Associated Papers
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.
Mohammadi MF et al.
Irish Journal of Medical Science, 2024
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.
Atli EI et al.
Internal Medicine Journal, 2022
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM6_ESM.xlsx › SD2_-_ExAC_Variants
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.pdf
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
25333069 (PubMed )
Supplement: mgg30002-0438-SD2.pdf
The molecular basis of aminoacylase 1 deficiency.
Sommer A et al.
Biochimica Et Biophysica Acta, 2011
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures.
Michelucci R et al.
Neurology, 2007
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.
Lohi H et al.
Neurology, 2007
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