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_1
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.
Ryan-Phillips F et al.
Biomedicines, 2024
39595115 (PubMed )
Supplement: biomedicines-12-02549-s001.zip › Variant_Validator.xlsx › Sheet1
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome.
Eirís-Puñal J et al.
Revista De Neurologia, 2020
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
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