 2008
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