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.
Upcoming Computational Health Seminars
Publications
2025 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 112, 394-413 (2025)
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
2025 Review in Human Molecular Genetics Hum. Mol. Genet. 34, 469-480 (2025)
Insights into the molecular underpinning of type 2 diabetes complications.
2025 Scientific Article in Communications Medicine Commun. Med. 5:11 (2025)
Consuming a modified Mediterranean ketogenic diet reverses the peripheral lipid signature of Alzheimer's disease in humans.
2025 Scientific Article in Nature Communications Nat. Commun. 16:505 (2025)
Predicting cell morphological responses to perturbations using generative modeling.
2025 Scientific Article in Nature Nature, DOI: 10.1038/s41586-024-08451-4 (2025)
Precursors of exhausted T cells are preemptively formed in acute infection.
2025 Scientific Article in Scientific Reports Sci. Rep. 15:1263 (2025)
Effects of time-of-day on the noradrenaline, adrenaline, cortisol and blood lipidome response to an ice bath.
2025 Letter to the Editor in Hepatology Hepatology 81, E106-E107 (2025)
Response to "the race against time in genetic testing for PALF".
2025 Scientific Article in Alzheimer's & Dementia Alzheimers Dement. 20, 1:e089802 (2025)
Peripheral metabolism informs on future cognitive decline and development of Alzheimer’s disease in population at risk.
2025 Scientific Article in Translational Psychiatry Transl. Psychiatry 15:65 (2025)
Acylcarnitines metabolism in depression: Association with diagnostic status, depression severity and symptom profile in the NESDA cohort.
2025 Scientific Article in Nature Communications Nat. Commun. 16:1910 (2025)
Individual bioenergetic capacity as a potential source of resilience to Alzheimer's disease.
2025 Scientific Article in Cardiovascular Diabetology Cardiovasc. Diabetol. 24:19 (2025)
Longitudinal association between DNA methylation and type 2 diabetes: Findings from the KORA F4/FF4 study.
2025 Scientific Article in Brain, Behavior and Immunity Brain Behav. Immun. 123, 353-369 (2025)
Dissecting depression symptoms: Multi-omics clustering uncovers immune-related subgroups and cell-type specific dysregulation.
2025 JIMD Reports JIMD Rep. 66:e70002 (2025)
Correction to “Expanding the genetic and clinicalspectrum of SLC25A42 associated disorders and testing ofpantothenic acid to improve CoA level in vitro”.
2025 Scientific Article in Blood Blood, DOI: 10.1182/blood.2023022197 (2025)
Dissection of single-cell landscapes for the development of chimeric antigen receptor T cells in Hodgkin lymphoma.
2025 Review in Annual Review of Psychology Annu. Rev. Psychol. 76, 275-302 (2025)
Unifying principles of generalization: Past, present, and future.
2025 Scientific Article in Kidney international reports Kidney Int. Rep., DOI: 10.1016/j.ekir.2024.12.006 (2025)
Trio exome sequencing in VACTERL association.
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 Research Square Research Square, DOI: 10.21203/rs.3.rs-5046381/v1 (2024)
Topographic atlas of cell states identifies regional gene expression in the adult human lung.
2024 Review in The Journal of Open Source Software JOSS 9:4371 (2024)
anndata: Access and store annotated data matrices.
In: (Proceedings - 2024 IEEE International Conference on Big Data, BigData 2024). 2024. 7998-8004
Data infrastructure for integrating clinical data in the large-scale international ORCHESTRA cohort: From data import to federated analysis.
2024Vortrag: ICLR 2024 Workshops (2024)
Machine learning for genomics explorations.
2024 Meeting abstract in Neuroscience Applied Neurosci. App. 3, 1:104036 (2024)
Molecular mechanisms underlying the onset of metabolic deficits in sporadic Parkinson’s disease.
2024 Scientific Article in Advances in Mathematical Sciences and Applications Adv. Math. Sci. Appl. 33, 419-457 (2024)
Containment policies, behaviour and dynamics of the pandemic.
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:RP96810 (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., DOI: 10.1093/cvr/cvae258 (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 Review 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 Review in Biolinguistics Biolinguistics 18:e15915 (2024)
Metatheoretical linguistics: A philosopher's guide.
2024 Scientific Article in Cell Reports Medicine Cell Rep. Med. 5:101846 (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 PLoS Computational Biology PLoS Comput. Biol. 20, 30:e1012568 (2024)
An inductive bias for slowly changing features in human reinforcement learning.
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 Scientific Article 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 Meeting abstract in Experimental Hematology Exp. Hematol. 137:104561 (2024)
A single-cell proteomics by mass spectrometry based map of the human CD34+hematopoie tic stem and progenitor cell compartment.
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. 155:23 (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 Editorial 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 Scientific Article 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. 33, 239-247 (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. 56, 2333–2344 (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 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 The Journal of Open Source Software JOSS, DOI: 10.21105/joss.06593 (2024)
Re-envisioning numerical information field theory (NIFTy.re): A library for gaussian processes and variational inference.
2024 Editorial in Cell Genomics Cell Genom. 4:100676 (2024)
Unlocking the genetic influence on milk variation and its potential implication for infant health.
2024 Scientific Article 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 Scientific Article 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. 8, 2222-2234 (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 Behavior research methods Behav. Res. Methods, DOI: 10.3758/s13428-024-02455-8 (2024)
A tutorial on open-source large language models for behavioral science.
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.
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Differential analysis of protein-DNA binding using ChIP-seq data.
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In: (41st International Conference on Machine Learning, 21-27 July 2024, Vienna). 2024. 39529-39555 ( ; 235)
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CogBench: A large language model walks into a psychology lab.
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Human-like category learning by injecting ecological priors from large language models into neural networks.
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In-context learning agents are asymmetric belief updaters.
In: (41st International Conference on Machine Learning, 21-27 July 2024, Vienna). 2024. 53113-53139 ( ; 235)
Expressivity and generalization: Fragment-biases for molecular GNNs.
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An amortized approach to non-linear mixed-effects modeling based on neural posterior estimation.
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Fast, blind, and accurate: Tuning-free sparse regression with global linear convergence.
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In: (Proceedings - International Symposium on Biomedical Imaging, 27-30 May 2024, Athen). 345 E 47th St, New York, Ny 10017 Usa: Ieee, 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)
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In: (Proceedings - International Symposium on Biomedical Imaging). 345 E 47th St, New York, Ny 10017 Usa: Ieee, 2024. DOI: 10.1109/ISBI56570.2024.10635799
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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.
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In: (12th International Conference on Learning Representations, ICLR 2024, 7-11 May 2024, Vienna). 2024. accepted
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EchoVisuAL: Efficient Segmentation of Echocardiograms Using Deep Active Learning.
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Disease risk predictions with differentiable mendelian randomization.
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An integrated transcriptomics and genomics approach detects an X/Autosome translocation in a female with duchenne muscular dystrophy.
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Peripheral inflammation is associated with brain atrophy and cognitive decline linked to mild cognitive impairment and Alzheimer's disease.
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Retro mode imaging for detection and quantification of Sub-RPE drusen and subretinal drusenoid deposits in age-related macular degeneration.
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Machine learning prediction of treatment response to biological disease-modifying antirheumatic drugs in rheumatoid arthritis.
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SuperCUT, an unsupervised multimodal image registration with deep learning for biomedical microscopy.
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Expert-level detection of M-proteins in serum protein electrophoresis using machine learning.
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Machine learning-based detection of acute psychosocial stress from body posture and movements.
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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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Predicting OCT-morphological anti-VEGF treatment response in patients with neovascular age-related degeneration using artificial intelligence.
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A genetic association study identifying cis protein quantitative trait loci in patients with MS.
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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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A comparative 'omics' approach for prediction of candidate Strongyloides stercoralis diagnostic coproantigens.
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2023 Review in Nature Biotechnology Nat. Biotechnol. 41, 604-606 (2023)
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Numerical and experimental analysis of drug inhalation in realistic human upper airway model.
2023 Scientific Article in Cell Cell 186, 3706-3725.e29 (2023)
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Spotlight on nerves: Portable multispectral optoacoustic imaging of peripheral nerve vascularization and morphology.
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Integrative modelling of reported case numbers and seroprevalence reveals time-dependent test efficiency and infectious contacts.
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Synthetic enforcement of STING signaling in cancer cells appropriates the immune microenvironment for checkpoint inhibitor therapy.
2023 Scientific Article in The journal of allergy and clinical immunology J. Allergy Clin. Immunol. 152, 408-419 (2023)
The neglected twin: Nummular eczema is a variant of atopic dermatitis with codominant TH2/TH17 immune response.
2023 Scientific Article in Development / Company of Biologists Development 150:12 (2023)
CIARA: A cluster-independent algorithm for identifying markers of rare cell types from single-cell sequencing data.
2023 Scientific Article in Cell Reports Cell Rep. 42:112525 (2023)
Systemic alterations in neutrophils and their precursors in early-stage chronic obstructive pulmonary disease.
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Identifying distinct clinical clusters in heart failure with mildly reduced ejection fraction.
2023 Scientific Article in Blood Blood 142, 1985-2001 (2023)
Oncogene-induced MALT1 protease activity drives post-transcriptional gene expression in malignant lymphomas.
2023 Scientific Article in Communications Biology Comm. Biol. 6:825 (2023)
The pharmacoepigenomic landscape of cancer cell lines reveals the epigenetic component of drug sensitivity.
2023 Scientific Article in Microbiome Microbiome 11:162 (2023)
Darier's disease exhibits a unique cutaneous microbial dysbiosis associated with inflammation and body malodour.
2023 Scientific Article in Molecular Psychiatry Mol. Psychiatry 28, 3874-3887 (2023)
Circulating metabolites modulated by diet are associated with depression.
2023 Review in Current Heart Failure Reports Curr. Heart Fail. Rep. 20, 333-349 (2023)
Discovering distinct phenotypical clusters in heart failure across the ejection fraction spectrum: A systematic review.
2023 Scientific Article in Viruses Viruses 15:25 (2023)
The prospective COVID-19 post-immunization serological cohort in Munich (KoCo-Impf): Risk factors and determinants of immune response in healthcare workers.
2023 Scientific Article in BMC Infectious Diseases BMC Infect. Dis. 23:466 (2023)
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2023 Scientific Article in Molecular Psychiatry Mol. Psychiatry 28, 2122-2135 (2023)
MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.
2023 Review in International Journal of Cardiovascular Imaging Int. J. Cardiovasc. Imaging 39, 1405-1419 (2023)
Extended reality for procedural planning and guidance in structural heart disease - a review of the state-of-the-art.
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Fast fetal head compounding from multi-view 3D ultrasound.
2023 Scientific Article in Cells Cells 12:15 (2023)
Loss-of-function variants in DRD1 in infantile parkinsonism-dystonia.
2023 Scientific Article in BMC Medical Genomics BMC Med. Genomics 16:73 (2023)
Implementation and evaluation of personal genetic testing as part of genomics analysis courses in German universities.
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)
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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)
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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.
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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.
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A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy.
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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)
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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)
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Dystonia linked to EIF4A2 haploinsufficiency: A disorder of protein translation dysfunction.
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2023 Letter to the Editor in Movement Disorders Mov. Disord. 38, 1119-1120 (2023)
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2023 Scientific Article in Frontiers in Endocrinology Front. Endocrin. 14:1137573 (2023)
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Closing the Gap - Detection of 5q-spinal muscular atrophy by short-read Next-generation sequencing and unexpected results in a diagnostic patient cohort.
