S. Dobrzeniecka

发表

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

E. Fombonne, J. Lacaille, M. Krebs, 2010, American journal of human 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.

Intellectual disability without epilepsy associated with STXBP1 disruption

J. Lacaille, L. Mottron, G. Rouleau, 2011, European Journal of Human Genetics.

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

M. Lassonde, G. Rouleau, A. Dionne‐Laporte, 2015, European Journal of Human Genetics.

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients

V. Meininger, G. Rouleau, W. Camu, 2013, Neurobiology of Aging.

Parent–child exome sequencing identifiesa de novo truncating mutation in TCF4 in non‐syndromic intellectual disability

G. Rouleau, G. Rouleau, F. Hamdan, 2013, Clinical genetics.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

A. Durr, J. Bouchard, S. Forlani, 2013, JAMA neurology.

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Dipendra K. Aryal, D. Goldstein, J. McNamara, 2013, Neuron.

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

E. Fombonne, J. Lacaille, F. Dubeau, 2009, Annals of neurology.

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

A. Addington, L. DeLisi, J. Rapoport, 2009, The New England journal of medicine.

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

J. Lacaille, N. Tommerup, M. Tarnopolsky, 2013, Human mutation.

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

J. Lacaille, J. Milunsky, M. Krebs, 2011, Biological Psychiatry.

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

G. Rouleau, A. Piton, D. Rochefort, 2012, European Journal of Human Genetics.

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

J. Lacaille, G. Rouleau, N. Matsumoto, 2012, European Journal of Human Genetics.

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes

Allen D. Delaney, M. Marra, A. Delaney, 2013, European Journal of Human Genetics.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

P. Calvas, N. Chassaing, D. Chitayat, 2013, 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.

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

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

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

Philippe P Roux, R. Joober, G. Rouleau, 2013, Journal of Medical Genetics.

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

C. Fallet-Bianco, D. Labuda, E. Brustein, 2015, Journal of Medical Genetics.

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease

M. Krebs, R. Joober, G. Rouleau, 2013, Behavioral and Brain Functions.

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

E. Fombonne, J. Lacaille, L. Mottron, 2009, Archives of neurology.