Lista de obras -

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

artículo científico publicado en 2018

A balance between NF-Y and p53 governs the pro- and anti-apoptotic transcriptional response.

artículo científico publicado en 2008

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A copy number variation map of the human genome

artículo científico publicado en 2015

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome

artículo científico publicado en 2017

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

artículo científico publicado en 2012

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

artículo científico publicado en 2017

A large data resource of genomic copy number variation across neurodevelopmental disorders

artículo científico publicado en 2019

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

artículo científico publicado en 2017

A novel amplification-based approach to enable gene expression profiling from small clinical tumor specimens

artículo científico publicado en 2015

ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping

scientific article published on 08 April 2020

Abstract NG05: TP53-mediated human cancer susceptibility is defined by epigenetic dysregulation of microRNA-34A

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

artículo científico publicado en 2016

An application of kernel methods to gene cluster temporal meta-analysis

article

An ontological modeling approach to cerebrovascular disease studies: the NEUROWEB case.

artículo científico

Analysis of the gene expression profile of mouse male meiotic germ cells

artículo científico publicado en 2004

B cell acute lymphoblastic leukemia cells mediate RANK-RANKL-dependent bone destruction

scientific article published on 01 September 2020

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma

artículo científico publicado en 2015

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

artículo científico publicado en 2014

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

artículo científico publicado en 2016

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

artículo científico publicado en 2015

Combined immunodeficiency and atopy caused by a dominant negative mutation in CARD11.

artículo científico publicado en 2017

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

artículo científico publicado en 2020

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

article

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

artículo científico publicado en 2015

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

artículo científico publicado en 2016

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Copy Number Variant Analysis Of Psychiatric Traits In A Community-Based Pediatric Sample

Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets

artículo científico publicado en 2014

Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism

artículo científico publicado en 2017

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

artículo científico publicado en 2017

Deep learning in biomedicine

artículo científico publicado en 2018

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

artículo científico publicado en 2013

Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias.

artículo científico publicado en 2011

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features

artículo científico publicado en 2017

Enrichment Map - a Cytoscape app to visualize and explore OMICs pathway enrichment results

artículo científico publicado en 2014

Enrichment map: a network-based method for gene-set enrichment visualization and interpretation

artículo científico publicado en 2010

Evaluation of gene-based association tests for analyzing rare variants using Genetic Analysis Workshop 18 data

artículo científico publicado en 2014

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences

artículo científico publicado en 2020

Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation

artículo científico publicado en 2014

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

artículo científico publicado en 2020

Genome-wide characteristics of de novo mutations in autism

artículo científico publicado en 2016

Global proteomic profiling and enrichment maps of dilated cardiomyopathy

artículo científico publicado en 2013

HG-53HYPERMUTATION AND NEOANTIGEN FORMATION PREDICT RESPONSE TO IMMUNE CHECKPOINT INHIBITION IN CHILDHOOD BIALLELIC MISMATCH REPAIR DEFICIENT GLIOBLASTOMA.

artículo científico publicado en 2016

How to visually interpret biological data using networks

artículo científico publicado en 2009

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

artículo científico publicado en 2016

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

artículo científico publicado en 2017

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

artículo científico publicado en 2017

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

artículo científico publicado en 2016

Integration of Genomic and Transcriptional Features in Pancreatic Cancer Reveals Increased Cell Cycle Progression in Metastases

scientific article published on 24 January 2019

LG-01BRAF MUTATION AND CDKN2A DELETION DEFINE A CLINICALLY DISTINCT SUBGROUP OF CHILDHOOD SECONDARY HIGH-GRADE GLIOMA.

artículo científico publicado en 2015

MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

artículo científico publicado en 2014

MicroRNA Expression during Bovine Oocyte Maturation and Fertilization

artículo científico publicado en 2016

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing

artículo científico publicado en 2016

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

artículo científico publicado en 2015

New p63 targets in keratinocytes identified by a genome-wide approach.

artículo científico publicado en 2006

Ontological modeling at a domain interface: bridging clinical and biomolecular knowledge

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

artículo científico publicado en 2013

Pathway analysis of dilated cardiomyopathy using global proteomic profiling and enrichment maps

artículo científico publicado en 2010

Pathway enrichment analysis and visualization of omics data using g:Profiler, GSEA, Cytoscape and EnrichmentMap

artículo científico publicado en 2019

Pathway enrichment analysis of -omics data

Performance of case-control rare copy number variation annotation in classification of autism

artículo científico publicado en 2015

Preferential expression of IGHV and IGHD encoding antibodies with exceptionally long CDR3H and a rapid global shift in transcriptome characterizes development of bovine neonatal immunity.