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Dietary and supplemental intake of vitamins C and E is associated with altered DNA methylation in an epigenome-wide association study meta-analysis.
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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.
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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.
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Longitudinal reading measures and genome imputation in the National Child Development Study: Prospects for future reading research.
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2023 Scientific Article in Osteoarthritis and Cartilage Osteoarthr. Cartil. 31, 1377-1387 (2023)
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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.
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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)
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Efficient computation of adjoint sensitivities at steady-state in ODE models of biochemical reaction networks.
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Variants in ATP5F1B are associated with dominantly inherited dystonia.
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Emission modeling in the EHT–ngEHT age.
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TAOK1-related neurodevelopmental disorder: A new differential diagnosis for childhood-onset tremor?
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Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
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Metabolic signatures elucidate the effect of body mass index on type 2 diabetes.
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Machine learning reveals STAT motifs as predictors for GR-mediated gene repression.
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Predictive model of transcriptional elongation control identifies trans regulatory factors from chromatin signatures.
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Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis.
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Dermal real-time quaking-induced conversion is a sensitive marker to confirm isolated rapid eye movement sleep behavior disorder as an early α-synucleinopathy.
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Biologically informed deep learning to query gene programs in single-cell atlases.
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Associations of psychiatric disease and ageing with FKBP5 expression converge on superficial layer neurons of the neocortex.
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The adapted activity-by-contact model for enhancer-gene assignment and its application to single-cell data.
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Hyperreflective foci in intermediate age-related macular degeneration: Spatial abundance and impact on retinal morphology
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Single-copy locus proteomics of early- and late-firing DNA replication origins identifies a role of Ask1/DASH complex in replication timing control.
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Epigenome-wide association study reveals CpG sites associated with thyroid function and regulatory effects on KLF9.
2023 Scientific Article in Pharmaceuticals Pharmaceuticals 16:14 (2023)
Numerical and machine Learning analysis of the parameters affecting the regionally delivered nasal dose of nano- and micro-sized aerosolized drugs.
2023 Scientific Article in Pharmaceutics Pharmaceutics 15:19 (2023)
Identification of autophagy as a functional target suitable for the pharmacological treatment of mitochondrial membrane protein-associated neurodegeneration (MPAN) in vitro.
2023 Editorial in Gastroenterology Gastroenterology 164, 1337-1338 (2023)
Identification of the γδ IEL-secreted Paneth cell protective factor API5 as a promising therapeutic target for ATG16L1-associated Crohn's disease.
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A GWAS meta-analysis of alpha angle suggests cam-type morphology may be a specific feature of hip osteoarthritis in older adults.
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DeepSom: A CNN-based approach to somatic variant calling in WGS samples without a matched normal.
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A20 and the non-canonical NF-κB pathway are key regulators of neutrophil recruitment during fetal ontogeny.
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A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
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Transmicron: Accurate prediction of insertion probabilities improves detection of cancer driver genes from transposon mutagenesis screens.
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The UCSC genome browser database: 2023 update.
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Recessive NUP54 variants underlie early-onset dystonia with striatal lesions.
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The clinical and molecular landscape of congenital myasthenic syndromes in Austria: A nationwide study.
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Finite fractal dimensional global attractor for abstract differential equations with state-dependent delay.
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Epigenetic and pharmacological control of pigmentation via Bromodomain Protein 9 (BRD9).
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Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.
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The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
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WT1 and DNMT3A play essential roles in the growth of certain patient AML cells in mice.
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A proteome-scale map of the SARS-CoV-2-human contactome.
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Validation of disease-specific biomarkers for the early detection of bronchopulmonary dysplasia.
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A saturated map of common genetic variants associated with human height.
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Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy (Nature Cardiovascular Research, (2022), 1, 2, (157-173), 10.1038/s44161-022-00018-8).
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Preoperative prediction of lymph node metastasis in colorectal cancer with deep learning.
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Taxonomy of Benchmarks in Graph Representation Learning.
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On the Surprising Behaviour of \textttnode2vec.
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CFD modeling of airflow in a realistic model of a mouse left-lobe respiratory airways.
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Assessment of prediction uncertainty quantification methods in systems biology.
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Abstract: A database and neural network for highly accurate classification of single bone marrow cells.
2022 Meeting abstract in Journal for ImmunoTherapy of Cancer J. Immunother. Cancer 10, A31-A31 (2022)
Single-cell transcriptomic atlas-guided development of chimeric antigen-receptor (CAR) T cells for the treatment of acute myeloid leukemia.
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Single-cell MultiOmic analysis of CHIP bone marrow stem and progenitor cells provides evidence of early-stage malignant transformation.
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Isolation of nuclei from flash-frozen liver tissue for single-cell multiomics.
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Objective hearing threshold identification from auditory brainstem response measurements using supervised and self-supervised approaches.
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Pooled analysis of epigenome-wide association studies of food consumption in KORA, TwinsUK and LLS.
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A generalizable brain extraction net (BEN) for multimodal MRI data from rodents, nonhuman primates, and humans.
2022 Meeting abstract in Experimental Hematology Exp. Hematol. 111, S150-S150 (2022)
Multiomic analysis of bone marrow hematopoietic stem/progenitor cells revals a potential early stage of malignancy of clonal hematopoiesis of indeterminate potential.
2022 Letter to the Editor in Alzheimer's & Dementia Alzheimers Dement. 18:e067261 (2022)
Interplay of the human exposome, metabolome and gut microbiome in dementia and major depression.
2022 Letter to the Editor in Alzheimer's & Dementia Alzheimers Dement. 18:e067272 (2022)
Interactions between brain and bile acid ratio profiles predict baseline cognitive status.
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Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
2022Vortrag: European Islet Study Group Workshop 2022, June 13-15, 2022, Strasbourg, France. (2022)
Single-cell multiomics cross-species comparison of pancreas development.
In: (AVSS 2022 - 18th IEEE International Conference on Advanced Video and Signal-Based Surveillance, 29 November- 02 December 2022, Madrid, Spain). 2022. DOI: 10.1109/AVSS56176.2022.9959415
Real image super-resolution using GAN through modeling of LR and HR process.
2022 Nature Communications Nat. Commun. 13:2419 (2022)
Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
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T cells modulate the microglial response to brain ischemia.
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Effect of laryngeal jet on dry powder inhaler aerosol deposition: A numerical simulation.
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Spatial transcriptomics landscape of lesions from non-communicable inflammatory skin diseases.
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Whole-exome sequencing study of consanguineous Parkinson's disease families and related phenotypes: Report of Twelve novel variants.
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Dysregulated inflammasome activity in intestinal inflammation - Insights from patients with very early onset IBD.
2022 Letter to the Editor in Journal of the National Cancer Institute J. Natl. Cancer Inst. 115, 231-232 (2022)
Reply to Evans and Woodward.
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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
2022 Letter to the Editor in Development / Company of Biologists Development 149:dev201404 (2022)
In preprints: Improving and interrogating embryo models.
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Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
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Targeted drug delivery with polydisperse particle transport and deposition in patient-specific upper airway during inhalation and exhalation.
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Screening for eukaryotic motifs in Legionella pneumophila reveals Smh1 as bacterial deacetylase of host histones.
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MRI based scoring of the diseased lung in the preterm infant with BPD.
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TREML2 gene expression and its missense variant rs3747742 associate with white matter hyperintensity volume and Alzheimer's disease-related brain atrophy in the general population.
2022 Editorial in Movement Disorders Mov. Disord. 38, 23-24 (2022)
Nuclear pore complex dysfunction in dystonia pathogenesis: Nucleoporins in the spotlight.
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Allelic correlation is a marker of trade-offs between barriers to transmission of expression variability and signal responsiveness in genetic networks.
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TDP-43 condensates and lipid droplets regulate the reactivity of microglia and regeneration after traumatic brain injury.
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Confirmation of a causal role for SHQ1 variants in early infantile-onset recessive dystonia.
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Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
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Evaluation of a linear measurement tool in virtual reality for assessment of multimodality imaging data-A phantom study.
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Reply to letter: Neurodevelopmental gene-related dystonia: A pediatric case with NAA15 variant.
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Correction: A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: A case report.
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Solvability of some integro-differential equations with transport and concentrated sources.
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Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
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Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially.
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A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).".
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Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier.
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Learning tree structures from leaves for particle decay reconstruction.
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Make deep learning algorithms in computational pathology more reproducible and reusable.
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Topology adaptive graph estimation in high dimensions.
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Emerging approaches to multiple chronic condition assessment.
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Author Correction: Detection of aberrant splicing events in RNA-seq data using FRASER.
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Teaching case 1-2020-ADDENDUM: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to a novel CSF1R mutation - An unusual cause of dementia.
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Linear and nonlinear non-Fredholm operators and their applications.
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2021 Scientific Article in Nature human behaviour Nat. Hum. Behav. 5, 1717-1730 (2021)
Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour.
2021 Editorial in Lecture Notes in Computer Science Lect. Notes Comput. Sc. 12928 LNCS, v-vii (2021)
Preface.
2021 Scientific Article in Journal of General Virology J. Gen. Virol. 102:001653 (2021)
Head-to-head evaluation of seven different seroassays including direct viral neutralisation in a representative cohort for SARS-CoV-2.
2021 Scientific Article in Science of the Total Environment, The Sci. Total Environ. 797:149031 (2021)
Spatially resolved qualified sewage spot sampling to track SARS-CoV-2 dynamics in Munich - One year of experience.
2021 Scientific Article in EBioMedicine EBioMedicine 70:103502 (2021)
A dried blood spot protocol for high throughput analysis of SARS-CoV-2 serology based on the Roche Elecsys anti-N assay.
2021 Scientific Article in Environmental Research Environ. Res. 204:112049 (2021)
Prenatal exposure to neurotoxic metals and micronutrients and neurodevelopmental outcomes in early school age children from Poland.
2021 Review in Molecular Medicine Mol. Med. 27:111 (2021)
Circuit imaging biomarkers in preclinical and prodromal Parkinson's disease.
2021 Scientific Article in Nature Genetics Nat. Genet. 53, 1300-1310 (2021)
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
2021 Scientific Article in Frontiers in Public Health Front. Publ. Health 9:583377 (2021)
Group testing for SARS-CoV-2 allows for up to 10-fold efficiency increase across realistic scenarios and testing strategies.
2021 Scientific Article in Molecular Metabolism Mol. Metab. 54:101330 (2021)
Vertical sleeve gastrectomy triggers fast β-cell recovery upon overt diabetes.
2021 Scientific Article in Clinical Genetics Clin. Genet., DOI: 10.1111/cge.14061 (2021)
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
2021 Scientific Article in Nature Communications Nat. Commun. 12:5228 (2021)
EpiScanpy: Integrated single-cell epigenomic analysis.
In: The Many Facets of Complexity Science. 2021. 185-192
On the necessary conditions for preserving the nonnegative cone: Mixed diffusion.
2021 Review in Molecular Systems Biology Mol. Syst. Biol. 17:e10282 (2021)
RNA velocity-current challenges and future perspectives.
2021 Scientific Article in JCI insight JCI insight 6:e150862 (2021)
Self-sustaining interleukin-8 loops drive a prothrombotic neutrophil phenotype in severe COVID-19.
2021 Scientific Article in Journal of Imaging J. Imaging 7:151 (2021)
A virtual reality system for improved image-based planning of complex cardiac procedures.
