Christine Massicotte

De Novo Mutations in Moderate or Severe Intellectual Disability

Fadi F. Hamdan, Myriam Srour, José‐Mario Capo‐Chichi et al. · PLoS Genetics · 2014 · 421 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Fadi F. Hamdan, Julie Gauthier, Yoichi Araki et al. · The American Journal of Human Genetics · 2011 · 351 citations

Life Sciences, Genetics, Neuroscience +17

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan et al. · The American Journal of Human Genetics · 2012 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Loss-of-function de novo mutations play an important role in severe human neural tube defects

Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay et al. · Journal of Medical Genetics · 2015 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase<i>IARS2</i>in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

Jeremy Schwartzentruber, Daniela Buhaş, Jacek Majewski et al. · Human Mutation · 2014 · 78 citations

Life Sciences, Genetics, Molecular Genetics +17