Associated Papers
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
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.
AlBanji MH et al.
Molecular Genetics and Metabolism Reports, 2020
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH et al.
Human Mutation, 2020
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS et al.
Orphanet Journal of Rare Diseases, 2018
Structural basis for the activation of acid ceramidase.
Gebai A et al.
Nature Communications, 2018
Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.
Sikora J et al.
The American Journal of Pathology, 2017
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Kim SY et al.
American Journal of Medical Genetics. Part A, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
Bashyam MD et al.
Clinical Genetics, 2014
Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.
Chedrawi AK et al.
Brain & Development, 2012
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