Daniele Merico

发表

Reference Ontology Design for a Neurovascular Knowledge Network

Giancarlo Mauri, Gianluca Colombo, Daniele Merico, 2007, MTSR.

Manuscript Word Count: Abstract: 193; Text, with citations, without references: 3921 Number of Tables: 2; Supplemental Files: Yes Whole-genome sequencing suggests schizophrenia risk mechanisms in humans with 22q11.2 deletion syndrome

Brendan J. Frey, Daniele Merico, Babak Alipanahi, 2015 .

Ontological Modelling for Neurovascular Disease Study: Issues in the Adoption of Description Logic

Giancarlo Mauri, Flavio De Paoli, Gianluca Colombo, 2007, Description Logics.

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

Gary D Bader, Daniele Merico, Ruth Isserlin, 2011, Methods in molecular biology.

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

Giancarlo Mauri, Italo Zoppis, Daniele Merico, 2010, Comput. Oper. Res..

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

Gary D. Bader, Gary D Bader, Daniele Merico, 2011, Source Code for Biology and Medicine.

An ontological modeling approach to cerebrovascular disease studies: The NEUROWEB case

Flavio De Paoli, Aad van der Lugt, John Ellul, 2010, J. Biomed. Informatics.

Discovering Relations Among GO-Annotated Clusters by Graph Kernel Methods

Giancarlo Mauri, Bud Mishra, Italo Zoppis, 2007, ISBRA.

Evaluating Graph Kernel Methods for Relation Discovery in GO-Annotated Clusters

Giancarlo Mauri, Italo Zoppis, Daniele Merico, 2007, KES.

Deep learning in biomedicine

Michael Wainberg, Daniele Merico, Andrew Delong, 2018, Nature Biotechnology.

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

Giancarlo Mauri, Flavio De Paoli, Gianluca Colombo, 2009, The Knowledge Engineering Review.

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

Gary D. Bader, Gary D Bader, Daniele Merico, 2014, F1000Research.

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

Daniele Merico, Joseph Piven, Veronica J. Vieland, 2014, Human Genetics.

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

Daniele Merico, Gregory Costain, Lucas Ogura, 2014, Front. Neurol..

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

Daniele Merico, Carol Imbriano, Enrico Tagliafico, 2008, Nucleic acids research.

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

Wei Cheng, Jianxin Shi, Elvira Bramon, 2016, Nature Genetics.

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

Daniele Merico, Christian R Marshall, Stephen W Scherer, 2017, Genetics in Medicine.

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

Daniele Merico, Christian R. Marshall, Tracy Yuen, 2012, PLoS genetics.

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

Roland Arnold, Richard G Grundy, Daniele Merico, 2015, Nature Genetics.

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

Daniele Merico, Bhooma Thiruvahindrapuram, Stephen W Scherer, 2015, Nature Communications.

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

Daniele Merico, Michael D. Wilson, Eleonora Maino, 2017, Nature Medicine.

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

Daniele Merico, Christian R Marshall, Tracy Yuen, 2013, Human molecular genetics.

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

Daniele Merico, Marc Fiume, John Wei, 2018, Canadian Medical Association Journal.

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

Daniele Merico, Raveen Basran, Christian R Marshall, 2017, Genetics in Medicine.

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

Daniele Merico, Pingzhao Hu, Christian R Marshall, 2014, Nature Genetics.

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

Daniele Merico, Christian R Marshall, Babak Alipanahi, 2015, G3: Genes, Genomes, Genetics.

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Michael Brudno, Daniele Merico, Christian R Marshall, 2016, npj Genomic Medicine.

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

Daniele Merico, John Wei, Christian R. Marshall, 2017, Genome Medicine.

METADATA AND ONTOLOGIES FOR HEALTH

Michaela Gündel, Gianluca Colombo, Daniele Merico, 2014 .

Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets

Daniele Merico, John Wei, Christian R. Marshall, 2015, Biological Psychiatry.

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

Daniele Merico, John Wei, Christian R Marshall, 2015, JAMA.