Associated Papers
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases.
Yoldaş Çelik M et al.
Molecular Genetics and Metabolism Reports, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Maddirevula S et al.
Frontiers in Genetics, 2020
RareLSD: a manually curated database of lysosomal enzymes associated with rare diseases.
Akhter S et al.
Database : the Journal of Biological Databases and Curation, 2019
Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2.
Gardner HL et al.
Communications Biology, 2019
31341965 (PubMed )
Supplement: 42003_2019_487_MOESM10_ESM.xlsx › Metastatic_Tumor
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.
Martins C et al.
Molecular Genetics and Metabolism Reports, 2017
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 2015
Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.
Salih MA et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
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