Spiegelman, Dan

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J., Velde, C. V., Bouchard, J.-P., Lacomblez, L., Pochigaeva, K., Salachas, F., et al. (2008) · Nature Genetics

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics

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Increased exonic de novo mutation rate in individuals with schizophrenia

Girard, S. L., Gauthier, J., Noreau, A., Xiong, L., Zhou, S., Jouan, L., Dionne-Laporte, A., Spiegelman, D., Henrion, E., Diallo, O., et al. (2011) · Nature Genetics

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

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De Novo Mutations in Moderate or Severe Intellectual Disability

Hamdan, F. F., Srour, M., Capo-Chichi, J.-M., Daoud, H., Nassif, C., Patry, L., Massicotte, C., Ambalavanan, A., Spiegelman, D., Diallo, O., et al. (2014) · PLoS Genetics

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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

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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

Hamdan, F. F., Gauthier, J., Araki, Y., Lin, D.-T., Yoshizawa, Y., Higashi, K., Park, A.-R., Spiegelman, D., Dobrzeniecka, S., Piton, A., et al. (2011) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

Hamdan, F. F., Gauthier, J., Spiegelman, D., Noreau, A., Yang, Y., Pellerin, S., Dobrzeniecka, S., Côté, M., Perreau-Linck, E., Carmant, L., et al. (2009) · New England Journal of Medicine

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

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Novel de novo SHANK3 mutation in autistic patients

Gauthier, J., Spiegelman, D., Piton, A., Lafrenière, R. G., Laurent, S., St‐Onge, J., Lapointe, L., Hamdan, F. F., Cossette, P., Mottron, L., et al. (2009) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

Gauthier, J., Siddiqui, T. J., Huashan, P., Yokomaku, D., Hamdan, F. F., Champagne, N., Lapointe, M., Spiegelman, D., Noreau, A., Lafrenière, R. G., et al. (2011) · Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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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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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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A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

Myers, R. A., Casals, F., Gauthier, J., Hamdan, F. F., Keebler, J., Boyko, A. R., Bustamante, C. D., Piton, A. M., Spiegelman, D., Henrion, E., et al. (2011) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease

Senkevich, K., Zorca, C. E., Dworkind, A., Rudakou, U., Somerville, E., Yu, E., Ermolaev, A., Nikanorova, D., Ahmad, J., Ruskey, J. A., et al. (2023) · Brain

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