Associated Papers
Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.
Khurana S et al.
Brain Communications, 2026
41574092 (PubMed )
Supplement: fcag003_supplementary_data.zip › Supplementary_Tables_S1-S6.xlsx › Supplemental_Table_S5
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Systematic phenotype and genotype characterization of Moebius syndrome.
Webb BD et al.
Genetics in Medicine Open, 2025
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 › AlphaMissense_vs_Alamut_and_EVE_Results.xlsx › Sheet1
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
Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia.
Shen XM et al.
Annals of Clinical and Translational Neurology, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
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