Lista de obras -

3D Cohort Study: The Integrated Research Network in Perinatology of Quebec and Eastern Ontario

scientific article published on 25 October 2016

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

article by Kyota Aoyagi et al published August 2015 in Human Mutation

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

artículo científico publicado en 2016

A framework for an evidence-based gene list relevant to autism spectrum disorder

artículo científico publicado en 2020

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

artículo científico publicado en 2014

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis

artículo científico publicado en 2002

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies

artículo científico publicado en 2018

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

scientific article published on 06 November 2019

Acquired myelinated nerve fibers in association with optic disk drusen ⬇️

artículo científico publicado el 19 de noviembre de 2010

Adenoviral-mediated modulation of Sim1 expression in the paraventricular nucleus affects food intake.

artículo científico publicado en 2006

Alterations of visual and auditory evoked potentials in fragile X syndrome

artículo científico publicado en 2014

Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity

artículo científico publicado en 2017

Analysis of the SIM1 contribution to polygenic obesity in the French population

artículo científico publicado en 2010

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

artículo científico

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach

artículo científico publicado en 2018

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

scientific article published on 16 May 2019

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

artículo científico publicado en 2018

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation ⬇️

artículo científico publicado en 2011

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2019

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

artículo científico publicado en 2014

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

artículo científico publicado en 2009

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism

artículo científico publicado en 2011

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

artículo científico publicado en 2010

De novo mutations in SYNGAP1 associated with non-syndromic mental retardation

artículo científico publicado en 2010

De novo mutations in moderate or severe intellectual disability

artículo científico publicado en 2014

De novo truncating mutation in Kinesin 17 associated with schizophrenia

artículo científico publicado en 2010

Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

artículo científico publicado en 2016

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Distinct Patterns of Repetition Suppression in Fragile X Syndrome, Down Syndrome, Tuberous Sclerosis Complex and Mutations in SYNGAP1

artículo científico publicado en 2020

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

artículo científico publicado en 2017

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

artículo científico publicado en 2006

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

scientific journal article

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

artículo científico publicado en 2013

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

artículo científico publicado en 2017

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

artículo científico publicado en 2020

FHF1 (FGF12) epileptic encephalopathy.

artículo científico publicado en 2016

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

artículo científico publicado en 2014

FOXP1-related intellectual disability syndrome: a recognisable entity

artículo científico publicado en 2017

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

artículo científico publicado en 2017

G protein-coupled receptor-dependent development of human frontal cortex

artículo científico publicado en 2004

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

artículo científico publicado en 2016

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

artículo científico publicado en 2017

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

artículo científico publicado en 2018

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Homozygous deletion of Tenascin-R in a patient with intellectual disability ⬇️

artículo científico publicado el 22 de junio de 2012

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

artículo científico publicado en 2010

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2018

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

artículo científico publicado en 2012

Identification of Novel Mutations ConfirmsPDE4Das a Major Gene Causing Acrodysostosis

article

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

artículo científico publicado en 2012

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

artículo científico publicado en 2012

Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus

artículo científico publicado en 2009

Intellectual disability without epilepsy associated with STXBP1 disruption

artículo científico publicado en 2011

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

artículo científico publicado en 2016

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

artículo científico publicado en 2015

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

scientific article published on 22 August 2018

Laminar organization of the early developing anterior hypothalamus

artículo científico publicado en 2006

Looking for trouble: a search for developmental defects of the hypothalamus

artículo científico publicado en 2005

Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss ⬇️

artículo científico publicado el 16 de septiembre de 2010

Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage

artículo científico publicado en 2008

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA SynthetaseIARS2in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

article

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

artículo científico publicado en 2014

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

scientific article published on 25 April 2019

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

artículo científico publicado en 2012

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

artículo científico publicado en 2014

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

artículo científico publicado en 2009

Mutations in TMEM231 cause Joubert syndrome in French Canadians

artículo científico publicado en 2012

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

artículo científico publicado en 2010

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

scientific journal article

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome ⬇️

artículo científico publicado el 27 de febrero de 2011

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

artículo científico publicado en 2008

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

artículo científico publicado en 2006

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

artículo científico publicado en 2015

No association between SRGAP3/MEGAP haploinsufficiency and mental retardation.

