Associated Papers
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.
Almanasra A et al.
Proteins, 2021
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
Martin DC et al.
Clinical Chemistry, 2007
Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.
Bach G et al.
American Journal of Medical Genetics, 2001
A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
Karpati M et al.
Clinical Genetics, 2000
Tay-Sachs disease carrier screening: a model for prevention of genetic disease.
Kaplan F
Genetic Testing, 1998
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R
Human Mutation, 1997
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
Prence EM et al.
Journal of Medical Screening, 1997
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
van Bael M et al.
Journal of Medical Genetics, 1996
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
Triggs-Raine B et al.
American Journal of Human Genetics, 1995
Screening people of Jewish origin for Tay-Sachs disease carriers.
Hecht F
Arizona Medicine, 1981
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