Computational Health Center
We develop novel computational tools powered by AI to accelerate discovery and translation. We apply cutting-edge computational methods to promote personalised health. Collaboratively, we develop predictive algorithms as well as mechanistic models to analyse molecular, imaging, and clinical data of human health and disease. We thus help to create innovative diagnostics and novel treatments for environmentally triggered diseases.
We develop novel computational tools powered by AI to accelerate discovery and translation. We apply cutting-edge computational methods to promote personalised health. Collaboratively, we develop predictive algorithms as well as mechanistic models to analyse molecular, imaging, and clinical data of human health and disease. We thus help to create innovative diagnostics and novel treatments for environmentally triggered diseases.
Publications
Lecture Notes in Computer Science In: (Computer Vision – ECCV 2024). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2025. 413-430 (Lect. Notes Comput. Sc. ; 15144)
Fast context-based low-light image enhancement via neural implicit representations.
Lecture Notes in Computer Science In: (Ethics and Fairness in Medical Imaging). 2025. 34-45 (Lect. Notes Comput. Sc. ; 15198 LNCS)
Fair and private CT contrast agent detection.
Lecture Notes in Computer Science In: (Deep Generative Models). 2025. 139-149 (Lect. Notes Comput. Sc. ; 15224 LNCS)
On differentially private 3D medical image synthesis with controllable latent diffusion models.
Lecture Notes in Computer Science In: (Simulation and Synthesis in Medical Imaging). 2025. 167-176 (Lect. Notes Comput. Sc. ; 15187 LNCS)
MedEdit: Counterfactual diffusion-based image editing on brain MRI.
Lecture Notes in Computer Science In: (Deep Generative Models). 2025. 87-97 (Lect. Notes Comput. Sc. ; 15224 LNCS)
Denoising diffusion models for 3D healthy brain tissue inpainting.
Lecture Notes in Computer Science In: (Simplifying Medical Ultrasound). 2025. 220-230 (Lect. Notes Comput. Sc. ; 15186 LNCS)
Diffusion models for unsupervised anomaly detection in fetal brain ultrasound.
Lecture Notes in Computer Science In: (Simplifying Medical Ultrasound). 2025. 78-87 (Lect. Notes Comput. Sc. ; 15186 LNCS)
Learning to match 2D keypoints across preoperative MR and intraoperative ultrasound.
2024 Scientific Article in Proceedings of the Royal Society of Edinburgh, Section A: Mathematics Proc. R. Soc. Edinburgh, Sect. A, DOI: 10.1017/prm.2024.97 (2024)
Lyapunov stability of non-isolated equilibria for strongly irreversible Allen-Cahn equations.
2024 Scientific Article in Nature machine intelligence Nat. Mach. Intell., DOI: 10.1038/s42256-024-00934-3 (2024)
Delineating the effective use of self-supervised learning in single-cell genomics.
2024 Scientific Article in PLoS Pathogens PLoS Pathog. 20:e1012786 (2024)
Systematic assessment of COVID-19 host genetics using whole genome sequencing data.
2024 Editorial in Lecture Notes in Computer Science Lect. Notes Comput. Sc. 15007 LNCS, v-ix (2024)
Preface.
Lecture Notes in Computer Science In: (Medical Image Computing and Computer Assisted Intervention – MICCAI 2024). 2024. 614-624 (Lect. Notes Comput. Sc. ; 15007 LNCS)
Self-supervised k-space regularization for motion-resolved abdominal MRI using neural implicit k-space representations.
In: (EPiC Series in Computing). 2024. 51-83 ( ; 104)
Computational and analytical approaches for DNA methylation pattern modeling.
2024 Scientific Article in Npj Mental Health Research Npj Ment. Health Res. 3:66 (2024)
Harnessing multimodal approaches for depression detection using large language models and facial expressions.
2024 Review in Nature Nature 633, 47-57 (2024)
Deciphering the impact of genomic variation on function.
2024 Scientific Article in Journal of Investigative Dermatology, The J. Invest. Dermatol., DOI: 10.1016/j.jid.2024.11.017 (2024)
Death associated protein kinase 1 dampens keratinocyte necroptosis and expression of inflammatory genes in lichen planus.
2024 Scientific Article in eLife eLife 13, DOI: 10.7554/eLife.96810 (2024)
Cytosolic S100A8/A9 promotes Ca2+ supply at LFA-1 adhesion clusters during neutrophil recruitment.
2024 Scientific Article in Briefings in Bioinformatics Brief. Bioinform. 26:bbae657 (2024)
Synthetic plasma pool cohort correction for affinity-based proteomics datasets allows multiple study comparison.
2024 Scientific Article in Cardiovascular Research Cardiovasc. Res., 13 (2024)
Meis transcription factors regulate cardiac conduction system development and adult function.
2024 Nature Neuroscience Nat. Neurosci., DOI: 10.1038/s41593-024-01858-2 (2024)
Author Correction: Opportunities and challenges of single-cell and spatially resolved genomics methods for neuroscience discovery.
2024 Scientific Article in Communications Medicine Commun. Med. 4:265 (2024)
Interpretable multimodal machine learning (IMML) framework reveals pathological signatures of distal sensorimotor polyneuropathy.
2024 Scientific Article in BMC Psychiatry BMC Psychiatry 24:896 (2024)
Facing depression: Evaluating the efficacy of the EmpkinS-EKSpression reappraisal training augmented with facial expressions - protocol of a randomized controlled trial.
2024 Review in Cell Cell 187, 7045-7063 (2024)
How to build the virtual cell with artificial intelligence: Priorities and opportunities.
2024 Review in Nature Methods Nat. Methods, DOI: 10.1038/s41592-024-02532-y (2024)
Considerations for building and using integrated single-cell atlases.
2024 Nature Nature, DOI: 10.1038/s41586-024-08482-x (2024)
Publisher Correction: An integrated transcriptomic cell atlas of human neural organoids.
2024 European Journal of Human Genetics Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01756-y (2024)
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
2024 Editorial in Breathe Breathe 20:240056 (2024)
Artificial intelligence in tuberculosis: A new ally in disease control.
