List of works - Sylvia Dobrzeniecka

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

scientific article

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

scientific article published in June 2009

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

scientific article published on 15 January 2011

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific journal article

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

scientific article published on 22 July 2015

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

scientific article published in November 2017

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

scientific article

Intellectual disability without epilepsy associated with STXBP1 disruption

scientific article

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

scientific article published on 20 February 2013

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients ⬇️

scientific article published on October 10, 2012

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

scientific article

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

scientific article published on 12 December 2012

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

scientific article

Mutations in TMEM231 cause Joubert syndrome in French Canadians

scientific article published on 25 September 2012

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

scientific article published in May 2009

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

scientific article published on 26 September 2013

SYNE1 mutations in autosomal recessive cerebellar ataxia

scientific article

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

scientific article

List of works by Sylvia Dobrzeniecka

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

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

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

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

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

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

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

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

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

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

Intellectual disability without epilepsy associated with STXBP1 disruption

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

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients ⬇️

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

Mutations in TMEM231 cause Joubert syndrome in French Canadians

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

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

SYNE1 mutations in autosomal recessive cerebellar ataxia

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