Lista de obras -

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

artículo científico publicado en 2012

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

artículo científico publicado en 2015

A mega-analysis of genome-wide association studies for major depressive disorder

artículo científico publicado en 2012

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family

artículo científico publicado en 2013

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

artículo científico publicado en 2008

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

artículo científico publicado en 2021

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

artículo científico publicado en 2018

Biallelic variants in KIF14 cause intellectual disability with microcephaly

artículo científico publicado en 2018

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

artículo científico publicado en 2017

Biased allelic expression in human primary fibroblast single cells

artículo científico publicado en 2014

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

article

Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences

artículo científico publicado en 2011

Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

artículo científico publicado en 2015

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

artículo científico publicado en 2013

Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

artículo científico publicado en 2015

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

artículo científico publicado en 2015

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

artículo científico publicado en 2014

Domains of genome-wide gene expression dysregulation in Down's syndrome.

artículo científico publicado en 2014

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

artículo científico publicado en 2016

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

artículo científico publicado en 2019

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

artículo científico publicado en 2011

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes

artículo científico publicado en 2014

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

scientific article published on 30 August 2014

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

artículo científico publicado en 2014

Familial epilepsy in Algeria: Clinical features and inheritance profiles

artículo científico publicado en 2015

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

artículo científico publicado en 2014

Galanin pathogenic mutations in temporal lobe epilepsy

artículo científico publicado en 2015

Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior

artículo científico publicado en 2009

Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral blood

scientific article published on 01 August 2006

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family

artículo científico publicado en 2010

Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis

artículo científico publicado en 2012

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

artículo científico publicado en 2010

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

artículo científico publicado en 2016

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

artículo científico publicado en 2015

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.

artículo científico publicado en 2003

Identification of additional transcripts in the Williams-Beuren syndrome critical region

artículo científico publicado en 2002

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

artículo científico publicado en 2004

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

artículo científico publicado en 2014

Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss

artículo científico publicado en 2007

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

artículo científico publicado en 2013

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

artículo científico

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

artículo científico publicado en 2013

Next generation diagnostics on cardiomyopathy

scholarly article by Jean-Louis Blouin published in January 2014

Nineteen additional unpredicted transcripts from human chromosome 21

artículo científico publicado en 2002

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

artículo científico publicado en 2018

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

artículo científico publicado en 2013

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

artículo científico publicado en 2016

Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21.

artículo científico publicado en 2015

Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling

artículo científico publicado en 2003

SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology

artículo científico publicado en 2009

Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victims

artículo científico publicado en 2010

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

artículo científico publicado en 2014

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

scientific article published on 03 October 2019

TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm.

artículo científico publicado en 2013

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development

artículo científico publicado en 2004

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

artículo científico publicado en 2002

Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice

artículo científico publicado en 2010

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

artículo científico publicado en 2015

Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression

artículo científico publicado en 2012

Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing

artículo científico publicado en 2011

Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput.

artículo científico publicado en 2005

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

artículo científico publicado en 2018

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

artículo científico publicado en 2017

Lista de obras de

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

A mega-analysis of genome-wide association studies for major depressive disorder

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

Biased allelic expression in human primary fibroblast single cells

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences

Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Domains of genome-wide gene expression dysregulation in Down's syndrome.

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

Familial epilepsy in Algeria: Clinical features and inheritance profiles

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

Galanin pathogenic mutations in temporal lobe epilepsy

Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior

Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral blood

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family

Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.

Identification of additional transcripts in the Williams-Beuren syndrome critical region

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

Next generation diagnostics on cardiomyopathy

Nineteen additional unpredicted transcripts from human chromosome 21

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21.

Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling

SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology

Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victims

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm.

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression

Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing

Universal fluorescent labeling of PCR products for DHPLC analysis: reducing cost and increasing sample throughput.

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.