2024 Scientific Article in Nature biomedical engineering Nat. Bio. Eng., DOI: 10.1038/s41551-024-01273-9 (2024)
Heterogeneity-driven phenotypic plasticity and treatment response in branched-organoid models of pancreatic ductal adenocarcinoma.
2024 Letter to the Editor in Brain communications Brain Commun. 6:fcae383 (2024)
Are there two disjunct episignatures for KMT2B-related disease?
2024 Scientific Article in Nature Methods Nat. Methods, DOI: 10.1038/s41592-024-02555-5 (2024)
Multiplexing cortical brain organoids for the longitudinal dissection of developmental traits at single-cell resolution.
2024 Scientific Article in Cell Reports Medicine Cell Rep. Med. 5, 21:101846 (2024)
Modulation of TCR stimulation and pifithrin-α improves the genomic safety profile of CRISPR-engineered human T cells.
2024 Scientific Article in Cancer Research Cancer Res., DOI: 10.1158/0008-5472.CAN-24-0456 (2024)
HBV remodels PP2A complexes to rewire kinase signaling in hepatocellular carcinoma.
2024 Scientific Article in Science immunology Sci. Immunol. 9:eadl1467 (2024)
A helminth enzyme subverts macrophage-mediated immunity by epigenetic targeting of prostaglandin synthesis.
2024 Scientific Article in Communications Biology Comm. Biol. 7:1631 (2024)
Novel loci and biomedical consequences of iron homoeostasis variation.
Lecture Notes in Computer Science In: (Medical Image Computing and Computer Assisted Intervention – MICCAI 2024). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2024. 693-702 (Lect. Notes Comput. Sc. ; 15003)
Neural cellular automata for lightweight, robust and explainable classification of white blood cell images.
2024 Scientific Article in IEEE Access IEEE Access 12, 179879-179890 (2024)
The impact of random models on standardized clustering similarity.
Lecture Notes in Computer Science In: (Medical Image Computing and Computer Assisted Intervention – MICCAI 2024). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2024. 492-501 (Lect. Notes Comput. Sc. ; 15010)
Interpretable representation learning of cardiac MRI via attribute regularization.
Lecture Notes in Computer Science In: (Medical Image Computing and Computer Assisted Intervention – MICCAI 2024). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2024. 562-571 (Lect. Notes Comput. Sc. ; 15007)
Physics-informed deep learning for motion-corrected reconstruction of quantitative brain MRI.
Lecture Notes in Computer Science In: (27th International Conference on Medical Image Computing and Computer-Assisted Intervention, MICCAI 2024, 06-10 October 2024, Marrakesh, Morocco). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2024. 211-220 (Lect. Notes Comput. Sc. ; 15011)
Diffusion models with implicit guidance for medical anomaly detection.
2024 Review in Nature Neuroscience Nat. Neurosci. 27, 2292-2309 (2024)
Opportunities and challenges of single-cell and spatially resolved genomics methods for neuroscience discovery.
2024 Scientific Article in JAMA Pediatrics JAMA Pediatr.:e245059 (2024)
Clinical actionability of genetic findings in cerebral palsy: A systematic review and meta-analysis.
2024 Scientific Article in Hepatology communications Hepat. Commun. 8:e0598 (2024)
Missense variants in the TRPMr7 α-kinase domain are associated with recurrent pediatric acute liver failure.
2024 Scientific Article in PLoS Genetics PLoS Genet. 20:e1011346 (2024)
Disentangling the consequences of type 2 diabetes on targeted metabolite profiles using causal inference and interaction QTL analyses.
2024 Scientific Article in Nature Methods Nat. Methods 21, 2260–2270 (2024)
Probe set selection for targeted spatial transcriptomics.
Lecture Notes in Computer Science In: (Medical Image Computing and Computer Assisted Intervention – MICCAI 2024). 2024. 510-520 (Lect. Notes Comput. Sc. ; 15009 LNCS)
Progressive growing of patch size: Resource-efficient curriculum learning for dense prediction tasks.
2024 Scientific Article in Scientific Reports Sci. Rep. 14:28986 (2024)
RLS-associated MEIS transcription factors control distinct processes in human neural stem cells.
2024 Scientific Article in Diabetes/Metabolism Research and Reviews Diabetes Metab. Res. Rev. 40:e70009 (2024)
Prediction model for polyneuropathy in recent-onset diabetes based on serum neurofilament light chain, fibroblast growth factor-19 and standard anthropometric and clinical variables.
2024 Scientific Article in International Journal of Molecular Sciences Int. J. Mol. Sci. 25:12318 (2024)
Differential dynamics and roles of FKBP51 isoforms and their implications for targeted therapies.
2024 Letter to the Editor in Movement Disorders Mov. Disord. 39, 2124-2125 (2024)
Reply to: "Clinical and molecular profiling in GNAO1 permits phenotype-genotype correlation".
2024 Scientific Article in European Journal of Human Genetics Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01745-1 (2024)
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: A case report.
2024 Letter to the Editor in Nature Genetics Nat. Genet., DOI: 10.1038/s41588-024-02012-1 (2024)
Toward GDPR compliance with the Helmholtz Munich genotype imputation server.
2024 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 111, 2735-2755 (2024)
Primary cartilage transcriptional signatures reflect cell-type-specific molecular pathways underpinning osteoarthritis.
2024 Scientific Article in Nature Nature 627, 347-357 (2024)
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.
2024 Scientific Article in JIMD Reports JIMD Rep. 65, 417-425 (2024)
Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.
2024 Scientific Article in Nature Nature 635, 690-698 (2024)
An integrated transcriptomic cell atlas of human neural organoids.
2024 Scientific Article in Movement Disorders Mov. Disord., DOI: 10.1002/mds.30066 (2024)
Genome aggregation database version 4-allele frequency changes and impact on variant interpretation in dystonia.
2024 Scientific Article in European Journal of Health Psychology Eur. J. Health Psychol. 31, 189-200 (2024)
The Short Stress State Questionnaire in German (SSSQ-G).
2024 Scientific Article in The journal of allergy and clinical immunology J. Allergy Clin. Immunol., DOI: 10.1016/j.jaci.2024.10.027 (2024)
IL-9 sensitizes human Th2 cells to pro-inflammatory IL-18 signals in atopic dermatitis.