artículo científico publicado en 2016

Protein kinase C epsilon and genetic networks in osteosarcoma metastasis

artículo científico publicado en 2013

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

artículo científico publicado en 2014

RNA-Seq analysis of the parietal cortex in Alzheimer's disease reveals alternatively spliced isoforms related to lipid metabolism

artículo científico

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

artículo científico publicado en 2017

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

artículo científico publicado en 2012

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

artículo científico publicado en 2013

Systems analysis reveals down-regulation of a network of pro-survival miRNAs drives the apoptotic response in dilated cardiomyopathy

artículo científico publicado en 2014

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

artículo científico publicado en 2018

The effects of RelB deficiency on lymphocyte development and function

artículo científico publicado en 2015

The histone-like NF-Y is a bifunctional transcription factor

artículo científico publicado en 2008

Transcriptional network of p63 in human keratinocytes.

artículo científico publicado en 2009

Transcriptome-wide characterization of the endogenous miR-34A-p53 tumor suppressor network

artículo científico publicado en 2016

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

artículo científico publicado en 2016

Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

artículo científico publicado en 2014

Visualizing gene-set enrichment results using the Cytoscape plug-in enrichment map

artículo científico publicado en 2011

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

artículo científico publicado en 2016

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

artículo científico publicado en 2017

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

artículo científico publicado en 2015

Whole-genome sequencing of quartet families with autism spectrum disorder

artículo científico publicado en 2015

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease

artículo científico publicado en 2017

WordCloud: a Cytoscape plugin to create a visual semantic summary of networks

artículo científico publicado en 2011

Lista de obras de

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

A balance between NF-Y and p53 governs the pro- and anti-apoptotic transcriptional response.

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A copy number variation map of the human genome

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

A large data resource of genomic copy number variation across neurodevelopmental disorders

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

A novel amplification-based approach to enable gene expression profiling from small clinical tumor specimens

ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping

Abstract NG05: TP53-mediated human cancer susceptibility is defined by epigenetic dysregulation of microRNA-34A

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

An application of kernel methods to gene cluster temporal meta-analysis

An ontological modeling approach to cerebrovascular disease studies: the NEUROWEB case.

Analysis of the gene expression profile of mouse male meiotic germ cells

B cell acute lymphoblastic leukemia cells mediate RANK-RANKL-dependent bone destruction

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Combined immunodeficiency and atopy caused by a dominant negative mutation in CARD11.

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Copy Number Variant Analysis Of Psychiatric Traits In A Community-Based Pediatric Sample

Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets

Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

Deep learning in biomedicine

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features

Enrichment Map - a Cytoscape app to visualize and explore OMICs pathway enrichment results

Enrichment map: a network-based method for gene-set enrichment visualization and interpretation

Evaluation of gene-based association tests for analyzing rare variants using Genetic Analysis Workshop 18 data

Functional impact of global rare copy number variation in autism spectrum disorders

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences

Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation, and gene annotation

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Genome-wide characteristics of de novo mutations in autism

Global proteomic profiling and enrichment maps of dilated cardiomyopathy

HG-53HYPERMUTATION AND NEOANTIGEN FORMATION PREDICT RESPONSE TO IMMUNE CHECKPOINT INHIBITION IN CHILDHOOD BIALLELIC MISMATCH REPAIR DEFICIENT GLIOBLASTOMA.

How to visually interpret biological data using networks

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Integration of Genomic and Transcriptional Features in Pancreatic Cancer Reveals Increased Cell Cycle Progression in Metastases

LG-01BRAF MUTATION AND CDKN2A DELETION DEFINE A CLINICALLY DISTINCT SUBGROUP OF CHILDHOOD SECONDARY HIGH-GRADE GLIOMA.

MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

MicroRNA Expression during Bovine Oocyte Maturation and Fertilization

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

New p63 targets in keratinocytes identified by a genome-wide approach.

Ontological modeling at a domain interface: bridging clinical and biomolecular knowledge

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

Pathway analysis of dilated cardiomyopathy using global proteomic profiling and enrichment maps

Pathway enrichment analysis and visualization of omics data using g:Profiler, GSEA, Cytoscape and EnrichmentMap

Pathway enrichment analysis of -omics data

Performance of case-control rare copy number variation annotation in classification of autism

Preferential expression of IGHV and IGHD encoding antibodies with exceptionally long CDR3H and a rapid global shift in transcriptome characterizes development of bovine neonatal immunity.

Protein kinase C epsilon and genetic networks in osteosarcoma metastasis

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease

RNA-Seq analysis of the parietal cortex in Alzheimer's disease reveals alternatively spliced isoforms related to lipid metabolism

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Systems analysis reveals down-regulation of a network of pro-survival miRNAs drives the apoptotic response in dilated cardiomyopathy

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

The effects of RelB deficiency on lymphocyte development and function

The histone-like NF-Y is a bifunctional transcription factor

Transcriptional network of p63 in human keratinocytes.

Transcriptome-wide characterization of the endogenous miR-34A-p53 tumor suppressor network

Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation