Lista de obras -

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

artículo científico publicado en 2017

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

artículo científico publicado en 2011

A genome-wide investigation of SNPs and CNVs in schizophrenia

artículo científico publicado en 2009

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

artículo científico publicado en 2009

A whole-genome analysis of premature termination codons

artículo científico publicado en 2011

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

artículo científico publicado en 2007

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Annotating pathogenic non-coding variants in genic regions

artículo científico

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2019

Autism and developmental disability caused by KCNQ3 gain-of-function variants

scientific article published on 26 June 2019

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

artículo científico publicado en 2015

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

scientific journal article

Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

artículo científico publicado en 2017

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

artículo científico publicado en 2018

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

artículo científico publicado en 2012

De novo mutations in epileptic encephalopathies

artículo científico publicado en 2013

Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis

artículo científico publicado en 2016

Distinct neurological disorders with ATP1A3 mutations

artículo científico publicado en 2014

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

artículo científico publicado en 2015

Ethical challenges in genotype-driven research recruitment

artículo científico publicado en 2010

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

artículo científico publicado en 2012

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

artículo científico publicado en 2012

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

artículo científico publicado en 2012

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

artículo científico publicado en 2013

Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance

artículo científico publicado en 2009

Genic intolerance to functional variation and the interpretation of personal genomes

artículo científico publicado en 2013

Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals

artículo científico publicado en 2010

Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions

artículo científico publicado en 2012

Genome-wide scan of copy number variation in late-onset Alzheimer's disease

artículo científico publicado en 2010

Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery

artículo científico publicado en 2011

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

artículo científico publicado en 2016

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

artículo científico publicado en 2011

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

artículo científico publicado en 2013

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

artículo científico publicado en 2016

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

article

Neuronal nitric oxide modulates morphine antinociceptive tolerance by enhancing constitutive activity of the mu-opioid receptor

artículo científico publicado en 2005

Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

artículo científico publicado en 2007

Postmortem delay has minimal effect on brain RNA integrity

artículo científico publicado en 2007

Primer Part 1-The building blocks of epilepsy genetics

artículo científico publicado en 2016

Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium

artículo científico publicado en 2012

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

artículo científico publicado en 2010

SLC25A22 is a novel gene for migrating partial seizures in infancy.

artículo científico publicado en 2013

SVA: software for annotating and visualizing sequenced human genomes

artículo científico publicado en 2011

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

artículo científico publicado en 2010

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

artículo científico publicado en 2018

Somatic activation of AKT3 causes hemispheric developmental brain malformations

artículo científico publicado en 2012

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

artículo científico publicado en 2017

The characterization of twenty sequenced human genomes

artículo científico publicado en 2010

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2018

The genetics of neuropsychiatric diseases: looking in and beyond the exome

artículo científico

Tissue-specific genetic control of splicing: implications for the study of complex traits

artículo científico publicado en 2008

Using ERDS to infer copy-number variants in high-coverage genomes

artículo científico publicado en 2012

Utilizing population controls in rare-variant case-parent association tests

artículo científico publicado en 2014

Lista de obras de

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

A genome-wide investigation of SNPs and CNVs in schizophrenia

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB

A whole-genome analysis of premature termination codons

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

Analysis of shared heritability in common disorders of the brain

Annotating pathogenic non-coding variants in genic regions

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Autism and developmental disability caused by KCNQ3 gain-of-function variants

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

De novo mutations in epileptic encephalopathies

Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis

Distinct neurological disorders with ATP1A3 mutations

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

Ethical challenges in genotype-driven research recruitment

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).

Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance

Genic intolerance to functional variation and the interpretation of personal genomes

Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals

Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions

Genome-wide scan of copy number variation in late-onset Alzheimer's disease

Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Neuronal nitric oxide modulates morphine antinociceptive tolerance by enhancing constitutive activity of the mu-opioid receptor

Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

Postmortem delay has minimal effect on brain RNA integrity

Primer Part 1-The building blocks of epilepsy genetics

Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

SLC25A22 is a novel gene for migrating partial seizures in infancy.

SVA: software for annotating and visualizing sequenced human genomes

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.

Somatic activation of AKT3 causes hemispheric developmental brain malformations

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

The characterization of twenty sequenced human genomes

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

The genetics of neuropsychiatric diseases: looking in and beyond the exome

Tissue-specific genetic control of splicing: implications for the study of complex traits

Using ERDS to infer copy-number variants in high-coverage genomes

Utilizing population controls in rare-variant case-parent association tests