Pascale Guicheney

Genotype-Phenotype Correlation in the Long-QT Syndrome

Peter J. Schwartz, Silvia G. Priori, Carla Spazzolini et al. · Circulation · 2001 · 1.7K citations

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

Genetic Disorder, Genetics, Missense Mutation +6

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

Nathalie Neyroud, Frédérique Tesson, Isabelle Denjoy et al. · Nature Genetics · 1997 · 881 citations

Novel Mutation, Channelopathies, Cardiomyopathy +10

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Jamie D. Kapplinger, David J. Tester, Mariëlle Alders et al. · Heart Rhythm · 2009 · 753 citations · Full text

Channelopathies, Cardiomyopathy, Genetic Disorder +7

Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy

A. Leclerc, Xu Zhang, Haluk Topaloğlu et al. · Nature Genetics · 1995 · 624 citations

Rare Diseases, Laminin α2–Chain Gene, Developmental Biology +8