Associated Papers
satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect.
Hoskins I et al.
Genome Biology, 2023
37081510 (PubMed )
Supplement: 13059_2023_2922_MOESM3_ESM.xlsx › Table_S2
Seven novel genetic variants in a North Indian cohort with classical homocystinuria.
Kaur R et al.
Scientific Reports, 2020
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S et al.
Genome Medicine, 2020
32000841 (PubMed )
Supplement: 13073_2020_711_MOESM1_ESM.xlsx › Table_S1
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.
Lu YH et al.
Molecular Genetics and Metabolism, 2012
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
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