2021 Scientific Article in Genome Biology Genome Biol. 22:248 (2021)
Sfaira accelerates data and model reuse in single cell genomics.
2021 Scientific Article in Environmental Health: A Global Access Science Source Environ. Health 20:95 (2021)
Human-Biomonitoring derived exposure and Daily Intakes of Bisphenol A and their associations with neurodevelopmental outcomes among children of the Polish Mother and Child Cohort Study.
2021 Review in Nature Methods Nat. Methods, DOI: 10.1038/s41592-021-01241-0 (2021)
The AIMe registry for artificial intelligence in biomedical research.
2021 Scientific Article in Nature metabolism Nat. Metab. 3, 1202-1216 (2021)
Diet-induced alteration of intestinal stem cell function underlies obesity and prediabetes in mice.
2021 Scientific Article in International Journal of Molecular Sciences Int. J. Mol. Sci. 22:10135 (2021)
Inferred ancestral origin of cancer cell lines associates with differential drug response.
2021 Scientific Article in Cell Cell 184, 4784-4818.e17 (2021)
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
2021 Scientific Article in Nature Biotechnology Nat. Biotechnol., DOI: 10.1038/s41587-021-01001-7 (2021)
Mapping single-cell data to reference atlases by transfer learning.
2021 Scientific Article in BMC Infectious Diseases BMC Infect. Dis. 21:925 (2021)
From first to second wave: Follow-up of the prospective COVID-19 cohort (KoCo19) in Munich (Germany).
2021 Scientific Article in Annals of Hematology Ann. Hematol., DOI: 10.1007/s00277-021-04647-0 (2021)
Ruxolitinib-treated polycythemia vera patients and their risk of secondary malignancies.
2021 Scientific Article in Annals of Clinical and Translational Neurology Ann. Clin. Transl. Neurol., DOI: 10.1002/acn3.51444 (2021)
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.
2021 Scientific Article in Cell Reports Cell Rep. 36:109507 (2021)
Cell-to-cell variability in JAK2/STAT5 pathway components and cytoplasmic volumes defines survival threshold in erythroid progenitor cells.
2021 Review in Current Opinion in Systems Biology Curr. Opin. Syst. Biol. 28:100358 (2021)
Dynamic models for metabolomics data integration.
2021 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 90, 73-78 (2021)
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
2021 Review in Frontiers in Immunology Front. Immunol. 12:712870 (2021)
Antigen-specific Treg therapy in type 1 diabetes - challenges and opportunities.
2021 Review in Bulletin of Mathematical Biology Bull. Math. Biol. 83:95 (2021)
Dimension estimate of uniform attractor for a model of high intensity focussed ultrasound-induced thermotherapy.
2021 Scientific Article in Applied Sciences Appl. Sci. 11:6986 (2021)
Early-, late-, and very late-term prediction of target lesion failure in coronary artery stent patients: An international multi-site study.
2021 Scientific Article in Nature Communications Nat. Commun. 12:4515 (2021)
Single-cell RNA sequencing reveals ex vivo signatures of SARS-CoV-2-reactive T cells through 'reverse phenotyping'.
2021 Review in Lancet Neurology, The Lancet Neurol. 20, 671-684 (2021)
Biomarkers of conversion to α-synucleinopathy in isolated rapid-eye-movement sleep behaviour disorder.
2021 Review in International Journal of Molecular Sciences Int. J. Mol. Sci. 22:9297 (2021)
Development, diversity and death of mge-derived cortical interneurons.
2021 Scientific Article in Brain communications Brain Commun. 3:fcab139 (2021)
Serum metabolites associated with brain amyloid beta deposition, cognition and dementia progression.
2021 Scientific Article in Bone Reports Bone Rep. 15:101110 (2021)
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta.
2021 Scientific Article in Frontiers in Genetics Front. Genet. 12:685035 (2021)
Biallelic COA7-variants leading to developmental regression with progressive spasticity and brain atrophy in a Chinese patient.
2021 Scientific Article in Scientific Reports Sci. Rep. 11:14505 (2021)
Tree-aggregated predictive modeling of microbiome data.
2021 Scientific Article in Bioinformatics Bioinformatics 37, 4493-4500 (2021)
Efficient gradient-based parameter estimation for dynamic models using qualitative data.
2021 Scientific Article in EPJ Data Science EPJ Data Sci. 10:37 (2021)
The impact of digital contact tracing on the SARS-CoV-2 pandemic-a comprehensive modelling study.
2021 Scientific Article in Clinical Genetics Clin. Genet. 100, 489-490 (2021)
A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia.
2021 Scientific Article in Clinical Epigenetics Clin. Epigenet. 13:143 (2021)
Methylation status of nc886 epiallele reflects periconceptional conditions and is associated with glucose metabolism through nc886 RNAs.
2021 Scientific Article in Blood Blood 138, 1917-1927 (2021)
Highly accurate differentiation of bone marrow cell morphologies using deep neuralnetworks on a large image dataset
2021 Scientific Article in Nature Genetics Nat. Genet. 53, 1006-1021 (2021)
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
2021 Scientific Article in Cell Systems Cell Syst. 12, 706-715.e4 (2021)
AutoGeneS: Automatic gene selection using multi-objective optimization for RNA-seq deconvolution.
2021 Scientific Article in Viruses Viruses 13:1308 (2021)
HCV spread kinetics reveal varying contributions of transmission modes to infection dynamics.
2021 Nature Cell Biology Nat. Cell Biol., DOI: 10.1038/s41556-021-00735-5 (2021)
Publisher Correction: Epithelial cell plasticity drives endoderm formation during gastrulation.
2021 Scientific Article in International Journal of Molecular Sciences Int. J. Mol. Sci. 22:7835 (2021)
Muscular and molecular pathology associated with SPATA5 deficiency in a child with EHLMRS.
2021 Genetics in Medicine Genet. Med., DOI: 10.1038/s41436-021-01280-0 (2021)
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
2021 Letter to the Editor in Journal of Radiation Research J. Radiat. Res. 62, 420-424 (2021)
A comment on: 'Absorbed radiation doses in the thyroid as estimated by UNSCEAR and subsequent risk of childhood thyroid cancer following the Great East Japan'.
2021 Scientific Article in Cell Metabolism Cell Metab. 33, 1685-1700.e9 (2021)
Liver-fibrosis-activated transcriptional networks govern hepatocyte reprogramming and intra-hepatic communication.
2021 Scientific Article in ERJ Open Research ERJ Open Res. 7:00104-2021 (2021)
Comparison of genome-wide gene expression profiling by RNA Sequencing versus microarray in bronchial biopsies of COPD patients before and after inhaled corticosteroid treatment: Does it provide new insights?
2021 Scientific Article in NeuroImage - a Journal of Brain Function Neuroimage 240:118327 (2021)
Convolutional neural networks for cytoarchitectonic brain mapping at large scale.
2021 Scientific Article in Genome Biology Genome Biol. 22:191 (2021)
A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion.
2021 Scientific Article in Nature Communications Nat. Commun. 12:4264 (2021)
Single-nucleus RNA-seq2 reveals functional crosstalk between liver zonation and ploidy.
2021 Scientific Article in Brain: A Journal of Neurology Brain 144:e72 (2021)
MATR3 haploinsufficiency and early-onset neurodegeneration.
2021 Scientific Article in Molecular Metabolism Mol. Metab. 53, 101295 (2021)
Correlation guided Network Integration (CoNI) reveals novel genes affecting hepatic metabolism.
2021 Scientific Article in European Journal of Pharmaceutical Sciences Eur. J. Pharm. Sci. 164:105911 (2021)
Flow structure and particle deposition analyses for optimization of a pressurized metered dose inhaler (pMDI) in a model of tracheobronchial airway.
2021 Scientific Article in Cardiovascular Research Cardiovasc. Res. 118:1742–1757 (2021)
Chronically elevated branched chain amino acid levels are pro-arrhythmic.
2021 Scientific Article in Genetics in Medicine Genet. Med. 23, 1705-1714 (2021)
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
2021 Review in Cell Systems Cell Syst. 12, 522-537 (2021)
Machine learning for perturbational single-cell omics.
2021 Scientific Article in Physiological reports Physiol. Rep. 9:e14885 (2021)
Physiological extremes of the human blood metabolome: A metabolomics analysis of highly glycolytic, oxidative, and anabolic athletes.
2021 Scientific Article in Brain: A Journal of Neurology Brain 144:e74 (2021)
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
2021 Scientific Article in Nature biomedical engineering Nat. Bio. Eng. 5, 1246-1260 (2021)
T cells armed with C-X-C chemokine receptor type 6 enhance adoptive cell therapy for pancreatic tumours.
2021 Review in Current Opinion in Systems Biology Curr. Opin. Syst. Biol. 28, 100355 (2021)
Mechanistic models of blood cell fate decisions in the era of single-cell data.
2021 Scientific Article in Genetics in Medicine Genet. Med. 23, 1873-1881 (2021)
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
2021 Scientific Article in Movement Disorders Mov. Disord. 36, 2203-2204 (2021)
NR4A2 and dystonia with dopa responsiveness.
2021 Scientific Article in Clinical Epigenetics Clin. Epigenet. 13:121 (2021)
DNAm-based signatures of accelerated aging and mortality in blood are associated with low renal function.
2021 Scientific Article in Genetics in Medicine Genet. Med. 23, 1715–1725 (2021)
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
2021 Scientific Article in Frontiers in neurology Front. Neurol. 12:662910 (2021)
Deep brain stimulation in KMT2B-related dystonia: Case report and review of the literature with special emphasis on dysarthria and speech.
2021 Scientific Article in Nature Genetics Nat. Genet. 53, 840-860 (2021)
The trans-ancestral genomic architecture of glycemic traits.
2021 Scientific Article in Science Advances Sci. Adv. 7:eabi5781 (2021)
Combined tumor-directed recruitment and protection from immune suppression enable CAR T cell efficacy in solid tumors.
2021 Scientific Article in Expert Opinion on Drug Discovery Expert Opin. Drug Discov. 16, 991-1007 (2021)
Artificial intelligence in early drug discovery enabling precision medicine.
2021 Scientific Article in Genetic Epidemiology Genet. Epidemiol. 45, 633-650 (2021)
Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study.
2021 Scientific Article in Blood Blood 138, 1727-1732 (2021)
CHIP & HIPs: Clonal hematopoiesis is common in hip arthroplasty patients and associates with autoimmune disease.
2021 Scientific Article in Nature Communications Nat. Commun. 12:3638 (2021)
Integrated analysis of Xist upregulation and X-chromosome inactivation with single-cell and single-allele resolution.
2021 Scientific Article in Journal of the American Society of Nephrology J. Am. Soc. Nephrol. 32, 1747-1763 (2021)
Plasma proteomics of renal function: A trans-ethnic metaanalysis and Mendelian randomization study.
2021 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 86, 108-113 (2021)
Consistent skin alpha-synuclein positivity in REM sleep behavior disorder-A two center two-to-four-year follow-up study.
2021 Scientific Article in Nature Cell Biology Nat. Cell Biol. 23, 692-703 (2021)
Epithelial cell plasticity drives endoderm formation during gastrulation.
2021 Scientific Article in Nature Nature (2021)
Swarm Learning for decentralized and confidential clinical machine learning.
2021 Scientific Article in Frontiers in Immunology Front. Immunol. 12:688436 (2021)
Broad T cell targeting of structural proteins after SARS-CoV-2 infection: High throughput assessment of T cell reactivity using an automated interferon gamma release assay.
