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 · 796 citations · Full text

Systems Biology, Genetic Disorder, Short Gcg Expansions +7

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 · 412 citations

Als-related Mutations, Motor Dysfunction, Genetics +16

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 · 277 citations

K–cl Cotransporter Kcc3, Synaptic Transmission, Corpus Callosum +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 · 270 citations

Genetics, Pathology, Disease-causing Point Mutations +19

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort et al. · The American Journal of Human Genetics · 2010 · 233 citations · Full text

Neurodevelopmental Disorders, Genetic Disorder, Genetics +9