Sylvia 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.

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.

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

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

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.

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.

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

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

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.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

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

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.

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

D. Labuda, G. Rouleau, K. Boycott, 2012, 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.

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.

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

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

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

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

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.

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.

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients

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