Pierre‐Yves Jeannet

Mutations in dynamin 2 cause dominant centronuclear myopathy

Marc Bitoun, Svetlana Maugenre, Pierre‐Yves Jeannet et al. · Nature Genetics · 2005 · 461 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann et al. · Annals of Neurology · 2008 · 282 citations

Medicine, Genetics, Neurology +12

Acute ischemic stroke in children versus young adults

Sandra Bigi, Urs Fischer, E Wehrli et al. · Annals of Neurology · 2011 · 184 citations

Medicine, Neurology, Pediatrics +17

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Andrea Klein, Suzanne Lillis, Iulia Munteanu et al. · Human Mutation · 2012 · 168 citations

Life Sciences, Molecular Biology, Molecular Genetics +16