2024 Scientific Article in Journal of Experimental Medicine J. Exp. Med. 221:e20240546 (2024)
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.
2024 Scientific Article in IEEE Access IEEE Access, DOI: 10.1109/ACCESS.2024.3487013 (2024)
Systematic comparison of ECG delineation algorithm performance on smartwatch data.
IFAC-PapersOnLine In: (10th IFAC Conference on Foundations of Systems Biology in Engineering, FOSBE 2024, 8-11 September 2024, Corfu Island). Radarweg 29, 1043 Nx Amsterdam, Netherlands: Elsevier, 2024. 25-30 (IFAC PapersOnline ; 58)
Non-negative universal differential equations with applications in systems biology.
2024 Scientific Article in iScience iScience 27:111242 (2024)
Mathematical multi-compartment modeling of chronic lymphocytic leukemia cell kinetics under ibrutinib.
2024 Scientific Article in Next Research Next Res. 1:100041 (2024)
Structural insights into conformational stability of both wild-type and mutant Insulin Receptor Gene.
2024 Scientific Reports Sci. Rep. 14:27692 (2024)
Author Correction: Whole-body metabolic modelling reveals microbiome and genomic interactions on reduced urine formate levels in Alzheimer's disease.
Lecture Notes in Computer Science In: (Computer Vision and Pattern Recognition). 2024. 520-530 (Lect. Notes Comput. Sc. ; 15012 LNCS)
DinoBloom: A foundation model for generalizable cell embeddings in hematology.
2024 Scientific Article in PLoS ONE PLoS ONE 19:e0312268 (2024)
Neural network and layer-wise relevance propagation reveal how ice hockey protective equipment restricts players' motion.
2024 Editorial in Lecture Notes in Computer Science Lect. Notes Comput. Sc. 15012 LNCS, vii-ix (2024)
Preface.
2024 Scientific Article in Bioinformatics Bioinformatics 40:btae609 (2024)
Cluster-efficient pangenome graph construction with nf-core/pangenome.
2024 Scientific Article in Journal of Visualized Experiments J. Vis. Exp., DOI: 10.3791/66659:211 (2024)
Application of unsupervised multi-omic factor analysis to uncover patterns of variation and molecular processes linked to cardiovascular disease.
2024 Scientific Article in Biological Psychiatry Biol. Psychiatry, DOI: 10.1016/j.biopsych.2024.10.004 (2024)
Multi-omics analysis of the molecular response to glucocorticoids - insights into shared genetic risk from psychiatric to medical disorders.
2024 Scientific Article in Clinical Genetics Clin. Genet., DOI: 10.1111/cge.14622 (2024)
Consolidating the role of mutated ATP2B2 in neurodevelopmental and cerebellar pathologies.
2024 Scientific Article in Genome Biology Genome Biol. 25:286 (2024)
CaClust: Linking genotype to transcriptional heterogeneity of follicular lymphoma using BCR and exomic variants.
2024 Scientific Article in Cell Research Cell Res., DOI: 10.1038/s41422-024-01045-9 (2024)
A cross-species foundation model for single cells.
2024 Scientific Article in npj Genomic Medicine npj Genom. Med. 9:49 (2024)
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
2024 Editorial in Lecture Notes in Computer Science Lect. Notes Comput. Sc. 15004 LNCS, vii-ix (2024)
Preface.
2024 Scientific Article in Genome Biology Genome Biol. 25:275 (2024)
Scalable identification of lineage-specific gene regulatory networks from metacells with NetID.
2024 Scientific Article in iScience iScience 27:111025 (2024)
Federated difference-in-differences with multiple time periods in DataSHIELD.
2024 Scientific Article in Circulation: Cardiovascular interventions Circ. Cardiovasc. Intervent.:e013964 (2024)
Virtual reality for preprocedure planning of covered stent correction of superior sinus venosus atrial septal defects.
2024 Letter to the Editor in Acta Neurologica Belgica Acta Neurol. Belg., DOI: 10.1007/s13760-024-02666-y (2024)
Paradoxical caffeine-responsive paroxysmal nonkinesigenic dyskinesias.
2024 Scientific Article in Genome Biology Genome Biol. 25:277 (2024)
Mapping lineage-traced cells across time points with moslin.
2024 Scientific Article in PLoS ONE PLoS ONE 19:e0312148 (2024)
Benchmarking methods for computing local sensitivities in ordinary differential equation models at dynamic and steady states.
2024 Scientific Article in Alzheimer's & Dementia Alzheimers Dement., DOI: 10.1002/alz.14249 (2024)
Comparative brain metabolomics reveals shared and distinct metabolic alterations in Alzheimer's disease and progressive supranuclear palsy.
2024 Scientific Article in Nature Communications Nat. Commun. 15:9343 (2024)
Integrative spatial and genomic analysis of tumor heterogeneity with Tumoroscope.
2024 Scientific Article in Viruses Viruses 16:1556 (2024)
Understanding the omicron variant impact in healthcare workers: Insights from the prospective COVID-19 post-immunization serological cohort in Munich (KoCo-Impf) on risk factors for breakthrough and reinfections.
2024 Scientific Article in Genome Research Genome Res. 34, 1276-1285 (2024)
Genetics-driven risk predictions leveraging the Mendelian randomization framework.
2024 Scientific Article in European Journal of Human Genetics Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01699-4 (2024)
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
2024 Scientific Article in Nucleic Acids Research Nucleic Acids Res., DOI: 10.1093/nar/gkae974 (2024)
The UCSC Genome Browser database: 2025 update.
2024 Scientific Article in Nature Genetics Nat. Genet., DOI: 10.1038/s41588-024-01951-z (2024)
Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries.
2024 Scientific Article in Genetic Epidemiology Genet. Epidemiol., DOI: 10.1002/gepi.22593 (2024)
PSAP-Genomic-Regions: A method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare Disease diagnosis.
2024 Scientific Article in Pain Pain, DOI: 10.1097/j.pain.0000000000003463 (2024)
Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort.
2024 Scientific Article in JMIR Formative Research JMIR Form. Res. 8:e57185 (2024)
Complementary app-based yoga home exercise therapy for patients with axial spondyloarthritis: Usability study.