2021 Scientific Article in Molecular Psychiatry Mol. Psychiatry 26, 7372–7383 (2021)
A metabolome-wide association study in the general population reveals decreased levels of serum laurylcarnitine in people with depression.
2021 Scientific Article in Nature Structural & Molecular Biology Nat. Struct. Mol. Biol. 28, 521-532 (2021)
Retinoic acid signaling is critical during the totipotency window in early mammalian development.
2021 Review in American Journal of Human Genetics, The Am. J. Hum. Genet. 108, 1330-1341 (2021)
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
2021 Scientific Article in Frontiers in Genetics Front. Genet. 12:638749 (2021)
Identification of a novel variant in MT-CO3 causing MELAS.
2021 Scientific Article in Frontiers in cell and developmental biology Front. Cell Dev. Biol. 9:662056 (2021)
NG2-glia transiently overcome their homeostatic network and contribute to wound closure after brain injury.
2021 Scientific Article in Behavior research methods Behav. Res. Methods 53, 2650-2667 (2021)
Statistical modeling of dynamic eye-tracking experiments: Relative importance of visual stimulus elements for gaze behavior in the multi-group case.
2021 Scientific Article in Scientific Reports Sci. Rep. 11:12848 (2021)
Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes.
2021 Scientific Article in Movement Disorders Mov. Disord. 36, 1984-1985 (2021)
A recurrent VPS16 p.Arg187* nonsense variant in early-onset generalized dystonia.
2021 Scientific Article in Journal of Sleep Research J. Sleep Res. 30:e13311 (2021)
Investigation of dopaminergic signalling in Meis homeobox 1 (Meis1) deficient mice as an animal model of restless legs syndrome.
2021 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 87, 119-121 (2021)
The rare and the common: An Austrian DRPLA family harboring the European haplotype.
2021Vortrag: ISMB/ECCB, 25-30 July 2021, virtual. (2021)
Predicting T cell activation for mutational epitopes.
2021 Scientific Article in Genome Research Genome Res. 31, 747-761 (2021)
DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.
2021 Scientific Article in Allergy Allergy 76, 2827-2839 (2021)
An exhausted phenotype of TH2 cells is primed by allergen exposure, but not reinforced by allergen-specific immunotherapy.
2021 Scientific Article in Neurological sciences Neurol. Sci. 42, 3883-3884 (2021)
Trisomy X syndrome with dystonia and a pathogenic SATB1 variant.
2021 Review in Frontiers in Molecular Biosciences Front. Mol. Biosci. 8:647277 (2021)
How machine learning and statistical models advance molecular diagnostics of rare disorders via analysis of RNA sequencing data.
2021 Scientific Article in Molecular Genetics and Metabolism Mol. Genet. Metab. 133, 362-371 (2021)
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
2021 Scientific Article in Communications Biology Comm. Biol. 4:666 (2021)
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
2021 Communications Biology Comm. Biol. 4:755 (2021)
Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation (Communications Biology, (2021), 4, 1, (666), 10.1038/s42003-021-02114-0).
2021 Scientific Article in Heredity Heredity 127, 190–202 (2021)
Region-level epimutation rates in Arabidopsis thaliana.
2021 Journal of evolution equations J. evol. equ. 21, 5203-5207 (2021)
Correction to: Weighted Energy-Dissipation approach to doubly nonlinear problems on the half line (Journal of Evolution Equations, (2018), 18, 1, (49-74), 10.1007/s00028-017-0390-6).
2021 Scientific Article in Nature Communications Nat. Commun. 12:2785 (2021)
Cellular connectomes as arbiters of local circuit models in the cerebral cortex.
2021 Scientific Article in Nucleic Acids Research Nucleic Acids Res. 49, W185-W192 (2021)
EDGAR3.0: Comparative genomics and phylogenomics on a scalable infrastructure.
2021 Review in Brain: A Journal of Neurology Brain 144, 2610-2615 (2021)
HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia.
2021 Nature Communications Nat. Commun. 12:3302 (2021)
Publisher Correction: Accelerating functional gene discovery in osteoarthritis (Nature Communications, (2021), 12, 1, (467), 10.1038/s41467-020-20761-5).
2021 Scientific Article in Frontiers in artificial intelligence Front. Artif. Intell. 4:625573 (2021)
Artificial intelligence for prognostic scores in oncology: A benchmarking study.
2021 Scientific Article in Movement Disorders Mov. Disord. 36, 959-1964 (2021)
Scoring algorithm-based genomic testing in dystonia: A prospective validation study.
2021 Scientific Article in Nature Communications Nat. Commun. 12:2444 (2021)
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.
2021 Scientific Article in Information and Inference Info. Infern. 10, 195-230 (2021)
Variational regularization of inverse problems for manifold-valued data.
2021 Scientific Article in Annals of the Rheumatic Diseases : ARD online Ann. Rheum. Dis. 80, 1070-1074 (2021)
Linking chondrocyte and synovial transcriptional profile to clinical phenotype in osteoarthritis.
2021 Nature Cell Biology Nat. Cell Biol. 23, 566-576 (2021)
Author Correction: Non-canonical Wnt/PCP signalling regulates intestinal stem cell lineage priming towards enteroendocrine and Paneth cell fates.
2021 Scientific Article in American Journal of Clinical Nutrition Am. J. Clin. Nutr. 114, 134-142 (2021)
Associations of breastfeeding with childhood autoimmunity, allergies, and overweight: The Environmental Determinants of Diabetes in the Young (TEDDY) study.
2021 Scientific Article in Nature machine intelligence Nat. Mach. Intell. 3, 513–526 (2021)
Integration of multiomics data with graph convolutional networks to identify new cancer genes and their associated molecular mechanisms.
2021 Scientific Article in Annals of Neurology Ann. Neurol. 89, 1257-1258 (2021)
A recurrent EIF2AK2 missense variant causes autosomal-dominant isolated dystonia.
2021 Scientific Article in The CRISPR Journal CRISPR J. 4, 178-190 (2021)
Rescue of STAT3 function in hyper-IgE syndrome using adenine base editing.
2021 Scientific Article in Scientific Reports Sci. Rep. 11:7995 (2021)
Tens of images can suffice to train neural networks for malignant leukocyte detection.
2021 Scientific Article in Mammalian Genome Mamm. Genome 32, 332-349 (2021)
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
2021 Scientific Article in Human Mutation Hum. Mutat. 42, 762-776 (2021)
Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
2021 Scientific Article in Gastroenterology Gastroenterology 161, 910-923.e19 (2021)
The colorectal cancer lipidome - identification of a robust tumor-specific lipid species signature.
2021 Scientific Article in Genome Medicine Genome Med. 13:55 (2021)
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
2021 Scientific Article in Brain, Behavior and Immunity Brain Behav. Immun. 95, 256-268 (2021)
Polygenic risk for immuno-metabolic markers and specific depressive symptoms: A multi-sample network analysis study.
2021 Scientific Article in Journal of Medical Genetics J. Med. Genet. 59, 351-357 (2021)
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.
2021 Scientific Article in Bioinformatics Bioinformatics 37, 3676-3677 (2021)
AMICI: High-performance sensitivity analysis for large ordinary differential equation models.
2021 Scientific Article in Molecular Systems Biology Mol. Syst. Biol. 17:e9923 (2021)
Integrated intra- and intercellular signaling knowledge for multicellular omics analysis.
2021 Scientific Article in Scientific Reports Sci. Rep. 11:6806 (2021)
Versatile knowledge guided network inference method for prioritizing key regulatory factors in multi-omics data.
2021 Scientific Article in Journal of Clinical Oncology - JCO J. Clin. Oncol. 39, 1468-1478 (2021)
HER2 expression, test deviations, and their impact on survival in metastatic gastric cancer: Results from the prospective multicenter VARIANZ study.
2021 Scientific Article in Proceedings of the National Academy of Sciences of the United States of America Proc. Natl. Acad. Sci. U.S.A. 118:e2019034118 (2021)
Higher airborne pollen concentrations correlated with increased SARS-CoV-2 infection rates, as evidenced from 31 countries across the globe.
2021 Other: News Item in eLife eLife 10:e67417 (2021)
Should I stay or should I go?
2021 Scientific Article in Frontiers in Physiology Front. Physiol. 12:639722 (2021)
Donor age and red cell age contribute to the variance in lorrca indices in healthy donors for next generation ektacytometry: A pilot study.
2021 Scientific Article in BMC Bioinformatics BMC Bioinformatics 22:123 (2021)
stochprofML: Stochastic profiling using maximum likelihood estimation in R.
2021 Scientific Article in Nature Communications Nat. Commun. 12:1588 (2021)
Asc-1 regulates white versus beige adipocyte fate in a subcutaneous stromal cell population.
2021 Scientific Article in Nature medicine Nat. Med. 27, 471-479 (2021)
Plasma metabolites to profile pathways in noncommunicable disease multimorbidity.
2021 Scientific Article in Journal of Differential Equations J. Differ. Equations 284, 83-101 (2021)
Existence of solutions for some non-Fredholm integro-differential equations with mixed diffusion.
2021 Other: Opinion in Nature Physics Nat. Phys. 17, 555–556 (2021)
Forward thinking on backward tracing.
2021 Scientific Article in Human Mutation Hum. Mutat. 42, 699-710 (2021)
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
2021 Scientific Article in Molecular Metabolism Mol. Metab. 49:101188 (2021)
CD81 marks immature and dedifferentiated pancreatic β-cells.
2021 Scientific Article in Epidemiology Epidemiology 32, 378-388 (2021)
Deep learning-based propensity scores for confounding control in comparative effectiveness research: A large-scale, real-world data study.
2021 Review in Journal of Pathology, The J. Pathol. 254, 430-442 (2021)
The genetics of mitochondrial disease: Dissecting mitochondrial pathology using multi-omic pipelines.
2021 Scientific Article in Clinical Genetics Clin. Genet. 100, 14-28 (2021)
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
2021 Scientific Article in International Journal of Environmental Research and Public Health Int. J. Environ. Res. Public Health 18:3572 (2021)
Prevalence and risk factors of infection in the representative covid-19 cohort munich.
2021 Scientific Article in Physical Review E Phys. Rev. E 103:042310 (2021)
Learning physically consistent differential equation models from data using group sparsity.
2021 Scientific Article in Neurology Neurology 96, e2016-e2027 (2021)
Olfactory testing in Parkinson's Disease & REM behavior disorder: A machine learning approach.
2021 Scientific Article in EMBO Molecular Medicine EMBO Mol. Med. 13:e12871 (2021)
Integrative analysis of cell state changes in lung fibrosis with peripheral protein biomarkers.
2021 Scientific Article in BMC Bioinformatics BMC Bioinformatics 22:103 (2021)
InstantDL: An easy-to-use deep learning pipeline for image segmentation and classification.
2021 Scientific Article in Translational Psychiatry Transl. Psychiatry 11:153 (2021)
Alterations in acylcarnitines, amines, and lipids inform about the mechanism of action of citalopram/escitalopram in major depression.
2021 Scientific Article in Nature Communications Nat. Commun. 12:1309 (2021)
A molecular quantitative trait locus map for osteoarthritis.
2021 Nature Nature 589, E6 (2021)
Publisher Correction: Inhibition of LTβR signalling activates WNT-induced regeneration in lung (Nature, (2020), 588, 7836, (151-156), 10.1038/s41586-020-2882-8).
