Publications by authors named "Mariska Slofstra"

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Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.
Eleana Rraku, Tyler D Medina, Conny M A van Ravenswaaij-Arts, Mariska K Slofstra, Morris A Swertz

Hum Mutat· January 2026

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'dstidyverse': An Implementation of  Ecosystem.
Tim Cadman, Mariska Slofstra, Demetris Avraam, Eleanor Hyde, Niels Kikkert

F1000Res· November 2025

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Ambient air pollution and childhood obesity from infancy to late childhood: An individual participant data meta-analysis of 10 European birth cohorts.
Sarah Warkentin, Serena Fossati, Sandra Marquez, Anne-Marie Nybo Andersen, Sandra Andrusaityte, Mariska Slofstra

Environ Int· June 2025

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MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Willem T K Maassen, Lennart F Johansson, Bart Charbon, Dennis Hendriksen, Sander van den Hoek, Mariska K Slofstra

NAR Genom Bioinform· June 2025

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MOLGENIS Armadillo: a lightweight server for federated analysis using DataSHIELD.
Tim Cadman, Mariska K Slofstra, Marije A van der Geest, Demetris Avraam, Tom R P Bishop

Bioinformatics· December 2024

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Metabolic Age Based on the BBMRI-NL H-NMR Metabolomics Repository as Biomarker of Age-related Disease.
Erik B van den Akker, Stella Trompet, Jurriaan J H Barkey Wolf, Marian Beekman, H Eka D Suchiman, Mariska Slofstra

Circ Genom Precis Med· October 2020

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Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Ivo F A C Fokkema, Kasper J van der Velde, Mariska K Slofstra, Claudia A L Ruivenkamp, Maartje J Vogel

Hum Mutat· December 2019

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MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians.
K Joeri van der Velde, Floris Imhann, Bart Charbon, Chao Pang, David van Enckevort, Mariska Slofstra

Bioinformatics· March 2019

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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, Ellen C Carbo, Mariska Slofstra

J Med Genet· August 2018

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