Annika Jacobsen

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 19 publications

FAIR in practice: minimum metadata schema for bioinformatics analytics by machines.

FAIR in practice: minimum metadata schema for bioinformatics analytics by machines.

Journal: Journal of biomedical semantics

Published: April 07, 2025

A collaborative network analysis for the interpretation of transcriptomics data in Huntington's disease.

A collaborative network analysis for the interpretation of transcriptomics data in Huntington's disease.

Journal: Scientific reports

Published: June 26, 2024

The use of foundational ontologies in biomedical research.

The use of foundational ontologies in biomedical research.

Journal: Journal of biomedical semantics

Published: August 04, 2022

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.

Journal: Orphanet journal of rare diseases

Published: April 21, 2022

Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic.

Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic.

Journal: Journal of biomedical semantics

Published: August 27, 2021

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.

Journal: Journal of biomedical semantics

Published: July 26, 2021

The de novo FAIRification process of a registry for vascular anomalies.

The de novo FAIRification process of a registry for vascular anomalies.

Journal: Orphanet journal of rare diseases

Published: March 18, 2021

De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data.

De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data.

Journal: Journal of biomedical informatics

Published: March 12, 2021

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.

Journal: Scientific data

Published: July 01, 2020

Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA).

Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA).

Journal: Studies in health technology and informatics

Published: June 25, 2020

A framework for exhaustive modelling of genetic interaction patterns using Petri nets.

A framework for exhaustive modelling of genetic interaction patterns using Petri nets.

Journal: Bioinformatics (Oxford, England)

Published: December 16, 2018

Recommendations for Improving the Quality of Rare Disease Registries.

Recommendations for Improving the Quality of Rare Disease Registries.

Journal: International journal of environmental research and public health

Published: June 28, 2018

Showing 1-12 of 19

Last Updated: 09/26/2026