Lista de obras -

ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2

artículo científico publicado en 2022

A blood-based gene expression and signaling pathway analysis to differentiate between high and low grade gliomas

artículo científico publicado en 2016

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

artículo científico publicado en 2011

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

artículo científico publicado en 2017

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

artículo científico publicado en 2015

A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy

ADCY5 mutations are another cause of benign hereditary chorea

artículo científico publicado en 2015

ATP regulates the differentiation of mammalian skeletal muscle by activation of a P2X5 receptor on satellite cells

scientific journal article

Abundant and dynamic expression of G protein‐coupled P2Y receptors in mammalian development ⬇️

artículo científico publicado el 1 de octubre de 2003

Age-associated changes in gene expression in human brain and isolated neurons

artículo científico publicado en 2012

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

artículo científico publicado en 2017

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

artículo científico publicado en 2020

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

artículo científico publicado en 2014

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Characterization of calcium-independent purinergic receptor-mediated apoptosis in hormone-refractory prostate cancer

artículo científico publicado en 2007

Common genetic variants influence human subcortical brain structures

artículo científico publicado en 2015

Correction to: Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis

artículo científico publicado en 2019

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

artículo científico publicado en 2012

Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12].

artículo científico publicado en 2015

Dementia risk in Parkinson's disease is associated with interhemispheric connectivity loss and determined by regional gene expression

artículo científico publicado en 2020

Differences in network controllability and regional gene expression underlie hallucinations in Parkinson's disease

artículo científico publicado en 2020

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

artículo científico publicado en 2017

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

scientific article published on 21 August 2020

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

artículo científico publicado en 2013

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

artículo científico publicado en 2016

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

artículo científico publicado en 2013

Gene co-expression networks shed light into diseases of brain iron accumulation

artículo científico publicado en 2015

Gene expression changes with age in skin, adipose tissue, blood and brain

artículo científico publicado en 2013

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

artículo científico publicado en 2020

Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis

artículo científico publicado en 2014

Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk

artículo científico publicado en 2019

Genetic variability in the regulation of gene expression in ten regions of the human brain

artículo científico publicado en 2014

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

artículo científico publicado en 2021

Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases

artículo científico publicado en 2016

Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases

artículo científico publicado en 2009

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage ⬇️

artículo científico publicado en 2021

Identification of common variants associated with human hippocampal and intracranial volumes

artículo científico publicado en 2012

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

artículo científico publicado en 2020

Incomplete annotation of disease-associated genes is limiting our understanding of Mendelian and complex neurogenetic disorders

article

Informing disease modelling with brain-relevant functional genomic annotations

artículo científico publicado en 2019

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

artículo científico publicado en 2013

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia

artículo científico publicado en 2014

Insights into TREM2 biology by network analysis of human brain gene expression data

artículo científico publicado en 2013

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

artículo científico publicado en 2012

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis

artículo científico publicado en 2012

Large-scale visualisation of α-synuclein oligomers in Parkinson's disease brain tissue

Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes

artículo científico publicado en 2022

Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer's disease mouse models

artículo científico publicado en 2015

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

artículo científico publicado en 2012

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

artículo científico publicado en 2021

Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging

artículo científico publicado en 2017

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

artículo científico publicado en 2016

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

article

Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease

artículo científico publicado en 2021

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability

article

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

artículo científico publicado en 2012

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

artículo científico publicado en 2015

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

artículo científico publicado en 2017

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome.

artículo científico publicado en 2015

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

artículo científico publicado en 2014

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

artículo científico publicado en 2013

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

artículo científico publicado en 2017

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

artículo científico publicado en 2013

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

artículo científico publicado en 2016

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies

artículo científico publicado en 2020

P2Y purinergic receptors regulate the growth of human melanomas

artículo científico publicado en 2004

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

artículo científico publicado en 2019

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

artículo científico publicado en 2019

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

artículo científico publicado en 2011

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

artículo científico publicado en 2011

Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation

scientific article published on 29 February 2020

Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases

artículo científico publicado en 2016

Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis

artículo científico publicado en 2018

Purinergic receptor-mediated effects of ATP in high-grade bladder cancer

artículo científico publicado en 2007

Purinoceptor expression in regenerating skeletal muscle in the mdx mouse model of muscular dystrophy and in satellite cell cultures

artículo científico publicado en 2004

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

artículo científico publicado en 2011

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

article

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

artículo científico publicado en 2014

Recursive splicing in long vertebrate genes

artículo científico publicado en 2015

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

artículo científico publicado en 2020

Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease

scientific article published on 30 October 2020

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

artículo científico publicado en 2013

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

artículo científico publicado en 2018

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

artículo científico publicado en 2014

The ENIGMA-Epilepsy working group: Mapping disease from large data sets

artículo científico publicado en 2020

The diversity ofSNCAtranscripts in neurons, and its impact on antisense oligonucleotide therapeutics

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

artículo científico publicado en 2017

Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy

artículo científico publicado en 2019

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Whole genome expression as a quantitative trait

artículo científico publicado en 2009

Widespread sex differences in gene expression and splicing in the adult human brain

artículo científico publicado en 2013

aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3

artículo científico publicado en 2023

Lista de obras de

<i>ggtranscript</i>: an R package for the visualization and interpretation of transcript isoforms using <i>ggplot2</i>

A blood-based gene expression and signaling pathway analysis to differentiate between high and low grade gliomas

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy

ADCY5 mutations are another cause of benign hereditary chorea

ATP regulates the differentiation of mammalian skeletal muscle by activation of a P2X5 receptor on satellite cells

Abundant and dynamic expression of G protein‐coupled P2Y receptors in mammalian development ⬇️

Age-associated changes in gene expression in human brain and isolated neurons

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

Analysis of shared heritability in common disorders of the brain

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Characterization of calcium-independent purinergic receptor-mediated apoptosis in hormone-refractory prostate cancer

Common genetic variants influence human subcortical brain structures

Correction to: Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12].

Dementia risk in Parkinson's disease is associated with interhemispheric connectivity loss and determined by regional gene expression

Differences in network controllability and regional gene expression underlie hallucinations in Parkinson's disease

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Gene co-expression networks shed light into diseases of brain iron accumulation

Gene expression changes with age in skin, adipose tissue, blood and brain

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis

Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk

Genetic variability in the regulation of gene expression in ten regions of the human brain

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases

Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage ⬇️

Identification of common variants associated with human hippocampal and intracranial volumes

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

Incomplete annotation of disease-associated genes is limiting our understanding of Mendelian and complex neurogenetic disorders

Informing disease modelling with brain-relevant functional genomic annotations

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia

Insights into TREM2 biology by network analysis of human brain gene expression data

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis

Large-scale visualisation of α-synuclein oligomers in Parkinson's disease brain tissue

Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes

Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer's disease mouse models

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Neuronal intranuclear inclusion disease is genetically heterogeneous

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Novel genetic loci associated with hippocampal volume

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies

P2Y purinergic receptors regulate the growth of human melanomas

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation

Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases

Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis

Purinergic receptor-mediated effects of ATP in high-grade bladder cancer

Purinoceptor expression in regenerating skeletal muscle in the mdx mouse model of muscular dystrophy and in satellite cell cultures