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Lista de obras de Morris A Swertz

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

artículo científico publicado en 2017

A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans.

artículo científico publicado en 2016

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

scientific article published on 06 October 2016

A high-throughput processing service for retention time alignment of complex proteomics and metabolomics LC-MS data

artículo científico publicado en 2011

A novel biomarker panel for irritable bowel syndrome and the application in the general population

artículo científico publicado en 2016

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

artículo científico publicado en 2016

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

Addendum: The FAIR Guiding Principles for scientific data management and stewardship

article by Mark D Wilkinson et al published 19 March 2019 in Scientific Data

Age-related accrual of methylomic variability is linked to fundamental ageing mechanisms

artículo científico publicado en 2016

Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes

artículo científico publicado en 2015

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples

artículo científico publicado en 2016

BBMRI-ERIC's contributions to research and knowledge exchange on COVID-19

scientific article published on 22 May 2020

Beyond standardization: dynamic software infrastructures for systems biology

artículo científico publicado en 2007

BiobankConnect: software to rapidly connect data elements for pooled analysis across biobanks using ontological and lexical indexing

artículo científico publicado en 2014

BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration

artículo científico publicado en 2017

Bioinformatics tools and database resources for systems genetics analysis in mice--a short review and an evaluation of future needs

artículo científico publicado en 2012

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

artículo científico publicado en 2020

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

artículo científico publicado en 2017

Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts

artículo científico publicado en 2015

Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

artículo científico publicado en 2015

Characteristics of de novo structural changes in the human genome

artículo científico publicado en 2015

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

artículo científico publicado en 2016

Cohort Profile: LifeLines, a three-generation cohort study and biobank

artículo científico publicado en 2014

Cohort profile: LifeLines DEEP, a prospective, general population cohort study in the northern Netherlands: study design and baseline characteristics

artículo científico publicado en 2015

Complex nature of SNP genotype effects on gene expression in primary human leucocytes

artículo científico publicado en 2009

Consensus and conflict cards for metabolic pathway databases

artículo científico publicado en 2013

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2016

Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

artículo científico publicado en 2017

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency

artículo científico publicado en 2013

Diagnostic interpretation of array data using public databases and internet sources

artículo científico publicado en 2012

Differential Effects of Environmental and Genetic Factors on T and B Cell Immune Traits

artículo científico publicado en 2016

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

artículo científico publicado en 2016

Disease variants alter transcription factor levels and methylation of their binding sites

artículo científico publicado en 2016

Erratum: Corrigendum: Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi

article

Estimation of Genetic Relationships Between Individuals Across Cohorts and Platforms: Application to Childhood Height

artículo científico publicado en 2015

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

artículo científico publicado en 2015

Finding and sharing: new approaches to registries of databases and services for the biomedical sciences

artículo científico publicado en 2010

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant

artículo científico publicado en 2013

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

artículo científico publicado en 2015

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

article

GAVIN: Gene-Aware Variant INterpretation for medical sequencing

artículo científico publicado en 2017

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

scientific article published on 05 May 2020

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic evidence of assortative mating in humans

article

Genetic studies of body mass index yield new insights for obesity biology

artículo científico publicado en 2015

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

artículo científico publicado en 2015

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

artículo científico publicado en 2016

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

artículo científico publicado en 2017

Genome-wide patterns and properties of de novo mutations in humans

artículo científico publicado en 2015

Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration

artículo científico publicado en 2014

Global genetic robustness of the alternative splicing machinery in Caenorhabditis elegans

artículo científico publicado en 2010

Host and Environmental Factors Influencing Individual Human Cytokine Responses

artículo científico publicado en 2016

Identification of context-dependent expression quantitative trait loci in whole blood

artículo científico publicado en 2016

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

artículo científico publicado en 2017

Implementing Individually Tailored Prescription of Physical Activity in Routine Clinical Care: Protocol of the Physicians Implement Exercise = Medicine (PIE=M) Development and Implementation Project

artículo científico publicado en 2020

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

artículo científico publicado en 2014

Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

artículo científico publicado en 2019

Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis

article

Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi

artículo científico publicado en 2016

Interoperability and FAIRness through a novel combination of Web technologies ⬇️

artículo científico publicado en 2017

Interoperability and FAIRness through a novel combination of Web technologies

Interoperability and FAIRness through a novel combination of Web technologies

Interoperability and FAIRness through a novel combination of Web technologies

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm

artículo científico publicado en 2015

MOLGENIS catalogue

artículo científico publicado en 2015

MOLGENIS/OMX for multi-omics and personalized medicine

artículo científico publicado en 2015

MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks

artículo científico publicado en 2016

Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin

artículo científico publicado en 2016

Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels

artículo científico publicado en 2016

MetaNetwork: a computational protocol for the genetic study of metabolic networks