2021 Review in FEBS Letters FEBS Lett. 595, 1132-1158 (2021)
Genetic basis of mitochondrial diseases.
2021 Scientific Article in Annals of Clinical and Translational Neurology Ann. Clin. Transl. Neurol. 8, 951-955 (2021)
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
2021 Scientific Article in Seizure Seizure 87, 25-29 (2021)
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
2021 Scientific Article in PLoS ONE PLoS ONE 16:e0246901 (2021)
The analysis on the human protein domain targets and host-like interacting motifs for the MERS-CoV and SARS-CoV/CoV-2 infers the molecular mimicry of coronavirus.
2021 Nature Nature 592:E8 (2021)
Publisher Correction: LifeTime and improving European healthcare through cell-based interceptive medicine (Nature, (2020), 587, 7834, (377-386), 10.1038/s41586-020-2715-9).
2021 Scientific Article in Neurogenetics Neurogenetics 22, 137-141 (2021)
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
2021 Scientific Article in Communications Biology Comm. Biol. 4:217 (2021)
A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity.
2021 Scientific Article in iScience iScience 24:102120 (2021)
Computational modeling of stem and progenitor cell kinetics identifies plausible hematopoietic lineage hierarchies.
2021 Scientific Article in Land Land 10:144 (2021)
Impacts of use and abuse of nature in catalonia with proposals for sustainable management.
2021 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 84, 129-134 (2021)
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
2021Vortrag: OARSI - Osteoarthritis Research Society International 2021, 29 April-01 May 2021, virtuell. (2021)
Large-scale transcriptomic analysis reveals new markers of osteoarthritis progression.
2021 PLoS Biology PLoS Biol. 19:e3001132 (2021)
Correction: Reoccuring neural stem cell divisions in the adult zebrafish telencephalon are sufficient for the emergence of aggregated spatio-temporal patterns.
2021 Genome Biology Genome Biol. 22:107 (2021)
Publisher Correction: MTSplice predicts effects of genetic variants on tissue-specific splicing.
2021 Scientific Article in Genome Biology Genome Biol. 22:94 (2021)
MTSplice predicts effects of genetic variants on tissue-specific splicing.
2021 Genetics in Medicine Genet. Med. 23:796 (2021)
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
2021 Scientific Article in Journal of Computational and Graphical Statistics J. Comput. Graph. Stat. 30, 1249-1256 (2021)
Fast computation of latent correlations.
2021 Scientific Article in Clinical Epigenetics Clin. Epigenet. 13:60 (2021)
Epigenome-wide association study of whole blood gene expression in Framingham Heart Study participants provides molecular insight into the potential role of CHRNA5 in cigarette smoking-related lung diseases.
2021 Scientific Article in Journal of Fourier Analysis and Applications, The J. Fourier Anal. Appl. 27:31 (2021)
On recovery guarantees for angular synchronization.
2021 Scientific Article in Journal of the European Academy of Dermatology and Venereology J. Eur. Acad. Dermatol. Venereol. 35, 1386-1392 (2021)
Investigation of gamma secretase gene complex mutations in German population with Hidradenitis suppurativa designate a complex polygenic heritage.
2021 Scientific Article in Scientific Reports Sci. Rep. 11:3285 (2021)
Replication of HLA class II locus association with susceptibility to podoconiosis in three Ethiopian ethnic groups.
2021 Scientific Article in Epidemics Epidemics 34:100439 (2021)
COVID-19 outbreak in Wuhan demonstrates the limitations of publicly available case numbers for epidemiological modeling.
2021 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 108, 346-356 (2021)
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
2021 Scientific Article in PLoS Computational Biology PLoS Comput. Biol. 17:e1008646 (2021)
PEtab-Interoperable specification of parameter estimation problems in systems biology.
2021 Scientific Article in European Journal of Clinical Investigation Eur. J. Clin. Invest. 51:e13500 (2021)
Sars-CoV-2 in Germany: Association between deaths and positive rate.
2021 Nature Communications Nat. Commun. 12:845 (2021)
Author Correction: Genetic architecture of host proteins involved in SARS-CoV-2 infection.
2021 Scientific Article in Scientific Reports Sci. Rep. 11:2696 (2021)
Benchmarking of numerical integration methods for ODE models of biological systems.
2021 Scientific Article in Reproductive Toxicology Reprod. Toxicol. 100, 137-142 (2021)
The secondary sex ratio in Italy over the past eighty years (1940 to 2019) and potential impact of radiological contamination after atmospheric nuclear testing and after Chernobyl: Temporal change-point analysis using Markov Chain Monte Carlo.
2021 Scientific Article in Developmental medicine & child neurology Dev. Med. Child. Neurol. 63, 697-704 (2021)
Incidence and risk factors of cerebral sinovenous thrombosis in infants.
2021 Scientific Article in Science Advances Sci. Adv. 7:eabe4497 (2021)
Single-cell molecular profiling of all three components of the HPA axis reveals adrenal ABCB1 as a regulator of stress adaptation.
2021 Scientific Article in International Journal of Molecular Sciences Int. J. Mol. Sci. 22:850 (2021)
X-linked retinitis pigmentosa caused by non-canonical splice site variants in RPGR.
2021 Scientific Article in Biometrical Journal Biom. J. 63, 1028-1051 (2021)
Generalized expectile regression with flexible response function.
2021 Scientific Article in Nature Communications Nat. Commun. 12:467 (2021)
Accelerating functional gene discovery in osteoarthritis.
2021 Scientific Article in International Journal of Molecular Sciences Int. J. Mol. Sci. 22:801 (2021)
DNA methylation levels in mononuclear leukocytes from the mother and her child are associated with ige sensitization to allergens in early life.
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Fourier transform of percol gradients boosts CNN classification ofhereditary hemolytic anemias.
2021 Scientific Article in Movement disorders clinical practice Mov. Disord. Clin. Pract. 8, 153-155 (2021)
Brittle biballism-dystonia in a pediatric patient with GNAO1 mutation managed using pallidal deep brain stimulation.
2021 Letter to the Editor in Annals of Neurology Ann. Neurol. 89:626 (2021)
Reply to "Truncating VPS16 mutations are rare in early-onset dystonia".
2021Poster: 57th Helmholtz Open Science, 10 February 2021, Online. (2021)
Practical steps towards open and reproducible research.
2021 Scientific Article in Research Square Research Square, in press (2021)
DABC-Net for robust pneumonia segmentation and prediction of COVID-19 progression on chest CT scans.
2021 Scientific Article in Nature Communications Nat. Commun. 12:1185 (2021)
Deep learning the collisional cross sections of the peptide universe from a million experimental values.
2021 Scientific Article in Nature medicine Nat. Med. 27, 546–559 (2021)
Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics.
2021 Scientific Article in Journal of Investigative Dermatology, The J. Invest. Dermatol. 141, 681-685.e6 (2021)
CD23 levels on B cells determine long-term therapeutic response in patients with atopic eczema treated with selective IgE immune apheresis.
2021 Scientific Article in The journal of allergy and clinical immunology J. Allergy Clin. Immunol. 147, 853-856 (2021)
AsthmaMap: An interactive knowledge repository for mechanisms of asthma.
2021 Scientific Article in Metabolites Metabolites 11:89 (2021)
Validation of candidate phospholipid biomarkers of chronic kidney disease in hyperglycemic individuals and their organ-specific exploration in leptin receptor-deficient db/db mouse.
2021 Scientific Article in Colloquium Mathematicum Colloq. Math. 164, 1-9 (2021)
The Pelczynski and Dunford-Pettis properties of the space of uniform convergent fourier series with respect to orthogonal polynomials.
2021 Scientific Article in Clinical Epigenetics Clin. Epigenet. 13:7 (2021)
DNA methylation and lipid metabolism: An EWAS of 226 metabolic measures.
2021 Scientific Article in International Journal of Radiation Biology Int. J. Radiat. Biol. 97, 529-540 (2021)
Posterior subcapsular cataracts are a late effect after acute exposure to 0.5 Gy ionizing radiation in mice.
2021 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 83, 54-55 (2021)
Atypical presentations of DYT1 dystonia with acute craniocervical onset.
2021 Scientific Article in Brain: A Journal of Neurology Brain 144:e22 (2021)
Early-onset phenotype of bi-allelic GRN mutations.
2021 Scientific Article in Movement Disorders Mov. Disord. 36, 520-521 (2021)
A neurodevelopmental disorder with dystonia and chorea resulting from clustering CAMK4 variants.
2021 Scientific Article in Nature Cell Biology Nat. Cell Biol. 23, 23-31 (2021)
Non-canonical Wnt/PCP signalling regulates intestinal stem cell lineage priming towards enteroendocrine and Paneth cell fates.
2021 Scientific Article in Briefings in Bioinformatics Brief. Bioinform. 22:bbaa230 (2021)
Robust Huber-LASSO for improved prediction of protein, metabolite and gene expression levels relying on individual genotype data.
2021 Scientific Article in Nature Protocols Nat. Protoc. 16, 1276–1296 (2021)
Detection of aberrant gene expression events in RNA sequencing data.
2021 Scientific Article in Nature Communications Nat. Commun. 12:529 (2021)
Detection of aberrant splicing events in RNA-seq data using FRASER.
2021 Scientific Article in Nature Genetics Nat. Genet. 53, 54-64 (2021)
A cross-platform approach identifies genetic regulators of human metabolism and health.
2021 Scientific Article in Journal of Clinical Investigation J. Clin. Invest. 131:e138267 (2021)
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
2021 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 108, 134-147 (2021)
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
2021 Scientific Article in Gastroenterology Gastroenterology 160, 346-361.e24 (2021)
Mesenchymal plasticity regulated by Prrx1 drives aggressive pancreatic cancer biology.
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A provably accurate algorithm for recovering compactly supported smooth functions from spectrogram measurements.
2021 Review in Infectious Disease Modelling Infect. Dis. Model. 6, 222-231 (2021)
Contact tracing – Old models and new challenges.
2021 Scientific Article in Journal of Clinical Endocrinology & Metabolism, The J. Clin. Endocrinol. Metab. 106, e1647-e1659 (2021)
A panel of six biomarkers significantly improves the prediction of type 2 diabetes in the MONICA/KORA study population.
2021 Scientific Article in Annals of Neurology Ann. Neurol. 88, 218-232 (2021)
Pediatric leigh syndrome: Neuroimaging features and genetic correlations.
2021 Review in Movement Disorders Mov. Disord. 36, 558-569 (2021)
Consensus guidelines on rodent models of restless legs syndrome.
2021 Scientific Article in Briefings in Bioinformatics Brief. Bioinform. 22, DOI: 10.1093/bib/bbaa290 (2021)
NetCoMi: Network construction and comparison for microbiome data in R.
2021 Scientific Article in Brain: A Journal of Neurology Brain 144, 411-419 (2021)
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
2021 Scientific Article in Life Science Alliance Life Sci. All. 4:e202000924 (2021)
Identification and characterization of distinct brown adipocyte subtypes in C57BL/6J mice.
2021 Scientific Article in Annals of Clinical and Translational Neurology Ann. Clin. Transl. Neurol. 8, 278-283 (2021)
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
2021 Scientific Article in Gene Gene 768:145260 (2021)
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
2021 Scientific Article in JAMA Psychiatry JAMA psychiatry 78, 161-170 (2021)
Dissecting the association between inflammation, metabolic dysregulation, and specific depressive symptoms. A genetic correlation and 2-sample mendelian randomization study.
2021 Scientific Article in Annals of the Rheumatic Diseases : ARD online Ann. Rheum. Dis. 80, 367–375 (2021)
Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene.
2021 Review in Analytica Chimica Acta Anal. Chim. Acta 1141, 144-162 (2021)
Multi-omics integration in biomedical research – A metabolomics-centric review.
2021 Scientific Article in Journal of Pediatric Endocrinology and Metabolism J. Pediatr. Endocrinol. Metab. 34, 389-393 (2021)
ATP synthase deficiency due to m.8528T>C mutation - A novel cause of severe neonatal hyperammonemia requiring hemodialysis.
2021 Scientific Article in Human Mutation Hum. Mutat. 42, 66-76 (2021)
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
2021 Scientific Article in Genetics in Medicine Genet. Med. 23, 384–395 (2021)
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
2021 Scientific Article in Journal of Differential Equations J. Differ. Equations 271, 280-300 (2021)
Solvability in the sense of sequences for some fourth order non-Fredholm operators.
2021 Scientific Article in Molecular Psychiatry Mol. Psychiatry 26, 3004–3017 (2021)
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia.
2021 Scientific Article in Pediatric Allergy and Immunology Pediatr. Allergy Immunol. 32, 295-304 (2021)
Asthma in farm children is more determined by genetic polymorphisms and in non-farm children by environmental factors.
2021 Scientific Article in Movement Disorders Mov. Disord. 36, 230-235 (2021)
Four‐year follow‐up of [18F]fluorodeoxyglucose positron emission tomography–based Parkinson disease–related pattern expression in 20 patients with isolated rapid eye movement sleep behavior disorder shows prodromal progression.
2021 Scientific Article in European Journal of Human Genetics Eur. J. Hum. Genet. 29, 262–270 (2021)
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
2021 Scientific Article in Statistics in Biosciences Stat. Biosci. 13, 217–242 (2021)
Regression models for compositional data: General log-contrast formulations, proximal optimization, and microbiome data applications.
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ML4H Auditing: From Paper to Practice.
2020 Scientific Article in IEEE Transactions on Medical Imaging IEEE Trans. Med. Imaging 39, 4001-4010 (2020)
Deep learning-based detection and correction of cardiac MR motion artefacts during reconstruction for high-quality segmentation.
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Joint left atrial segmentation and scar quantification based on a DNN with spatial encoding and shape attention.
Lecture Notes in Computer Science In: (International Workshop on Advances in Simplifying Medical Ultrasound). 2020. 264-273 (Lect. Notes Comput. Sc. ; 12437 LNCS)
A multi-task approach using positional information for ultrasound placenta segmentation.
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Deep generative models to simulate 2D patient-specific ultrasound images in real time.
2020 Scientific Article in Magnetic Resonance Imaging Magn. Reson. Imaging 70, 155-167 (2020)
A multi-scale variational neural network for accelerating motion-compensated whole-heart 3D coronary MR angiography.
2020 Editorial in IEEE Journal of Biomedical and Health Informatics IEEE J. Biomed. Health Inform. 24, 929-930 (2020)
Guest Editorial: Deep learning in ultrasound imaging.
2020 Scientific Article in European Journal of Radiology Eur. J. Radiol. 126:108934 (2020)
Tumour subregion analysis of colorectal liver metastases using semi-automated clustering based on DCE-MRI: Comparison with histological subregions and impact on pharmacokinetic parameter analysis.
2020 Scientific Article in IEEE Transactions on Bio-Medical Electronics IEEE Trans. Bio. Med. Eng. 67, 79-87 (2020)
Image-based artefact removal in laser scanning microscopy.
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2020 Scientific Article in IEEE Transactions on Pattern Analysis and Machine Intelligence IEEE Trans. Pattern Anal. Mach. Intell., DOI: 10.1109/TPAMI.2020.3013679 (2020)
A Topological Loss Function for Deep-Learning based Image Segmentation using Persistent Homology.
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Iteration-Dependent Networks and Losses for Unrolled deep Learned FBSEM PET Image Reconstruction.
2020 Scientific Article in JACC CardioOncology JACC CardioOnco. 13, 684-695 (2020)
Fully Automated, Quality-Controlled Cardiac Analysis From CMR: Validation and Large-Scale Application to Characterize Cardiac Function.
2020 Scientific Article in Proceedings of the IEEE Proc. IEEE Inst. Electr. Electron. Eng. 108, 110-124 (2020)
Model-Based and Data-Driven Strategies in Medical Image Computing.
2020 Scientific Article in Journal of Women’s Health Care and Management J. Womens Health Care Manage. 2:113 (2020)
The human secondary sex odds in the vicinity of the nuclear power plant Leibstadt in Switzerland, 2002 to 2019.
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Stochastic profiling of mRNA counts using HMC.
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Modelling the impact of spatial proximity on scientific collaboration networks.
2020 Letter to the Editor in Environmental Health: A Global Access Science Source Environ. Health 19:125 (2020)
Response to the “Letter to the Editor” by Alfred Körblein, “Short term increase in low birthweight babies after Fukushima”.
2020 Letter to the Editor in Environmental Health: A Global Access Science Source Environ. Health 19:123 (2020)
Response to the “letter to the editor” by Sani Rachman Soleman et al., “spatiotemporal association of low birth weight with Cs-137 deposition at the prefecture level in Japan after the Fukushima nuclear power plant accidents”.
2020 Scientific Article in Journal of Machine Learning for Biomedical Imaging MELBA 1, Special Issue: Medical Imaging with Deep Learning (MIDL), 1-27 (2020)
An uncertainty-driven GCN refinement strategy for organ segmentation.
2020 Scientific Article 34th Conference on Neural Information Processing Systems (NeurIPS 2020) (2020)
A class of algorithms for general instrumental variable models.
2020 BMC Cancer BMC Cancer 20:1127 (2020)
Correction to: Determining the effects of trastuzumab, cetuximab and afatinib by phosphoprotein, gene expression and phenotypic analysis in gastric cancer cell lines (BMC Cancer, (2020), 20, 1, (1039), 10.1186/s12885-020-07540-7).
2020 EBioMedicine EBioMedicine 61:103072 (2020)
Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730] (EBioMedicine (2020) 54, (S2352396420301055), (10.1016/j.ebiom.2020.102730)).
2020 BMC Public Health BMC Public Health 20:1335 (2020)
Protocol of a population-based prospective COVID-19 cohort study Munich, Germany (KoCo19) (vol 20, 1036, 2020).
Lecture Notes in Computer Science In:. 2020. 246-256 (Lect. Notes Comput. Sc. ; 12265 LNCS)
Attention based multiple instance learning for classification of blood cell disorders.
2020 Scientific Article in Cell Systems Cell Syst. 11, 653-662.e8 (2020)
H4K20 methylation is differently regulated by dilution and demethylation in proliferating and cell-cycle-arrested xenopus embryos.
2020 Scientific Article in Cell Reports Cell Rep. 33:108552 (2020)
Charting extracellular transcriptomes in the Human Biofluid RNA Atlas.
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Background and illumination correction for time-lapse microscopy data with correlated foreground.
2020 Scientific Article in Cancer Epidemiology, Biomarkers & Prevention Cancer Epidemiol. Biomarkers Prev. 29, 2719-2728 (2020)
Genetic variants in the regulatory T cell related pathway and colorectal cancer prognosis.
2020 Scientific Article in International Journal of Molecular Sciences Int. J. Mol. Sci. 21:9647 (2020)
Intergenerational metabolomic analysis of mothers with a history of gestational diabetes mellitus and their offspring.
2020 Scientific Article in Nucleic Acids Research Nucleic Acids Res. 48, 11335-11346 (2020)
Predicting single-cell gene expression profiles of imaging flow cytometry data with machine learning.
2020 Scientific Article in Neurobiology of stress Neurobiol. Stress 13:100275 (2020)
A polyepigenetic glucocorticoid exposure score at birth and childhood mental and behavioral disorders.
2020 Scientific Article in Nature Communications Nat. Commun. 11:6397 (2020)
Genetic architecture of host proteins involved in SARS-CoV-2 infection.
2020 Scientific Article in Frontiers in Pharmacology Front. Pharmacol. 11:608737 (2020)
Case Report: Rapid treatment of uridine-responsive epileptic encephalopathy caused by CAD deficiency.
2020 Scientific Article in PLoS ONE PLoS ONE 15:e0244793 (2020)
Decreased sensitivity to the anorectic effects of leptin in mice that lack a Pomc-specific neural enhancer.
2020 Scientific Article in Neurology Genetics Neurol. Genet. 6:e525 (2020)
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
2020 Scientific Article in Scientific Reports Sci. Rep. 10:22039 (2020)
Deep learning networks reflect cytoarchitectonic features used in brain mapping.
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Stable ptychographic phase retrieval via lost subspace completion.
2020 Scientific Article in Frontiers in cell and developmental biology Front. Cell Dev. Biol. 8:619111 (2020)
Xeno-hybrid bone graft releasing biomimetic proteins promotes osteogenic differentiation of hMSCs.
2020 Scientific Article in Bioinformatics Bioinformatics 36, 2, i643-i650 (2020)
Joint epitope selection and spacer design for string-of-beads vaccines.
2020 Scientific Article in Bioinformatics Bioinformatics 36, 2, i610-i617 (2020)
Conditional out-of-distribution generation for unpaired data using transfer VAE.
2020 Scientific Article in IEEE Transactions on Medical Imaging IEEE Trans. Med. Imaging 40, Special Issue on Annotation-efficient Deep Learning for Medical Imaging, 2897-2910 (2020)
Multi-task multi-domain learning for digital staining and classification of leukocytes.
2020 Scientific Article in eLife eLife 9:e60352 (2020)
A statistical framework for assessing pharmacological responses and biomarkers using uncertainty estimates.
2020 Scientific Article in Advances in Data Analysis and Classification Adv. Data Anal. Classif. 14, 885-896 (2020)
Adapted single-cell consensus clustering (adaSC3).
2020 Scientific Article in Journal of extracellular vesicles J. Extra. Vesicles 9:1792683 (2020)
In vivo identification of apoptotic and extracellular vesicle-bound live cells using image-based deep learning.
2020 Scientific Article in Nature Nature 588, 466-472 (2020)
Cells of the adult human heart.
2020 Review in Tumor Diagnostik und Therapie Tumordiagnos. Ther. 41, 666-668 (2020)
Zytomorphologische Diagnostik mithilfe von künstlicher Intelligenz (KI).
2020 Review in Annual Review of Genetics Annu. Rev. Genet. 54, 167-187 (2020)
Measuring and modeling single-cell heterogeneity and fate decision in mouse embryos.
2020 Scientific Article in Genetics in Medicine Genet. Med., DOI: 10.1038/s41436-020-01020-w (2020)
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
2020 Review in Frontiers in cell and developmental biology Front. Cell Dev. Biol. 8:600079 (2020)
The dimensions of primary mitochondrial disorders.
2020 Scientific Article in Science Advances Sci. Adv. 6:106267 (2020)
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
2020 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 107, 1113-1128 (2020)
DAAM2 variants cause nephrotic syndrome via actin dysregulation.
2020 Scientific Article in PLoS Biology PLoS Biol. 18:e3000708 (2020)
Reoccurring neural stem cell divisions in the adult zebrafish telencephalon are sufficient for the emergence of aggregated spatiotemporal patterns.
