Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
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
Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1.
Brooks BM et al.
Stem Cell Research, 2021
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Mahmoud IG et al.
Clinical Genetics, 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
C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.
Cozma C et al.
Scientific Reports, 2017
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Kim SY et al.
American Journal of Medical Genetics. Part A, 2016
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
Bashyam MD et al.
Clinical Genetics, 2014
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Zhou J et al.
American Journal of Human Genetics, 2012
A novel mutation in an atypical presentation of the rare infantile Farber disease.
Al Jasmi F
Brain & Development, 2012
Population genetic analysis of the N-acylsphingosine amidohydrolase gene associated with mental activity in humans.
Kim HL et al.
Genetics, 2008
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