2024 Scientific Article in Brain, Behavior and Immunity Brain Behav. Immun. 123, 353-369 (2024)
Dissecting depression symptoms: Multi-omics clustering uncovers immune-related subgroups and cell-type specific dysregulation.
2024 Scientific Article in Nature Genetics Nat. Genet., DOI: 10.1038/s41588-024-01919-z (2024)
Integration of variant annotations using deep set networks boosts rare variant association testing.
2024 Scientific Article in Science Science 385:eadd8947 (2024)
Germline mutations in a G protein identify signaling cross-talk in T cells.
2024 Review in Movement Disorders Mov. Disord., DOI: 10.1002/mds.30037 (2024)
Emerging molecular-genetic families in dystonia: Endosome-autophagosome-lysosome and integrated stress response pathways.
2024 Review in Nature Reviews - Genetics Nat. Rev. Genet., DOI: 10.1038/s41576-024-00774-2 (2024)
From computational models of the splicing code to regulatory mechanisms and therapeutic implications.
Lecture Notes in Computer Science In: (Biomedical Image Registration). 2024. 265-279 (Lect. Notes Comput. Sc. ; 15249 LNCS)
General vision encoder features as guidance in medical image registration.
Lecture Notes in Computer Science In: (Biomedical Image Registration). 2024. 295-307 (Lect. Notes Comput. Sc. ; 15249 LNCS)
A self-supervised image registration approach for measuring local response patterns in metastatic ovarian cancer.
2024 Scientific Article in Movement Disorders Mov. Disord. 39, 2110-2116 (2024)
Genetic risk factors in isolated dystonia escape genome-wide association studies.
2024 Scientific Article in Brain: A Journal of Neurology Brain, DOI: 10.1093/brain/awae349 (2024)
Novel risk loci in LGI1-antibody encephalitis: Genome-wide association study discovery and validation cohorts.
ACM International Conference Proceeding Series In: (13th Nordic Conference on Human-Computer Interaction, NordiCHI 2024, 13-16 October 2024, Uppsala). 1601 Broadway, 10th Floor, New York, Ny, United States: Assoc Computing Machinery, 2024. DOI: 10.1145/3677045.3685447 (ACM International Conference Proceeding Series)
Motivational factors for experienced users of mobile health applications in heart failure management.
Lecture Notes in Computer Science In: (Medical Image Computing and Computer Assisted Intervention – MICCAI 2024). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2024. 713-723 (Lect. Notes Comput. Sc. ; 15005 LNCS)
Towards learning contrast kinetics with multi-condition latent diffusion models.
2024 Scientific Article in Nature medicine Nat. Med., DOI: 10.1038/s41591-024-03214-0 (2024)
An open-source framework for end-to-end analysis of electronic health record data.
2024 Scientific Article in Nature Communications Nat. Commun. 15:7909 (2024)
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Lecture Notes in Computer Science In: (Medical Image Computing and Computer Assisted Intervention – MICCAI 2024). 2024. 575-585 (Lect. Notes Comput. Sc. ; 15002 LNCS)
Data-driven tissue- and subject-specific elastic regularization for medical image registration.
2024 Editorial in Lecture Notes in Computer Science Lect. Notes Comput. Sc. 15002 LNCS, vii-ix (2024)
Preface.
In: (12th International Conference on Learning Representations, ICLR 2024, 07-11 May 2024, Hybrid, Vienna). 2024.
ODEFormer: Symbolic regression of dynamical systems with transformers.
2024 Editorial in Gastroenterology Gastroenterology, DOI: 10.1053/j.gastro.2024.10.011 (2024)
Unveiling a critical role of IL-7 in Celiac Disease - Insights from a novel human autoimmune organoid model.
2024 Review in Cell Genomics Cell Genom. 4, 3:100676 (2024)
Unlocking the genetic influence on milk variation and its potential implication for infant health.
2024 Letter to the Editor in Movement Disorders Mov. Disord., DOI: 10.1002/mds.30029 (2024)
Paroxysmal non-kinesigenic dyskinesias associated with biallelic POLG variants: A case report.
2024 Scientific Article in Journal of Clinical Investigation J. Clin. Invest.:e175310 (2024)
Epigenetic regulation of cell state by H2AFY governs immunogenicity in high-risk neuroblastoma.
2024 Scientific Article in Tremor and other hyperkinetic movements Tremor Other Hyperkinet. Mov. 14:48 (2024)
Tremor-dominant movement disorder in ANKRD11- associated KBG syndrome.
2024 Scientific Article in Nature Neuroscience Nat. Neurosci. 27, 2021-2032 (2024)
Single-nucleus transcriptomic profiling of human orbitofrontal cortex reveals convergent effects of aging and psychiatric disease.
2024 Scientific Article in Nature Communications Nat. Commun. 15:7619 (2024)
Acetyl-DL-leucine in two individuals with REM sleep behavior disorder improves symptoms, reverses loss of striatal dopamine-transporter binding and stabilizes pathological metabolic brain pattern-case reports.
2024 Scientific Article in Science Advances Sci. Adv. 10:eadl4374 (2024)
Loss of atrial natriuretic peptide signaling causes insulin resistance, mitochondrial dysfunction, and low endurance capacity.
2024 Scientific Article in Annals of Neurology Ann. Neurol., DOI: 10.1002/ana.27077 (2024)
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
2024 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 121:e2407765121 (2024)
Lysis of human erythrocytes due to Piezo1-dependent cytosolic calcium overload as a mechanism of circulatory removal.
2024 Scientific Article in Science Science 386:eadj8172 (2024)
The landscape of RNA-binding proteins in mammalian spermatogenesis.
2024 Letter to the Editor in Movement Disorders Mov. Disord., DOI: 10.1002/mds.30008 (2024)
Potassium channel subunit Kir4.1 mutated in paroxysmal kinesigenic dyskinesia: Screening of an Italian cohort.
2024 Scientific Article in Nature human behaviour Nat. Hum. Behav., DOI: 10.1038/s41562-024-01963-z (2024)
The genetic landscape of neuro-related proteins in human plasma.
2024 Scientific Article in Computers in Human Behavior Reports Comput. Hum. Behav. Rep. 16:100497 (2024)
Validation of the Virtual Reality Stroop Room: Effects of inhibiting interfering information under time-pressure and task-switching demands.
