Samuels, Mark E.

Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis

Papanikolaou, G., Samuels, M. E., Ludwig, E. H., MacDonald, M. L. E., Franchini, P. L., Dubé, M.-P., Andres, L., MacFarlane, J., Sakellaropoulos, N., Politou, M., et al. (2004) · Nature Genetics

Iron Metabolism and DisordersNeurological diseases and metabolism

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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

Cited by 369

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Guernsey, D. L., Jiang, H., Campagna, D. R., Evans, S. C., Ferguson, M., Kellogg, M. D., Lachance, M., Matsuoka, M., Nightingale, M., Rideout, A., et al. (2009) · Nature Genetics

Iron Metabolism and DisordersHemoglobinopathies and Related Disorders

Cited by 244

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Yoon, G., Malam, Z., Paton, T., Marshall, C. R., Hyatt, E., Ivakine, Z., Scherer, S. W., Lee, K.-S., Hawkins, C., Cohn, R. D., et al. (2016) · The Journal of Pediatrics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 78

Bioinactive ACTH causing glucocorticoid deficiency

Samuels, M. E., Gallo-Payet, N., Pinard, S., Hasselmann, C., Magne, F., Patry, L., Chouinard, L., Schwartzentruber, J., René, P., Sawyer, N., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersMetabolism and Genetic Disorders

Cited by 55

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

Valdmanis, P. N., Dupré, N., Lachance, M., Stochmanski, S. J., Belzil, V. V., Dion, P. A., Thiffault, I., Brais, B., Weston, L., Saint-Amant, L., et al. (2011) · Brain

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

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