artículo científico publicado en 2009

Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

artículo científico publicado en 2015

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

scientific article published on 01 January 2010

Obstetric US: watch the fetal hands

artículo científico publicado en 2006

Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation

artículo científico publicado en 2017

Overstressed response to EIF2S3 variants in MEHMO syndrome

artículo científico publicado en 2017

Polygenic risk scores of several subtypes of epilepsies in a founder population

scientific article published on 27 March 2020

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

artículo científico publicado en 2013

Recessive mutations in VPS13D cause childhood-onset movement disorders

artículo científico publicado en 2018

Recurrent pancreatitis in mitochondrial cytopathy

artículo científico publicado en 2006

Regionalization of the anterior hypothalamus in the chick embryo

artículo científico publicado en 2005

Regulatory interaction between arylhydrocarbon receptor and SIM1, two basic helix-loop-helix PAS proteins involved in the control of food intake

artículo científico publicado en 2003

Risk of congenital heart defects is influenced by genetic variation in folate metabolism

artículo científico publicado en 2012

SHANK1 Deletions in Males with Autism Spectrum Disorder

artículo científico publicado en 2012

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

artículo científico publicado en 2014

SYNGAP1-Related Intellectual Disability

Sim1 and Sim2 are required for the correct targeting of mammillary body axons

artículo científico publicado en 2005

Sim2 contributes to neuroendocrine hormone gene expression in the anterior hypothalamus

artículo científico publicado en 2004

Sim2 mutants have developmental defects not overlapping with those of Sim1 mutants

scientific journal article

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

artículo científico publicado en 2013

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects

artículo científico publicado en 2009

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

artículo científico publicado en 2015

The clinical spectrum of nodular heterotopias in children: Report of 31 patients ⬇️

artículo científico publicado el 14 de febrero de 2011

The genetic landscape of infantile spasms

article

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

artículo científico publicado en 2011

Whole exome sequencing identifies novel predisposing genes in neural tube defects

artículo científico publicado en 2018

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

artículo científico publicado en 2015

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans

artículo científico publicado en 2013

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

artículo científico publicado en 2004

X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations

scientific article published on 09 September 2011

Lista de obras de

3D Cohort Study: The Integrated Research Network in Perinatology of Quebec and Eastern Ontario

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

A framework for an evidence-based gene list relevant to autism spectrum disorder

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Acquired myelinated nerve fibers in association with optic disk drusen ⬇️

Adenoviral-mediated modulation of Sim1 expression in the paraventricular nucleus affects food intake.

Alterations of visual and auditory evoked potentials in fragile X syndrome

Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity

Analysis of the SIM1 contribution to polygenic obesity in the French population

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation ⬇️

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

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

De novo mutations in SYNGAP1 associated with non-syndromic mental retardation

De novo mutations in moderate or severe intellectual disability

De novo truncating mutation in Kinesin 17 associated with schizophrenia

Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.

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

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

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

Distinct Patterns of Repetition Suppression in Fragile X Syndrome, Down Syndrome, Tuberous Sclerosis Complex and Mutations in SYNGAP1

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

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

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

FHF1 (FGF12) epileptic encephalopathy.

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

FOXP1-related intellectual disability syndrome: a recognisable entity

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

G protein-coupled receptor-dependent development of human frontal cortex

Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

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

Homozygous deletion of Tenascin-R in a patient with intellectual disability ⬇️

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

Identification of Novel Mutations ConfirmsPDE4Das a Major Gene Causing Acrodysostosis

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

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus

Intellectual disability without epilepsy associated with STXBP1 disruption

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Laminar organization of the early developing anterior hypothalamus

Looking for trouble: a search for developmental defects of the hypothalamus

Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus

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

Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss ⬇️

Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA SynthetaseIARS2in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

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

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

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

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome ⬇️