Daniel Rochefort

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Bernard Brais, Jean‐Pierre Bouchard, Ya‐Gang Xie et al. · Nature Genetics · 1998 · 798 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

Edor Kabashi, Miranda L. Tradewell, Patrick A. Dion et al. · Human Molecular Genetics · 2009 · 419 citations

Life Sciences, Neurology, Neuroscience +14

De novo mutations in the gene encoding the synaptic scaffolding protein <i>SHANK3</i> in patients ascertained for schizophrenia

Julie Gauthier, Nathalie Champagne, Ronald G. Lafrenière et al. · Proceedings of the National Academy of Sciences · 2010 · 380 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in<i>SYNGAP1</i>Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Martin H. Berryer, Fadi F. Hamdan, Laura L. Klitten et al. · Human Mutation · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +17

The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

Heidi Howard, David B. Mount, Daniel Rochefort et al. · Nature Genetics · 2002 · 278 citations

Medicine, Neurology, Neuroscience +16