Sylvia Dobrzeniecka

Montreal, QC H2X0A9, Canada

Last Updated: 09/26/2026

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Found 16 publications

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

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

Journal: American journal of human genetics

Published: June 27, 2017

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

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

Journal: European journal of human genetics : EJHG

Published: January 26, 2015

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

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

Journal: Journal of medical genetics

Published: December 14, 2014

SYNE1 mutations in autosomal recessive cerebellar ataxia.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

Journal: JAMA neurology

Published: August 21, 2013

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.

Journal: Neuron

Published: August 15, 2013

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

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

Journal: American journal of human genetics

Published: July 02, 2013

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

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

Journal: Journal of medical genetics

Published: May 21, 2013

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

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

Journal: European journal of human genetics : EJHG

Published: March 20, 2013

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

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

Journal: European journal of human genetics : EJHG

Published: November 22, 2012

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Journal: Journal of medical genetics

Published: September 27, 2012

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

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

Journal: Behavioral and brain functions : BBF

Published: August 22, 2012

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

Journal: Neurobiology of aging

Published: August 20, 2012

Showing 1-12 of 16

Last Updated: 09/26/2026