Academic publications and preprints from my work in computational biology and machine learning.
2025
Navigating the Sequence-Function Landscape: AI-Driven Discovery of Unseen and Synergistic Mutations in an Amine Transaminase
Weigmann KFG, Heijl S, Vroling B, Michels N, Menke MJ, Doerr M, et al.
ACS Catalysis, Volume 15 Issue 17
2023
Understanding structure-guided variant effect predictions using 3D convolutional neural networks
Ramakrishnan G, Baakman C, Heijl S, Vroling B, van Horck R, Hiraki J, et al.
Frontiers in Molecular Biosciences, 10, 1204157
Cited by: 7
2022
Helix engineering: Combining the power of 3DM with AI to disrupt protein engineering
Heijl S, Boot J, Bergh T, Vroling B, Joosten HJ, Brier B.
Conference Publication
2022
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk
Boonen RACM, Wiegant WW, Celosse N, Vroling B, Heijl S, et al.
Cancer Research, 82(4), 615-631
Cited by: 40
2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Dorling L, Carvalho S, Allen J, Parsons MT, ..., Heijl S, et al.
Genome Medicine, 14(1), 51
Cited by: 25
2021
White paper: the helix pathogenicity prediction platform
Vroling B, Heijl S.
arXiv preprint arXiv:2104.01033
Cited by: 7
2020
Mind the gap: preventing circularity in missense variant prediction
Heijl S, Vroling B, van den Bergh T, Joosten HJ.
bioRxiv, 2020.05.06.080424
Cited by: 4
2016
Inherited arrhythmia syndromes, how to identify pathogenic mutations?
Vroling B, van den Bergh T, Alders M, Heijl S, Tanck M, Deprez RLD, et al.
Conference Publication