2024 Scientific Article in IEEE Open Journal of Engineering in Medicine and Biology IEEE Open J. Eng. Med. Biol. 5, 680-699 (2024)
A review and tutorial on machine learning-enabled radar-based biomedical monitoring.
2024 Review in Annual Review of Genomics and Human Genetics Annu. Rev. Genomics Hum. Genet. 25, 239-257 (2024)
The genetics and functional genomics of osteoarthritis.
2024 Scientific Article in Forecasting Forecasting 6, 718-747 (2024)
Data-centric benchmarking of neural network architectures for the univariate time series forecasting task.
2024 Scientific Article in Mathematical Methods in the Applied Sciences Math. Meth. Appl. Sci., DOI: 10.1002/mma.10507 (2024)
On the well-posedness of some model arising in the mathematical biology.
2024 Scientific Article in Diabetologia Diabetologia 67, 2804-2818 (2024)
Role of human plasma metabolites in prediabetes and type 2 diabetes from the IMI-DIRECT study.
2024 Scientific Article in IEEE Open Journal of Engineering in Medicine and Biology IEEE Open J. Eng. Med. Biol. 5, 725-734 (2024)
EmRad: Ubiquitous vital sign sensing using compact continuous-wave radars.
2024 Review in Nature Methods Nat. Methods 21, 1597-1602 (2024)
Small data methods in omics: The power of one.
2024 Scientific Article in Nature Communications Nat. Commun. 15:6611 (2024)
scTab: Scaling cross-tissue single-cell annotation models.
2024 Scientific Article in Cell Genomics Cell Genom. 4:100634 (2024)
Predicting T cell receptor functionality against mutant epitopes.
Methods in Molecular Biology In: Chromatin Immunoprecipitation. 2024. 63-89 (Methods Mol. Biol. ; 2846)
Differential analysis of protein-DNA binding using ChIP-seq data.
2024 Scientific Article in npj Parkinson's Disease npj Parkinsons Dis. 10:158 (2024)
Risk willingness in multiple system atrophy and Parkinson's disease understanding patient preferences.
2024 Review in Nature Methods Nat. Methods 21, 1430-1443 (2024)
Transformers in single-cell omics: A review and new perspectives.
2024 Scientific Article in Nature Communications Nat. Commun. 15:7611 (2024)
Suppression of ferroptosis by vitamin A or radical-trapping antioxidants is essential for neuronal development.
2024 Editorial in Movement Disorders Mov. Disord., DOI: 10.1002/mds.29964 (2024)
Proteomic profiling in dystonia: The next frontier for pathophysiology research and biomarker exploration.
2024 Scientific Article in IEEE Access IEEE Access 12, 130583-130601 (2024)
Assessing the performance of remaining time prediction methods for business processes.
2024 Scientific Article in Nature Immunology Nat. Immunol. 25, 1593-1606 (2024)
Age-related epithelial defects limit thymic function and regeneration.
2024 Scientific Article in NMR in Biomedicine NMR Biomed., DOI: 10.1002/nbm.5216:e5216 (2024)
Simultaneous whole-liver water T1 and T2 mapping withisotropic resolution during free-breathing.
2024 Scientific Article in Journal of neuromuscular diseases J. Neuromuscul. Dis. 11, 1131-1137 (2024)
HNRNPA1 de novo variant associated with early childhood onset, rapidly progressive generalized myopathy.
2024 Scientific Article in Metabolomics Metabolomics 20:105 (2024)
Stool and blood metabolomics in the metabolic syndrome: A cross-sectional study.
Lecture Notes in Computer Science In: (Business Process Management). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2024. 238-255 (Lect. Notes Comput. Sc. ; 14940 LNCS)
Efficient training of recurrent neural networks for remaining time prediction in predictive process monitoring.
In: (41st International Conference on Machine Learning, 21-27 July 2024, Vienna). 2024. 39529-39555 ( ; 235)
Position: Topological deep learning is the new frontier for relational learning.
In: (41st International Conference on Machine Learning, 21-27 July 2024, Vienna). 2024. 53113-53139 ( ; 235)
Expressivity and generalization: Fragment-biases for molecular GNNs.
In: (41st International Conference on Machine Learning, 21-27 July 2024, Vienna). 2024. 1865-1901 ( ; 235)
An amortized approach to non-linear mixed-effects modeling based on neural posterior estimation.
In: (37th Annual Conference on Learning Theory, 30 June-3 July 2024, Edmonton). 2024. 3823-3872 ( ; 247)
Fast, blind, and accurate: Tuning-free sparse regression with global linear convergence.
In: (Proceedings - International Symposium on Biomedical Imaging, 27-30 May 2024, Athen). 2024. DOI: 10.1109/ISBI56570.2024.10635886
A data-driven solution for the cold start problem in biomedical image classification.
In: (Proceedings - International Symposium on Biomedical Imaging, 27-30 May 2024, Athen). 2024. DOI: 10.1109/ISBI56570.2024.10635840
Differentially private graph neural networks for medical population graphs and the impact of the graph structure.
2024 Review in Strahlentherapie und Onkologie : Journal of Radiation Oncology, Biology, Physics Strahlenther. Onkol., DOI: 10.1007/s00066-024-02262-2 (2024)
Deep learning for autosegmentation for radiotherapy treatment planning: State-of-the-art and novel perspectives.
In: (Proceedings - International Symposium on Biomedical Imaging, 27-30 May 2024, Athen). 2024. DOI: 10.1109/ISBI56570.2024.10635695
Low-resource finetuning of foundation models beats state-of-the-art in histopathology.
Informatik aktuell In: (Bildverarbeitung für die Medizin 2024). Abraham-lincoln-str. 46, Wiesbaden, 65189, Germany: Springer Vieweg Verlag, 2024. 54-59 (Inf. aktuell)
Influence of prompting strategies on segment anything model (SAM) for short-axis cardiac MRI segmentation.
In: (Proceedings - International Symposium on Biomedical Imaging). 2024. DOI: 10.1109/ISBI56570.2024.10635799
Unifying local and global shape descriptors to grade soft-tissue sarcomas using graph convolutional networks.
