Rouleau, Guy A.

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Lamartine, J., Munhoz Essenfelder, G., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaître, G., Hand, C., Hayflick, S. J., Zonana, J., et al. (2000) · Nature Genetics

dental development and anomaliesGenetic and rare skin diseases.

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GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores

Mullins, N., Bigdeli, T. B., Børglum, A. D., Coleman, J. R. I., Demontis, D., Mehta, D., Power, R. A., Ripke, S., Stahl, E. A., Starnawska, A., et al. (2019) · American Journal of Psychiatry

Suicide and Self-Harm StudiesGenetic Associations and Epidemiology

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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

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Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

Gan-Or, Z., Dion, P. A., & Rouleau, G. A. (2015) · Autophagy

Parkinson's Disease Mechanisms and TreatmentsAutophagy in Disease and Therapy

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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

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Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

Tarabeux, J., Kebir, O., Gauthier, J., Hamdan, F. F., Xiong, L., Piton, A., Spiegelman, D., Henrion, É., Millet, B., S2D team, et al. (2011) · Translational Psychiatry

Genetics and Neurodevelopmental DisordersSchizophrenia research and treatment

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Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Piton, A., Michaud, J. L., Peng, H., Aradhya, S., Gauthier, J., Mottron, L., Champagne, N., Lafreniere, R. G., Hamdan, F. F., S2D team, et al. (2008) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., et al. (2010) · Science Translational Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Willsey, A. J., Fernandez, T. V., Yu, D., King, R. A., Dietrich, A., Xing, J., Sanders, S. J., Mandell, J. D., Huang, A. Y., Richer, P., et al. (2017) · Neuron

Obsessive-Compulsive Spectrum DisordersGenomics and Rare Diseases

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De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

Hamdan, F. F., Daoud, H., Piton, A., Gauthier, J., Dobrzeniecka, S., Krebs, M.-O., Joober, R., Lacaille, J.-C., Nadeau, A., Milunsky, J. M., et al. (2011) · Biological Psychiatry

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

Therrien, M., Rouleau, G. A., Dion, P. A., & Parker, J. A. (2013) · PLoS ONE

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

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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

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GWAS meta-analysis of suicide attempt: identification of 12 genome-wide significant loci and implication of genetic risks for specific health factors

Docherty, A. R., Mullins, N., Ashley-Koch, A. E., Qin, X., Coleman, J. R. I., Shabalin, A., Kang, J., Murnyak, B., Wendt, F., Adams, M., et al. (2023) · American Journal of Psychiatry

Genetic Associations and EpidemiologySuicide and Self-Harm Studies

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A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor‐induced angioedema

Cilia La Corte, A. L., Carter, A. M., Rice, G. I., Duan, Q. L., Rouleau, G. A., Adam, A., Grant, P. J., & Hooper, N. M. (2011) · Human Mutation

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Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study

McGrath, L. M., Yu, D., Marshall, C., Davis, L. K., Thiruvahindrapuram, B., Li, B., Cappi, C., Gerber, G., Wolf, A., Schroeder, F. A., et al. (2014) · Journal of the American Academy of Child & Adolescent Psychiatry

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Recessive mutations in VPS13D cause childhood onset movement disorders

Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., et al. (2018) · Annals of Neurology

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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

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Expanding the Clinical Phenotype Associated With ELOVL4 Mutation: Study of a Large French-Canadian Family With Autosomal Dominant Spinocerebellar Ataxia and Erythrokeratodermia

Cadieux-Dion, M., Turcotte-Gauthier, M., Noreau, A., Martin, C., Meloche, C., Gravel, M., Drouin, C. A., Rouleau, G. A., Nguyen, D. K., & Cossette, P. (2014) · JAMA Neurology

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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

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SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease

Alcalay, R. N., Mallett, V., Vanderperre, B., Tavassoly, O., Dauvilliers, Y., Wu, R. Y. J., Ruskey, J. A., Leblond, C. S., Ambalavanan, A., Laurent, S. B., et al. (2019) · Movement Disorders

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Somatosensory–motor bodily representation cortical thinning in Tourette: Effects of tic severity, age and gender

Fahim, C., Yoon, U., Das, S., Lyttelton, O., Chen, J., Arnaoutelis, R., Rouleau, G., Sandor, P., Frey, K., Brandner, C., et al. (2010) · Cortex

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M.-L., Anderson, V., Bitoun, P., et al. (2017) · Nature Genetics

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Evidence for a genetic association between monoamine oxidase A and restless legs syndrome

Desautels, A., Turecki, G., Montplaisir, J., Brisebois, K., Sequeira, A., Adam, B., & Rouleau, G. A. (2002) · Neurology

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Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population

Díaz-Anzaldúa, A., Joober, R., Rivière, J.-B., Dion, Y., Lespérance, P., Richer, F., Chouinard, S., Rouleau, G. A., & and the Montreal Tourette Syndrome Study Group (2004) · Molecular Psychiatry

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