C. Massicotte

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

Guy A Rouleau, Dan Spiegelman, G. Rouleau, 2015, Journal of Medical Genetics.

De Novo Mutations in Moderate or Severe Intellectual Disability

Edouard Henrion, Guy A. Rouleau, Fadi F. Hamdan, 2014, PLoS genetics.

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

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

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

R. Huganir, J. Lacaille, G. Rouleau, 2011, American journal of human genetics.

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

K. McKernan, E. Shoubridge, F. Sasarman, 2014, Human mutation.

Evaluation of canine lumbosacral stenosis using intravenous contrast-enhanced computed tomography.

W. Renberg, C. Massicotte, P. Shires, 1999, Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association.

Mutations in TMEM231 cause Joubert syndrome in French Canadians

D. Labuda, E. Lemyre, G. Rouleau, 2012, Journal of Medical Genetics.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

D. Labuda, G. Rouleau, K. Boycott, 2012, American journal of human genetics.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

C. Fallet-Bianco, D. Labuda, H. Mandel, 2015, American journal of human genetics.

Wobbler syndrome due to cervical stenosis in a Great Dane puppy

C. Massicotte, J. C. Jones, M. Moon, 1999 .

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

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Mutations in TMEM231 cause Joubert syndrome in French Canadians

D. Labuda, E. Lemyre, G. Rouleau, 2012, Journal of Medical Genetics.