2024 Scientific Article in Advanced Materials Interfaces Adv. Mater. Interfaces, DOI: 10.1002/admi.202400194 (2024)
Bioinspired hyaluronica acid-based hydrogel fuels bi-directional lung organoid maturation via PIEZO1 and ITGB1 mediated mechanosensation.
2024 Letter to the Editor in Gastroenterology Gastroenterology 167, 1048-1049 (2024)
Defining the role of immune microniches in intestinal effector regulatory T-cell functionality.
2024 Editorial in Clinical Parkinsonism and Related Disorders Clin. Parkinsonism Relat. Disord. 11:3 (2024)
Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report.
2024 Scientific Article in Genome Biology Genome Biol. 25:205 (2024)
MAMS: Matrix and analysis metadata standards to facilitate harmonization and reproducibility of single-cell data.
In: (12th International Conference on Learning Representations, ICLR 2024, 7-11 May 2024, Vienna). 2024. accepted
BEND: Benchmarking DNA language models on biologically meaningful tasks.
2024 Scientific Article in IEEE Transactions on Medical Imaging IEEE Trans. Med. Imaging, DOI: 10.1109/TMI.2024.3435015 (2024)
Weakly supervised object detection in chest X-rays with differentiable ROI proposal networks and soft ROI pooling.
Lecture Notes in Computer Science In: (Medical Image Understanding and Analysis). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2024. 366-381 (Lect. Notes Comput. Sc. ; 14860 LNCS)
EchoVisuAL: Efficient Segmentation of Echocardiograms Using Deep Active Learning.
Lecture Notes in Computer Science In: (Research in Computational Molecular Biology). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2024. 385-389 (Lect. Notes Comput. Sc. ; 14758 LNCS)
Disease risk predictions with differentiable mendelian randomization.
2024 Scientific Article in International Journal of Molecular Sciences Int. J. Mol. Sci. 25:7793 (2024)
An integrated transcriptomics and genomics approach detects an X/Autosome translocation in a female with duchenne muscular dystrophy.
2024 Scientific Article in Scientific Reports Sci. Rep. 14:17423 (2024)
Peripheral inflammation is associated with brain atrophy and cognitive decline linked to mild cognitive impairment and Alzheimer's disease.
2024 Scientific Article in Vaccines Vaccines 12:745 (2024)
Tailoring COVID-19 vaccination strategies in high-seroprevalence settings: Insights from Ethiopia.
2024 Scientific Article in Journal of Clinical Medicine J. Clin. Med. 13:4131 (2024)
Retro mode imaging for detection and quantification of Sub-RPE drusen and subretinal drusenoid deposits in age-related macular degeneration.
2024 Scientific Article in Journal of Clinical Medicine J. Clin. Med. 13:3890 (2024)
Machine learning prediction of treatment response to biological disease-modifying antirheumatic drugs in rheumatoid arthritis.
2024 Scientific Article in Briefings in Bioinformatics Brief. Bioinform. 25:bbae029 (2024)
SuperCUT, an unsupervised multimodal image registration with deep learning for biomedical microscopy.
2024 Scientific Article in Eye Eye, DOI: 10.1038/s41433-024-03264-1 (2024)
Evaluation of OCT biomarker changes in treatment-naive neovascular AMD using a deep semantic segmentation algorithm.
2024 Scientific Article in Osteoarthritis and Cartilage Osteoarthr. Cartil. 32, 1126-1133 (2024)
Epigenomic differences between osteoarthritis grades in primary cartilage.
2024 Scientific Article in Nature Computational Science Nat. Comput. Sci. 4, 367–378 (2024)
MISATO: Machine learning dataset of protein-ligand complexes for structure-based drug discovery.
2024 Nature Communications Nat. Commun. 15:6190 (2024)
Author Correction: IRE1α-XBP1s pathway promotes prostate cancer by activating c-MYC signaling.
2024 Scientific Article in Communications Biology Comm. Biol. 7:831 (2024)
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
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Biallelic loss of function variants in SENP7 cause immunodeficiency with neurologic and muscular phenotypes.
2024 Scientific Article in Nature Genetics Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
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2024 Scientific Article in Bioinformatics Bioinformatics 40, i558-i566 (2024)
Efficient parameter estimation for ODE models of cellular processes using semi-quantitative data.
2024 Scientific Article in Bioinformatics Bioinformatics 40, i548-i557 (2024)
GraphCompass: Spatial metrics for differential analyses of cell organization across conditions.
2024 Scientific Article in Genes Genes 15:806 (2024)
Leveraging integrated RNA sequencing to decipher adrenomedullin's protective mechanisms in experimental bronchopulmonary dysplasia.
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Pre- to post-contrast breast MRI synthesis for enhanced tumour segmentation.
2024 Scientific Article in Cell Reports Cell Rep. 43:114416 (2024)
The HuMet Repository: Watching human metabolism at work.
2024 Scientific Article in Science Signaling Sci. Signal. 17:eadi0934 (2024)
G protein-coupled receptor endocytosis generates spatiotemporal bias in β-arrestin signaling.
Proceedings of SPIE In: (17th International Workshop on Breast Imaging, IWBI 2024, 9-12 June 2024, Chicago, US). 1000 20th St, Po Box 10, Bellingham, Wa 98227-0010 Usa: Spie-int Soc Optical Engineering, 2024.:131740S (Proc. SPIE ; 13174)
Breast composition measurements from Full-Field Digital Mammograms using generative adversarial networks.
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Mitochondrial DNA-encoded defects.
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Expert-level detection of M-proteins in serum protein electrophoresis using machine learning.
2024 Scientific Article in Human Genetics and Genomics Advances HGG Advances 5:100318 (2024)
Identifying dysregulated regions in amyotrophic lateral sclerosis through chromatin accessibility outliers.
2024 Scientific Article in Communications Medicine Commun. Med. 4:94 (2024)
Complex patterns of multimorbidity associated with severe COVID-19 and long COVID.
2024 Scientific Article in Molecular Genetics and Metabolism Mol. Genet. Metab. 142:108511 (2024)
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
2024 Scientific Article in Journal of Applied and Computational Topology J. Appl. Comput. Topol., DOI: 10.1007/s41468-024-00182-9 (2024)
The magnitude vector of images.