2020 Scientific Article in Nature Genetics Nat. Genet. 52, 1314–133 (2020)
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
2020 Scientific Article in Nature Communications Nat. Commun. 11:6336 (2020)
Whole-genome sequencing analysis of the cardiometabolic proteome.
2020 Scientific Article in Scientific Reports Sci. Rep. 10:21543 (2020)
Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents.
2020 Scientific Article in Metabolites Metabolites 10:468 (2020)
Blood metabolomic profiling confirms and identifies biomarkers of food intake.
2020 Scientific Article in Proteomes Proteomes 8:30 (2020)
Radiation response of human cardiac endothelial cells reveals a central role of the CGAS-sting pathway in the development of inflammation.
2020 Scientific Article in Photoacoustics Photoacoustics 20:100203 (2020)
A sparse deep learning approach for automatic segmentation of human vasculature in multispectral optoacoustic tomography.
2020 Scientific Article in Scientific Reports Sci. Rep. 10:18175 (2020)
Computing the adaptive cycle.
2020 Review in Frontiers in Applied Mathematics and Statistics Front. App. Math. Stat. 6:556585 (2020)
Phase distortion by linear signal transforms.
2020 Scientific Article in Lecture Notes in Computer Science Lect. Notes Comput. Sc. 12396 LNCS, 105-114 (2020)
Learning Tn5 sequence bias from ATAC-seq on naked chromatin.
2020 Scientific Article in Lancet Neurology, The Lancet Neurol. 19, 908-918 (2020)
Monogenic variants in dystonia: An exome-wide sequencing study.
2020 Scientific Article in Royal Society Open Science R. Soc. Open Sci. 7:200270 (2020)
Bayesian inference for diffusion processes: Using higher-order approximations for transition densities.
2020 Scientific Article in PLoS Genetics PLoS Genet. 16:e1008718 (2020)
Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.
2020 Scientific Article in Nature Communications Nat. Commun. 11:5153 (2020)
A strategy to incorporate prior knowledge into correlation network cutoff selection.
2020 Scientific Article in Scientific Data Sci. Data 7:340 (2020)
Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions.
2020 Scientific Article in Genome Biology Genome Biol. 21:33023650 (2020)
AlphaBeta: Computational inference of epimutation rates and spectra from high-throughput DNA methylation data in plants.
2020 Scientific Article in Genome Biology Genome Biol. 21:259 (2020)
A genome assembly and the somatic genetic and epigenetic mutation rate in a wild long-lived perennial Populus trichocarpa.
2020 Scientific Article in iScience iScience 23:101601 (2020)
MitoSegNet: Easy-to-use deep learning segmentation for analyzing mitochondrial morphology.
2020 Scientific Article in Nature machine intelligence Nat. Mach. Intell. 2, 719-726 (2020)
Self-supervised retinal thickness prediction enables deep learning from unlabelled data to boost classification of diabetic retinopathy.
2020 Scientific Article in Nature Communications Nat. Commun. 11:5653 (2020)
Injury triggers fascia fibroblast collective cell migration to drive scar formation through N-cadherin.
2020 Scientific Article in European Journal of Human Genetics Eur. J. Hum. Genet. 29, 411–421 (2020)
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
2020 Scientific Article in Nature Nature 588, 151–156 (2020)
Inhibition of LTβR signalling activates WNT-induced regeneration in lung.
2020 Scientific Article in Nature Communications Nat. Commun. 11:5698 (2020)
Concordant peripheral lipidome signatures in two large clinical studies of Alzheimer’s disease.
2020 Scientific Article in BMC Cancer BMC Cancer 20:1039 (2020)
Determining the effects of trastuzumab, cetuximab and afatinib by phosphoprotein, gene expression and phenotypic analysis in gastric cancer cell lines.
2020 Scientific Article in Patterns Patterns 1:100065 (2020)
Identification of intrinsic drug resistance and its biomarkers in high-throughput pharmacogenomic and CRISPR screens.
2020 Scientific Article in Clinical Epigenetics Clin. Epigenet. 12:157 (2020)
Smoking-related changes in DNA methylation and gene expression are associated with cardio-metabolic traits.
2020 Scientific Article in PLoS Computational Biology PLoS Comput. Biol. 16:e1008237 (2020)
Graph-theoretical formulation of the generalized epitope-based vaccine design problem.
2020 Scientific Article in Discrete and Continuous Dynamical Systems. Series B Discrete Contin. Dyn. Syst.-Ser. B 25, 4127-4164 (2020)
Analyzing plasmid segregation: Existence and stability of the eigensolution in a non-compact case.
2020 Scientific Article in Early Human Development Early Hum. Dev., DOI: 10.1016/j.earlhumdev.2020.105210 (2020)
COVID-19: Mathematical estimation of delay to deaths in relation to upsurges in positive rates.
2020 Review in Nervenarzt, Der Nervenarzt 91, 1085–1095 (2020)
Die Rolle des Darmmikrobioms beim idiopathischen Parkinson-Syndrom.
2020 Review in Nature Nature 587, 377–386 (2020)
LifeTime and improving European healthcare through cell-based interceptive medicine.
2020 Scientific Article in Acta Scientiarum Mathematicarum Acta Sci. Math. 86, 331-342 (2020)
Weighted shift operators, orthogonal polynomials and chain sequences.
2020 Scientific Article in Neurogenetics Neurogenetics 22, 81–86 (2020)
Familial writer's cramp: A clinical clue for inherited coenzyme Q10 deficiency.
2020 Scientific Article in Scientific Reports Sci. Rep. 10:14059 (2020)
Peripheral serum metabolomic profiles inform central cognitive impairment.
2020 Scientific Article in PLoS Genetics PLoS Genet. 16:e1009010 (2020)
Candidate variants in TUB are associated with familial tremor.
2020 Scientific Article in Pediatric Pulmonology Pediatr. Pulmonol. 55, 3057-3066 (2020)
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
2020 Scientific Article in Annals of Neurology Ann. Neurol. 88, 867-877 (2020)
Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early onset dystonia associated with lysosomal abnormalities.
2020 Scientific Article in Clinical Genetics Clin. Genet. 98, 507-514 (2020)
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
2020 Scientific Article in Molecular Systems Biology Mol. Syst. Biol. 16:e9416 (2020)
Predicting antigen specificity of single T cells based on TCR CDR3 regions.
2020 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 107, 364-373 (2020)
Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia.
2020 Review in Journal of clinical sleep medicine J. Clin. Sleep Med. 16, 1815-1817 (2020)
Therapeutic effectiveness of thalidomide in a patient with treatment-resistant restless legs syndrome.
2020 Meeting abstract in Human Heredity Hum. Hered. 84, 220-220 (2020)
Exploring the genetic architecture of the human neurological proteome using whole genome sequencing.
2020 Meeting abstract in Human Heredity Hum. Hered. 84, 213-213 (2020)
A comprehensive transcriptional map of knee osteoarthritis.
2020 Meeting abstract in Human Heredity Hum. Hered. 84, 216-217 (2020)
Genomic architecture of 184 plasma proteins in 18,884 individuals: The SCALLOP consortium.
2020 Scientific Article in Genetics in Medicine Genet. Med. 22, 1863-1873 (2020)
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
2020 Review in EBioMedicine EBioMedicine 56:102784 (2020)
Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.
2020 Scientific Article in Nature Communications Nat. Commun. 11:3559 (2020)
Alveolar regeneration through a Krt8+transitional stem cell state that persists in human lung fibrosis.
2020 Scientific Article in mBio mBio 11:e00912-20 (2020)
Evolutionary stabilization of cooperative toxin production through a bacterium-plasmid-phage interplay.
2020 Scientific Article in Journal of Mathematical Biology J. Math. Biol. 81, 603–623 (2020)
Parameterization of mechanistic models from qualitative data using an efficient optimal scaling approach.
2020 Scientific Article in Multiscale Modeling and Simulation Multiscale Model. Simul. 18, 674-706 (2020)
Wavelet sparse regularization for manifold-valued data.
2020 Scientific Data Sci. Data 7:247 (2020)
Author Correction: COVID-19 Disease Map, building a computational repository of SARS-CoV-2 virus-host interaction mechanisms (Scientific Data, (2020), 7, 1, (136), 10.1038/s41597-020-0477-8).
2020 Review in International journal of data science and analytics Int. J. Data Sci. Anal. 10, 233–248 (2020)
Clustering of mixed-type data considering concept hierarchies: Problem specification and algorithm.
2020 Scientific Article in Nature Biotechnology Nat. Biotechnol. 38, 1408–1414 (2020)
Generalizing RNA velocity to transient cell states through dynamical modeling.
2020 Scientific Article in Cell Reports Cell Rep. 32:108059 (2020)
Mitochondrial regulation of the 26S proteasome.
2020 Scientific Article in JCI insight JCI insight 5:e125690 (2020)
MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction.
2020 Scientific Article in Environmental Health: A Global Access Science Source Environ. Health 19:82 (2020)
Spatiotemporal association of low birth weight with Cs-137 deposition at the prefecture level in Japan after the Fukushima nuclear power plant accidents: An analytical-ecologic epidemiological study.
2020 Scientific Article in PLoS ONE PLoS ONE 15:e0236020 (2020)
Associations of area-level deprivation with adverse obstetric and perinatal outcomes in Bavaria, Germany: Results from a cross-sectional study.
2020 Scientific Article in Lancet Respiratory Medicine, The Lancet Resp. Med. 8, 696-708 (2020)
Chronic obstructive pulmonary disease and related phenotypes: Polygenic risk scores in population-based and case-control cohorts.
2020 Scientific Article in Aging Aging 12, 14092-14124 (2020)
Blood DNA methylation sites predict death risk in a longitudinal study of 12,300 individuals.
2020 Scientific Article in Archives of Biochemistry and Biophysics Arch. Biochem. Biophys. 689:108476 (2020)
Proteome-wide assessment of diabetes mellitus in Qatari identifies IGFBP-2 as a risk factor already with early glycaemic disturbances.
2020 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 77, 70-75 (2020)
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
2020 Scientific Article in Parkinsonism & Related Disorders Parkinsonism Relat. Disord. 77, 87-88 (2020)
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.
2020 Scientific Article in Bioinformatics Bioinformatics 36, 1, 551-559 (2020)
Efficient exact inference for dynamical systems with noisy measurements using sequential approximate Bayesian computation.
2020 Scientific Article in Communications Biology Comm. Biol. 3:133 (2020)
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.
2020 Scientific Article in Metabolites Metabolites 10:271 (2020)
Systematic evaluation of normalization methods for glycomics data based on performance of network inference.
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Computational drug repositioning for chagas disease using protein-ligand interaction profiling.
2020 Scientific Article in Leukemia Leukemia, DOI: 10.1038/s41375-020-0945-3 (2020)
Significant association of cutaneous adverse events with hydroxyurea: Results from a prospective non-interventional study inBCR-ABL1-negative myeloproliferative neoplasms (MPN)-on behalf of the German Study Group-MPN.
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Inflammatory macrophage memory in nonsteroidal anti-inflammatory drug–exacerbated respiratory disease.
2020 Scientific Article in Biomolecules Biomolecules 10:963 (2020)
Concise polygenic models for cancer-specific identification of drug-sensitive tumors from their multi-omics profiles.
2020 Scientific Article in BMC Public Health BMC Public Health 20:1036 (2020)
Protocol of a population-based prospective COVID-19 cohort study Munich, Germany (KoCo19).
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Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.
