Evaluating the performance of four assays for carrier screening of spinal muscular atrophy

A single nucleotide in the <i>SMN</i> gene regulates splicing and is responsible for spinal muscular atrophy

Christian L. Lorson, Eric Hahnen, Elliot J. Androphy et al. · Proceedings of the National Academy of Sciences · 1999 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +17

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

U. R. Monani · Human Molecular Genetics · 1999 · 944 citations

Life Sciences, Genetics, Molecular Genetics +12

A mouse model for spinal muscular atrophy

Hsiu Mei Hsieh‐Li, Jan‐Gowth Chang, Yuh‐Jyh Jong et al. · Nature Genetics · 2000 · 710 citations

Medicine, Neurobiology, Neuroscience +11

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

Elaine A. Sugarman, Narasimhan Nagan, Hui Zhu et al. · European Journal of Human Genetics · 2011 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

Bertold Schrank, Rudolf Götz, Janice Ure et al. · Proceedings of the National Academy of Sciences · 1997 · 658 citations

Life Sciences, Genetics, Molecular Genetics +17