2024 Scientific Article in Nature Nature 631, 645-653 (2024)
Plasmacytoid dendritic cells control homeostasis of megakaryopoiesis.
2024 Scientific Article in Genome Biology Genome Biol. 25:181 (2024)
Panpipes: A pipeline for multiomic single-cell and spatial transcriptomic data analysis.
2024 Scientific Article in Complex Variables and Elliptic Equations Complex Variables, DOI: 10.1080/17476933.2024.2372105 (2024)
On the solvability of some systems of integro-differential equations with and without a drift.
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Direct neuronal reprogramming of mouse astrocytes is associated with multiscale epigenome remodeling and requires Yy1.
2024 Scientific Article in Nature Nature 631, 867–875 (2024)
A liver immune rheostat regulates CD8 T cell immunity in chronic HBV infection.
2024 Scientific Article in Nature Communications Nat. Commun. 15:5745 (2024)
The reactive pyruvate metabolite dimethylglyoxal mediates neurological consequences of diabetes.
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Analysis of missingness scenarios for observational health data.
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Evaluation and mitigation of the limitations of large language models in clinical decision-making.
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2024 Letter to the Editor in Movement disorders clinical practice Mov. Disord. Clin. Pract., DOI: 10.1002/mdc3.14156 (2024)
Adult-onset parkinsonism as late manifestation of HIVEP2-associated developmental disorder.
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Distinct genetic liability profiles define clinically relevant patient strata across common diseases.
2024 Scientific Article in Nature Communications Nat. Commun. 15:5577 (2024)
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2024 Scientific Article in Physiological Measurement Physiol. Meas. 45:055009 (2024)
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Exploiting data diversity in multi-domain federated learning.
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Enhancing unsupervised outlier model selection: A study on ireos algorithms.
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Prediction of myocardial infarction using a combined generative adversarial network model and feature-enhanced loss function.
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Combinatorial microRNA activity is essential for the transition of pluripotent cells from proliferation into dormancy.
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Multi-omics in MECP2 duplication syndrome patients and carriers.
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Machine learning integrative approaches to advance computational immunology.
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CellRank 2: Unified fate mapping in multiview single-cell data.
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2024 Editorial in Sleep Sleep, DOI: 10.1093/sleep/zsae116 (2024)
GWAS Gateway - Transitioning Variants from Association to Causality in Complex Diseases [Commentary on Perturbation of the insomnia WDR90 GWAS locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, PIG-Q].
2024 Review in Cell Cell 187, 2343-2358 (2024)
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Advancing precision medicine: Algebraic topology and differential geometry in radiology and computational pathology.
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2024 Nature Genetics Nat. Genet. 56, 1032-1033 (2024)
Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
2024 Nature Nature 628:E6 (2024)
Publisher Correction: Decoding chromatin states by proteomic profiling of nucleosome readers.
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The first spatio-spectral Bayesian imaging of SN1006 in X-rays.
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Machine learning-based detection of acute psychosocial stress from body posture and movements.
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Polyploidisation pleiotropically buffers ageing in hepatocytes.
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New cases of maleylacetoacetate isomerase deficiency with detection by newborn screening and natural history over 32 years: Experience from a German newborn screening center.
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Extended graph assessment metrics for regression and weighted graphs.
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München, Technische Universität München, TUM School of Computation, Information and Technology, Diss., 2023, 152 S.
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2023 Meeting abstract in Blood Blood 142:2708 (2023)
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In: (AISec 2023 - Proceedings of the 16th ACM Workshop on Artificial Intelligence and Security, 30 November 2023, Copenhagen, Denmark). 1601 Broadway, 10th Floor, New York, Ny, United States: Assoc Computing Machinery, 2023. 43-53
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2023 Editorial in Nature medicine Nat. Med. 29, 1338-1339 (2023)
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Lecture Notes in Computer Science In: (Simulation and Synthesis in Medical Imaging). Gewerbestrasse 11, Cham, Ch-6330, Switzerland: Springer International Publishing Ag, 2023. 42-52 (Lect. Notes Comput. Sc. ; 14288)
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2023 Review in IEEE Transactions on Medical Imaging IEEE Trans. Med. Imaging, DOI: 10.1109/TMI.2023.3323215 (2023)
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Population-level integration of single-cell datasets enables multi-scale analysis across samples.
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2023 Scientific Article in BMC Medical Informatics and Decision Making BMC Med. Inform. Decis. Mak. 23:239 (2023)
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2023 Scientific Article in Bioinformatics Bioinformatics 39:btad674 (2023)
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Robust and Generalisable Segmentation of Subtle Epilepsy-Causing Lesions: A Graph Convolutional Approach.
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Automated quality controlled analysis of 2D phase contrast cardiovascular magnetic resonance imaging.
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Reversing the Abnormal: Pseudo-Healthy Generative Networks for Anomaly Detection.
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What Do AEs Learn? Challenging Common Assumptions in Unsupervised Anomaly Detection.
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Multispectral 3D Masked Autoencoders for Anomaly Detection in Non-Contrast Enhanced Breast MRI.
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2023 Scientific Article in Human genomics Hum. Genomics 17:55 (2023)
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2023 Scientific Article in Neuropediatrics Neuropediatrics, DOI: 10.1055/s-0043-1776013 (2023)
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Exploiting Segmentation Labels and Representation Learning to Forecast Therapy Response of PDAC Patients.
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2023 Review in The Lancet Digital Health Lancet Digit. Health 5, e840-e847 (2023)
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A Roadmap for a consensus human skin cell atlas and single-cell data standardization.
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Cell-type-specific regulation of APOE and CLU levels in human neurons by the Alzheimer's disease risk gene SORL1.
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MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.
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2023 Scientific Article in Genetics in Medicine Genet. Med. 25:100836 (2023)
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
2023 Letter to the Editor in Journal of the National Cancer Institute J. Natl. Cancer Inst. 115, 760-761 (2023)
Reply to Li and colleagues.
2023 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 111:105352 (2023)
Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders.
2023 Scientific Article in Heliyon Heliyon 9:e15393 (2023)
Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease.
2023 Scientific Article in Neurology Genetics Neurol. Genet. 9:e200063 (2023)
New-onset refractory status epilepticus due to a novel MT-TF variant: Time for acute genetic testing before treatment?
2023 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 110, 809-825 (2023)
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
2023 Scientific Article in Science Advances Sci. Adv. 9:eade0631 (2023)
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
2023 Scientific Article in Nature Communications Nat. Commun. 14:2709 (2023)
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.
2023 Scientific Article in Journal of Medical Genetics J. Med. Genet. 60, 999-1005 (2023)
ARF1-related disorder: Phenotypic and molecular spectrum.
2023 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 111:105437 (2023)
A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy.
2023 Scientific Article in Science Translational Medicine Sci. Transl. Med. 15:eabo3189 (2023)
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
2023 Scientific Article in Movement Disorders Mov. Disord. 38, 1410-1418 (2023)
Epigenetic association analyses and risk prediction of RLS.
2023 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 110, 963-978 (2023)
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
2023 Human genomics Hum. Genomics 17:79 (2023)
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
2023 Scientific Article in International Journal of Molecular Sciences Int. J. Mol. Sci. 24:11 (2023)
Evaluation of mitochondrial dysfunction and idebenone responsiveness in fibroblasts from Leber's hereditary optic neuropathy (LHON) subjects.
2023 Scientific Article in Molecular Genetics and Metabolism Mol. Genet. Metab. 140:107675 (2023)
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
2023 Meeting abstract in Autophagy Autophagy 19, 3234-3239 (2023)
A burning question from the first international BPAN symposium: Is restoration of autophagy a promising therapeutic strategy for BPAN?
2023 Review in Journal of Inherited Metabolic Disease J. Inherit. Metab. Dis. 46, 824-838 (2023)
Integrative omics approaches to advance rare disease diagnostics.
2023 Scientific Article in Movement Disorders Mov. Disord. 38, 1914-1924 (2023)
Dystonia linked to EIF4A2 haploinsufficiency: A disorder of protein translation dysfunction.
2023 Scientific Article in International Review of Neurobiology Int. Rev. Neurobiol. 169, 61-103 (2023)
Dystonia genes and their biological pathways.
2023 Scientific Article in Movement disorders clinical practice Mov. Disord. Clin. Pract. 10, 1159-1161 (2023)
Challenges in establishing the diagnosis of PRRT2-related dystonia: Recurrent pathogenic variants in a homopolymeric stretch.
2023 Letter to the Editor in Movement Disorders Mov. Disord. 38, 1119-1120 (2023)
Reply to: "Early onset nonprogressive generalized dystonia is caused by biallelic SHQ1 variants".
2023 Scientific Article in Frontiers in Endocrinology Front. Endocrin. 14:1137573 (2023)
Investigating the role of ASCC1 in the causation of bone fragility.
2023 Scientific Article in Journal of neuromuscular diseases J. Neuromuscul. Dis. 10, 835-846 (2023)
Closing the Gap - Detection of 5q-spinal muscular atrophy by short-read Next-generation sequencing and unexpected results in a diagnostic patient cohort.
2023 Scientific Article in Epigenetics Epigenetics 18:2211361 (2023)
Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis.
2023 Scientific Article in Arthritis & Rheumatology Arthritis Rheum. 75, 1781-1792 (2023)
Lowering of circulating sclerostin may increase risk of atherosclerosis and its risk factors: Evidence from a genome-wide association meta-analysis followed by Mendelian randomization.
2023 Scientific Article in Nature Genetics Nat. Genet. 55, 423-436 (2023)
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.
2023 Scientific Article in Nature Genetics Nat. Genet. 55, 410-422 (2023)
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.
2023 Scientific Article in Twin Research and Human Genetics Twin Res. Hum. Genet. 26, 10-20 (2023)
Longitudinal reading measures and genome imputation in the National Child Development Study: Prospects for future reading research.
2023 Scientific Article in Genetic Epidemiology Genet. Epidemiol. 47, 450-460 (2023)
Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes.
2023 Scientific Article in Osteoarthritis and Cartilage Osteoarthr. Cartil. 31, 1377-1387 (2023)
Lifetime risk and genetic predisposition to post-traumatic OA of the knee in the UK Biobank.
2023 Scientific Article in EBioMedicine EBioMedicine 95:104775 (2023)
Genome-wide association analysis of cystatin-C kidney function in continental Africa.
2023 Scientific Article in EBioMedicine EBioMedicine 95:104759 (2023)
The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: Findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses.
2023 Scientific Article in Genetics Genetics 225:iyad150 (2023)
Leveraging osteoclast genetic regulatory data to identify genes with a role in osteoarthritis.
2023 Scientific Article in Clinical Proteomics Clin. Proteom. 20:31 (2023)
Proteomic analysis of 92 circulating proteins and their effects in cardiometabolic diseases.
2023 Scientific Article in Human Genetics and Genomics Advances HGG Advances 4:100214 (2023)
Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction.
2023 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 110, 1304-1318 (2023)
Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis.
2023 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 120:e2207993120 (2023)
NOS inhibition reverses TLR2-induced chondrocyte dysfunction and attenuates age-related osteoarthritis.
2023 Scientific Article in Discovery immunology Discov. Immunol. 2:kyad009 (2023)
Comparative phenotype of circulating versus tissue immune cells in human lung and blood compartments during health and disease.
2023 Scientific Article in Journal of Mathematical Biology J. Math. Biol. 86:24 (2023)
Contact tracing & super-spreaders in the branching-process model.
2023 Scientific Article in PLoS Computational Biology PLoS Comput. Biol. 19:e1010783 (2023)
Efficient computation of adjoint sensitivities at steady-state in ODE models of biochemical reaction networks.
2023 Scientific Article in Brain: A Journal of Neurology Brain 146, 3258-3272 (2023)
Progression of clinical markers in prodromal Parkinson's disease and dementia with Lewy bodies: a multicentre study.
2023 Scientific Article in Brain: A Journal of Neurology Brain 146, 2730-2738 (2023)
Variants in ATP5F1B are associated with dominantly inherited dystonia.
2023 Scientific Article in Galaxies Galaxies 11:4 (2023)
Emission modeling in the EHT–ngEHT age.
2023 Scientific Article in NAR: Genomics and Bioinformatics NAR Gen. Bioinfo. 5:lqad010 (2023)