Associated Papers
The Great Genotyper: a graph-based method for population genotyping of small and structural variants.
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Gigascience, 2025
41041811 (PubMed )
Supplement: giaf112_supplemental_files.zip › Supplementary_table_3.xlsx › case_study
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.
Glinton KE et al.
Frontiers in Genetics, 2024
39011401 (PubMed )
Supplement: Table1.xlsx › Table_S2
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Tokatly Latzer I et al.
Human Genetics, 2023
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
Latzer IT et al.
Research Square, 2023
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I et al.
Epilepsia, 2023
Integrative genomic and transcriptomic analysis of leiomyosarcoma.
Chudasama P et al.
Nature Communications, 2018
29321523 (PubMed )
Supplement: 41467_2017_2602_MOESM4_ESM.xlsx › 4_Somatic_SNVs
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
Pearl PL et al.
Developmental Medicine and Child Neurology, 2015
Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.
Aligianis IA et al.
Journal of Inherited Metabolic Disease, 2002
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