Cardiac conduction defects associate with mutations in SCN5A

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

Qiuyun Chen, Glenn E. Kirsch, Danmei Zhang et al. · Nature · 1998 · 1.8K citations

Medicine, Cardiology, Genetics +16

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

Qing Wang, Jiaxiang Shen, Igor Splawski et al. · Cell · 1995 · 1.7K citations · Full text

Medicine, Genetics, Molecular Genetics +14

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Gisèle Bonne, Marina Raffaele di Barletta, Shaïda Varnous et al. · Nature Genetics · 1999 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +7

Congenital Heart Disease Caused by Mutations in the Transcription Factor <i>NKX2-5</i>

Jean‐Jacques Schott, D. Woodrow Benson, Craig T. Basson et al. · Science · 1998 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +17