Concepedia

Mariska Slofstra

MS

Statistics

Publications

4

Citations

440

H-Index

4

Active since

2018

Affiliations

University Medical Center Groningen(Current)

University Medical Center Utrecht

University of Groningen

University College London

Amsterdam UMC Location University of Amsterdam

Mariska Slofstra is an author at University Medical Center Groningen specializing in life sciences, genomics, and pathogenicity classification.

ORCID

Publications per year

2018–2020

4

Publications

4

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

Marielle E van Gijn, Isabella Ceccherini, Yael Shinar et al. · Journal of Medical Genetics · 2018 · 167 citations · Full text

, , +16

MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians

K. Joeri van der Velde, Floris Imhann, Bart Charbon et al. · Bioinformatics · 2018 · 120 citations · Full text

, , +11

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

Erik B. van den Akker, Stella Trompet, Jurriaan Barkey Wolf et al. · Circulation Genomic and Precision Medicine · 2020 · 106 citations · Full text

, , +17

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Ivo F.A.C. Fokkema, Kasper Joeri van der Velde, Mariska Slofstra et al. · Human Mutation · 2019 · 47 citations · Full text

, , +17

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