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Differential regulation of the immune system in a brain-liver-fats organ network during short-term fasting.
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2020 Review in Computational and Structural Biotechnology Journal Comp. Struc. Biotech. J. 18, 1330-1341 (2020)
Seq-ing answers: Current data integration approaches to uncover mechanisms of transcriptional regulation.
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Post-surgical adhesions are triggered by calcium-dependent membrane bridges between mesothelial surfaces.
2020 Meeting abstract in Cancer Research Cancer Res. 80, 35-35 (2020)
Predictive modeling, applied to genetically engineered mouse models of breast or lung cancer, provides insights into major oncogenic pathways.
2020 Meeting abstract in Clinical Cancer Research Clin. Cancer Res. 26, 33-34 (2020)
Charting extracellular transcriptomes in The Human Biofluid RNA Atlas.
2020 Scientific Article in Gene Gene 749:144709 (2020)
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
2020 Scientific Article in Gene Gene 753:144815 (2020)
Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex.
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Exome sequencing identifies genes and gene sets contributing to severe childhood obesity, linking PHIP variants to repressed POMC transcription.
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The m.9143T>C variant: Recurrent infections and immunodeficiency as an extension of the phenotypic spectrum in MT-ATP6 mutations?
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Serum triglycerides in Alzheimer disease: Relation to neuroimaging and CSF biomarkers.
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Distribution of ACE2, CD147, CD26, and other SARS-CoV-2 associated molecules in tissues and immune cells in health and in asthma, COPD, obesity, hypertension, and COVID-19 risk factors.
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Single-cell tracing dissects regulation of maintenance and inheritance of transcriptional reinduction memory.
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Stratification and prediction of drug synergy based on target functional similarity.
2020 Meeting abstract in Osteoarthritis and Cartilage Osteoarthr. Cartil. 28, S402-S402 (2020)
Using multivariable mendelian randomization to estimate the BMI-independent causal effect of bone mineral density on osteoarthritis.
2020 Meeting abstract in Osteoarthritis and Cartilage Osteoarthr. Cartil. 28, S54-S54 (2020)
Large-scale genome-wide meta-anaysis provide insights for the development of new disease modifying targets for osteoarthritis.
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease.
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CLUE: A bioinformatic and wet-lab pipeline for multiplexed cloning of custom sgRNA libraries.
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Private variants in PRKN are associated with late-onset Parkinson's disease.
2020 Meeting abstract in Osteoarthritis and Cartilage Osteoarthr. Cartil. 28, S24-S24 (2020)
Polygenic risk score and its potential to improve diagnostic ability in knee and hip osteoarthritis.
2020 Other: Opinion in Scientific Data Sci. Data 7:136 (2020)
COVID-19 Disease Map, building a computational repository of SARS-CoV-2 virus-host interaction mechanisms.
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Approximation of finite Hilbert and Hadamard transforms by using equally spaced nodes.
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Exome sequencing and identification of phenocopies in patients with clinically presumed hereditary nephropathies.
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Alzheimer's risk factors age, APOE genotype, and sex drive distinct. 3 molecular pathways.
Informatik aktuell In: Bildverarbeitung für die Medizin 2020. 2020. 53-54 (Inf. aktuell)
Abstract: Recognition of AML blast cells in a curated single-cell dataset of leukocyte morphologies using deep convolutional neural networks.
2020 Scientific Article in EBioMedicine EBioMedicine 54:102730 (2020)
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
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MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome.
2020 Scientific Article in mBio mBio 11:e03155-19 (2020)
A miRNA network controls Legionella pneumophila replication in human macrophages via LGALS8 and MX1.
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SARS-CoV-2 receptor ACE2 is an interferon-stimulated gene in human airway epithelial cells and is detected in specific cell subsets across tissues.
2020 Scientific Article in Gene Gene 742:144542 (2020)
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.
2020 Review in Calcified Tissue International Calcif. Tissue Int. 109, 257-276 (2020)
The genetic epidemiology of joint shape and the development of osteoarthritis.
2020 Scientific Article in Bioinformatics Bioinformatics 36, 4296-4300 (2020)
COMUNET: A tool to explore and visualize intercellular communication.
2020 Review in Cell Cell 181, 1189-1193 (2020)
Biomedical research goes viral: Dangers and opportunities.
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Gene networks with transcriptional bursting recapitulate rare transient coordinated high expression states in cancer.
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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
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A cloud-based framework for machine learning workloads and applications.
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Mathematical analysis of a PDE-ode coupled model of mitochondrial swelling with degenerate calcium ion diffusion.
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Exposure assessment of toxic metals and organochlorine pesticides among employees of a natural history museum.
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Longitudinal RNA-Seq analysis of the reeatability of gene expression and splicing in human platelets identifies a platelet SELP splice QTL.
2020 Scientific Article in Nature medicine Nat. Med. 26, 681–687 (2020)
SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes.
2020 Nature metabolism Nat. Metab. 2, 380 (2020)
Author Correction: Targeted pharmacological therapy restores β-cell function for diabetes remission (Nature Metabolism, (2020), 2, 2, (192-209), 10.1038/s42255-020-0171-3).
2020 Meeting abstract in Wound repair and regeneration Wound Repair Regen. 28, A16-A16 (2020)
Scar formation is driven by N-cadherin dependent collective fibroblast migration.
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Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.
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Solivability of some integro-differential equations with drift.
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Epithelial planar bipolarity emerges from Notch-mediated asymmetric inhibition of Emx2.
2020 Review in Genome Biology Genome Biol. 21:31 (2020)
Eleven grand challenges in single-cell data science.
2020 Meeting abstract in Wound repair and regeneration Wound Repair Regen. 28, A7-A7 (2020)
Fate trajectory modeling reveals convergence of airway derived progenitors and AT2 cells on transient KRT8+alveolar cell state during lung regeneration.
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Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
2020 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 106, 246-255 (2020)
Bi-allelic variants in RALGAPA1 cause profound neurodevelopmental disability, muscular hypotonia, infantile spasms, and feeding abnormalities.
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The single-cell eQTLGen consortium.
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Rare variants in specific lysosomal genes are associated with Parkinson's disease.
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Perspective maximum likelihood-type estimation via proximal decomposition.
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Associations between adipose tissue volume and small molecules in plasma and urine among asymptomatic subjects from the general population.
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The influence of rare variants in circulating metabolic biomarkers.
2020 Scientific Article in Bioinformatics Bioinformatics 36, 4291-4295 (2020)
Automatic identification of relevant genes from low-dimensional embeddings of single-cell RNA-seq data.
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Domain model explains propagation dynamics and stability of histone H3K27 and H3K36 methylation landscapes.
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ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
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Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
2020 Meeting abstract in Oncology Research and Treatment Oncol. Res. Treat. 43, 65-65 (2020)
Treatment of HER2 positive advanced gastric cancer: Deviations in HER2 results and its impact on survival.
2020 Scientific Article in Life Science Alliance Life Sci. All. 3:e201900499 (2020)
Altering microtubule dynamics is synergistically toxic with spindle assembly checkpoint inhibition.
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Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
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Model-based analysis of response and resistance factors of cetuximab treatment in gastric cancer cell lines.
2020 Scientific Article in Epigenetics & Chromatin Epigenetics Chromatin 13:14 (2020)
Bromodomain and extra-terminal domain (BET) proteins regulate melanocyte differentiation.
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An investigation of psychosis subgroups with prognostic validation and exploration of genetic underpinnings: The PsyCourse study.
2020 Nature Plants Nat. Plants 6:328 (2020)
Author Correction: Widespread long-range cis-regulatory elements in the maize genome.
2020 Review in Mathematical Biosciences Math. Biosci. 321:108320 (2020)
Exact and approximate formulas for contact tracing on random trees.
2020 Scientific Article in PLoS Computational Biology PLoS Comput. Biol. 16:e1007616 (2020)
DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning.
2020 Scientific Article in Nature metabolism Nat. Metab. 2, 192-209 (2020)
Targeted pharmacological therapy restores β-cell function for diabetes remission.
2020 Briefings in Bioinformatics Brief. Bioinform. 22, 608 (2020)
Closing the gap between formats for storing layout information in systems biology.
2020 Scientific Article in Journal of Affective Disorders J. Affect. Disord. 264, 90-97 (2020)
Acylcarnitine metabolomic profiles inform clinically-defined major depressive phenotypes.
2020 Scientific Article in American Journal of Human Genetics, The Am. J. Hum. Genet. 106, 102-111 (2020)
Bi-allelic UQCRFS1 variants are associated with mitochondrial complex III deficiency, cardiomyopathy, and Alopecia Totalis.
2020 Scientific Article in BIT : numerical mathematics BIT Num. Math. 60, 583–589 (2020)
On monotonic estimates of the norm of the minimizers of regularized quadratic functions in Krylov spaces.
2020 Scientific Article in Journal of Theoretical Biology J. Theor. Biol. 488:110118 (2020)
Robust calibration of hierarchical population models for heterogeneous cell populations.
2020 Scientific Article in Mathematics and computers in simulation Math. Comput. Simul. 176, 292-300 (2020)
A direct solver for the phase retrieval problem in ptychographic imaging.
2020 Scientific Article in Bioinformatics Bioinformatics 36, 1260-1261 (2020)
breakpointR: An R/Bioconductor package to localize strand state changes in Strand-seq data.
2020 Scientific Article in IEEE Transactions on Image Processing IEEE Trans. Image Process. 29, 921-933 (2020)
An efficient algorithm for the piecewise affine-linear Mumford-Shah model based on a Taylor jet splitting.
2020 Scientific Article in Journal of the European Academy of Dermatology and Venereology J. Eur. Acad. Dermatol. Venereol. 34, 800-809 (2020)
IL-17C amplifies epithelial inflammation in human psoriasis and atopic eczema.
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Identification of restless legs syndrome genes by mutational load analysis.
2020 Review in Biochimica et Biophysica Acta - Gene Regulatory Mechanisms Biochim. Biophys. Acta-Gene Regul. Mech. 1863:194444 (2020)
Gene networks in cancer are biased by aneuploidies and sample impurities.
2020 Scientific Article in Journal of ethnopharmacology J. Ethnopharmacol. 248, DOI: 10.1016/j.jep.2019.112321 (2020)
Influence of Echeveria gibbiflora DC aqueous crude extract on mouse sperm energy metabolism and calcium-dependent channels.
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Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
2020 Review in Trends in Molecular Medicine Trends Mol. Med. 26, 232-241 (2020)
Strengthening causal inference for complex disease using molecular quantitative trait loci.
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Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia.
2020 Scientific Article in Early Human Development Early Hum. Dev. 141:104869 (2020)
Trends in births and the birth sex ratio in the vicinity of the Mainz research reactor in Germany.
2020 Scientific Article in Genetic Epidemiology Genet. Epidemiol. 44, 79-89 (2020)
Population-wide copy number variation calling using variant call format files from 6,898 individuals.
2020 Scientific Article in Bioinformatics Bioinformatics 36, 594-602 (2020)
Efficient parameterization of large-scale dynamic models based on relative measurements.
2020 Review in Briefings in Bioinformatics Brief. Bioinform. 21, 1249-1260 (2020)
Closing the gap between formats for storing layout information in systems biology.
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Genome-wide functional association networks: Background, data & state-of-the-art resources.
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Altered relaxation times in MRI indicate bronchopulmonary dysplasia.
2020 Scientific Article in Briefings in Bioinformatics Brief. Bioinform. 21, 272-281 (2020)