Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 3.9K citations · Full text

Genetics, Gene Characterization, Molecular Genetics +3

Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 896 citations

Genetics, Sequence Analysis, Genome Analysis +6

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Elaine A. Sugarman, Narasimhan Nagan, Hui Zhu et al. · European Journal of Human Genetics · 2011 · 666 citations · Full text

Genetic Testing, Genetics, Genetic Epidemiology +19

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Maite Calucho, Sara Bernal, Laura Alías et al. · Neuromuscular Disorders · 2018 · 486 citations

Sma Type, Clinical Epidemiology, Genetic Epidemiology +5

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

Thomas W. Prior, Adrian R. Krainer, Yimin Hua et al. · The American Journal of Human Genetics · 2009 · 309 citations · Full text

Positive Modifier, Genetic Disorder, Genetics +7