Rochefort, Daniel

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Gauthier, J., Champagne, N., Lafrenière, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Côté, M., Noreau, A., et al. (2010) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersSchizophrenia research and treatment

Cited by 369

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

Berryer, M. H., Hamdan, F. F., Klitten, L. L., Møller, R. S., Carmant, L., Schwartzentruber, J., Patry, L., Dobrzeniecka, S., Rochefort, D., Neugnot-Cerioli, M., et al. (2013) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 266

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

Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.-O., Joober, R., et al. (2010) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersLanguage Development and Disorders

Cited by 235

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Lesage, S., Le Ber, I., Condroyer, C., Broussolle, E., Gabelle, A., Thobois, S., Pasquier, F., Mondon, K., Dion, P. A., Rochefort, D., et al. (2013) · Brain

Parkinson's Disease Mechanisms and TreatmentsAmyotrophic Lateral Sclerosis Research

Cited by 164

A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.

Duan, Q. L., Nikpoor, B., Dubé, M.-P., Molinaro, G., Meijer, I. A., Dion, P., Rochefort, D., Saint-Onge, J., Flury, L., Brown, N. J., et al. (2005) · The American Journal of Human Genetics

Coagulation, Bradykinin, Polyphosphates, and AngioedemaRenin-Angiotensin System Studies

Cited by 126

Recombinant congenic strains derived from A/J and C57BL/6J: a tool for genetic dissection of complex traits

Fortin, A., Diez, E., Rochefort, D., Laroche, L., Malo, D., Rouleau, G. A., Gros, P., & Skamene, E. (2001) · Genomics

Genetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

Cited by 116