artículo científico publicado en 2007

Metabolic Age Based on the BBMRI-NL 1H-NMR Metabolomics Repository as Biomarker of Age-related Disease

artículo científico publicado en 2020

Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study

artículo científico publicado en 2017

Modifiers of mutant huntingtin aggregation: functional conservation of C. elegans-modifiers of polyglutamine aggregation

artículo científico publicado en 2011

Molecular Genetics Information System (MOLGENIS): alternatives in developing local experimental genomics databases

artículo científico publicado en 2004

Molgenis-impute: imputation pipeline in a box

artículo científico publicado en 2015

Mouse Resource Browser--a database of mouse databases

artículo científico

Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration

artículo científico publicado en 2019

Mutation update on the CHD7 gene involved in CHARGE syndrome

artículo científico publicado en 2012

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

artículo científico publicado en 2012

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

scientific article published on 05 December 2016

NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

scholarly article by Lennart F Johansson published in December 2018

Neurodegenerative diseases: Lessons from genome-wide screens in small model organisms

artículo científico publicado en 2009

New genetic loci link adipose and insulin biology to body fat distribution

artículo científico publicado en 2015

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

artículo científico publicado en 2018

Next-Gen Databasing Links Mutations with Prognosis and Clinical Outcome

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

artículo científico publicado en 2017

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

artículo científico publicado en 2012

OntoCAT – a simpler way to access ontology resources

OntoCAT – an integrated programming toolkit for common ontology application tasks

OntoCAT--simple ontology search and integration in Java, R and REST/JavaScript

artículo científico publicado en 2011

PeakML/mzMatch: a file format, Java library, R library, and tool-chain for mass spectrometry data analysis

artículo científico publicado en 2011

Population-based metagenomics analysis reveals markers for gut microbiome composition and diversity

artículo científico publicado en 2016

Population-specific genotype imputations using minimac or IMPUTE2.

artículo científico publicado en 2015

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

PyPedia: using the wiki paradigm as crowd sourcing environment for bioinformatics protocols

artículo científico publicado en 2015

RNA Sequencing Analysis of Intracranial Aneurysm Walls Reveals Involvement of Lysosomes and Immunoglobulins in Rupture

artículo científico publicado en 2016

SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data

artículo científico publicado en 2015

Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs.

artículo científico publicado en 2018

Solutions for data integration in functional genomics: a critical assessment and case study

artículo científico publicado en 2008

State-of-the-Art and Future Challenges in the Integration of Biobank Catalogues

artículo científico publicado en 2015

The ARVD/C genetic variants database: 2014 update

artículo científico publicado en 2015

The Data Use Ontology to streamline responsible access to human biomedical datasets

artículo científico publicado en 2021

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research

scientific article published on 13 October 2020

The FAIR Guiding Principles for scientific data management and stewardship

artículo científico publicado en 2016

The Genome of the Netherlands: design, and project goals

artículo científico publicado en 2014

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2015

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

artículo científico publicado en 2010

The effect of host genetics on the gut microbiome

artículo científico

The hybrid synthetic microdata platform: a method for statistical disclosure control

artículo científico publicado en 2015

The interaction of genetic predisposition and socioeconomic position with type 2 diabetes mellitus: cross-sectional and longitudinal analyses from the Lifelines Cohort and Biobank Study

artículo científico publicado en 2018

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

artículo científico publicado en 2011

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

artículo científico publicado en 2018

The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies

artículo científico publicado en 2014

Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core).

artículo científico publicado en 2016

Towards a MOLGENIS Based Computational Framework

Towards dynamic database infrastructures for mouse genetics

article

Towards the integration of mouse databases - definition and implementation of solutions to two use-cases in mouse functional genomics

artículo científico publicado en 2010

Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck

artículo científico publicado en 2016

Understanding human immune function using the resources from the Human Functional Genomics Project

artículo científico publicado en 2016

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

VarioML framework for comprehensive variation data representation and exchange

artículo científico publicado en 2012

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

artículo científico publicado en 2016

Workshop on laboratory protocol standards for the Molecular Methods Database

artículo científico publicado en 2012

Worm variation made accessible: Take your shopping cart to store, link, and investigate!

artículo científico publicado en 2014

WormQTL--public archive and analysis web portal for natural variation data in Caenorhabditis spp.

artículo científico publicado en 2012

WormQTLHD--a web database for linking human disease to natural variation data in C. elegans

artículo científico publicado en 2013

XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments

artículo científico publicado en 2010

designGG: an R-package and web tool for the optimal design of genetical genomics experiments

artículo científico publicado en 2009

ontoCAT: an R package for ontology traversal and search

artículo científico publicado en 2011

xQTL workbench: a scalable web environment for multi-level QTL analysis

artículo científico publicado en 2012

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