Patry, Lysanne

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

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 419

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

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