Florence Niel

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

Takuro Arimura, A. Leclerc, Catherine Massart et al. · Human Molecular Genetics · 2004 · 322 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Organization and Sequence of Human Cardiac Myosin Binding Protein C Gene (MYBPC3) and Identification of Mutations Predicted to Produce Truncated Proteins in Familial Hypertrophic Cardiomyopathy

Lucie Carrier, Gisèle Bonne, Ellen Bährend et al. · Circulation Research · 1997 · 302 citations

Medicine, Genetics, Molecular Genetics +13

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

Claudia Braida, Rhoda Stefanatos, Berit Adam et al. · Human Molecular Genetics · 2010 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ZFHX1B mutations in patients with Mowat-Wilson syndrome

Florence Dastot‐Le Moal, Meredith Wilson, David Mowat et al. · Human Mutation · 2007 · 142 citations

Medicine, Genetics, Molecular Genetics +17

Nonrecurrent <i>MECP2</i> duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Marijke Bauters, Hilde Van Esch, Michael J. Friez et al. · Genome Research · 2008 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17