Prof. Dr. Martin Dugas

Prof. Dr. Martin Dugas

Albert-Schweitzer-Campus 1
48149 Münster

Forschungsschwerpunkte
  • Informatik in der klinischen und translationalen Forschung
  • Single-Source-Informationssysteme
  • Integrierte Analyse von molekularen und klinischen Daten
Vita

Akademische Ausbildung

Weiterbildungsbefugnis für Medizinische Informatik der Ärztekammer Westfalen-Lippe
Zertifikat Biometrie der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie
Habilitation, Erlangung der Venia legendi für Medizinische Informatik an der Ludwig-Maximilians-Universität München, Habilitationsthema: "Die Analyse der Datenqualität und -komplexität in Medizinischen Datenbanken"
Zertifikat Medizinische Informatik der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie
Diplom in Informatik
Studium der Informatik an der FU Hagen
Approbation als Arzt
Promotion zum Dr. med. an der TU München, Dissertationsthema: "Entwicklung einer computergestützten Ganzzell- und Einzelkanal-Analyse"
Studium der Humanmedizin an der Technischen Universität München mit Auslandsaufenthalten in Zürich, London und Montpellier

Beruflicher Werdegang

Managing Director of the Department of Medical Informatics and Biomathematics at the University of Münster
Mitglied der IV-Kommission an der Westfälischen Wilhelms-Universität Münster
Leiter der Abteilung Klinische Systeme des Universitätsklinikums Münster (UKM)
Professor für Medizinische Informatik am Institut für Medizinische Informatik und Biomathematik der Westfälischen Wilhelms-Universität Münster
Mitarbeiter im Bereich Industrieforschung für Krankenhausinformationssysteme bei Siemens Medical Health Services, USA
IT-Beauftragter der Munich-Harvard Alliance for Medical Education der Ludwig-Maximilians-Universität München
Wissenschaftlicher Mitarbeiter am Institut für Medizinische Informatik, Biometrie und Epidemiologie der Ludwig-Maximilians-Universität München

Preis

Best Poster AwardDachverband Reproduktionsbiologie und –medizin (DVR)

Mitgliedschaften und Aktivitäten in Gremien

Mitglied im Gutachtergremium im Bereich "eHealth" für die Europäischen Kommission
Mitglied der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (GMDS)
Projekte
Publikationen
  • , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , und . „ETMR stem-like state and chemo-resistance are supported by perivascular cells at single-cell resolution.Preprint. Nature Communications 16: 5394. doi: 10.1038/s41467-025-60442-9.
  • , , , , , , , , , , , , , , , , und . . „Raising the standards of patient-centered outcomes research in myelodysplastic syndromes: Clinical utility and validation of the subscales of the QUALMS from the MDS-RIGHT project.Cancer medicine 12 (6): 75297539. doi: 10.1002/cam4.5487.
  • , , , , , , , , , , , , , , , , und . . „Raising the standards of patient-centered outcomes research in myelodysplastic syndromes: Clinical utility and validation of the subscales of the QUALMS from the MDS-RIGHT project.Cancer medicine 12 (6): 75297539. doi: 10.1002/cam4.5487.
  • . . „Transcriptomic, Epigenomic, and Neuroanatomic Signatures Differ in Chronic Prurigo, Atopic Dermatitis, and Brachioradial Pruritus.Journal of Investigative Dermatology 143 (2): 264272.e3. doi: 10.1016/j.jid.2022.08.042.
  • . . „Altered resting‐state functional connectivity of default mode network in brachioradial pruritus.Journal of the European Academy of Dermatology and Venereology 2022 (11): 22142223. doi: 10.1111/jdv.18411.
  • , , , , , , , , , , , , , , , , , , , , , , , und . . „Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors.Nature Communications 13 (1): 15441544. doi: 10.1038/s41467-022-29152-4.
  • , , , , , , , , , , und . . „A GWAS in idiopathic/unexplained infertile men detects a genomic region determining Follicle-stimulating hormone levels.Journal of Clinical Endocrinology and Metabolism 107 (8): 23502361. doi: 10.1210/clinem/dgac165.
  • . . „ODM-DQA-Reporter: A Generic Approach to Assess and Monitor Basic Data Quality of Medical Research Data in Operational Data Model (ODM) Format.Studies in Health Technology and Informatics 290: 983984. doi: 10.3233/SHTI220229.
  • , , , , , , , , , , , , und . „Symptom monitoring based on digital data collection during inpatient treatment of schizophrenia spectrum disorders – A feasibility study.Psychiatry Research 316. doi: 10.1016/j.psychres.2022.114773.
  • , , , , , , , , , , , , , , und . „Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.Annals of the American Thoracic Society 19 (8): 12751284. doi: 10.1513/AnnalsATS.202106-728OC.
  • , , , , , , , , , , , , , , , , , , , , , , , , und . . „PRIMORDIAL GERM CELLS IDENTIFIED AS ONE POTENTIAL CELL OF ORIGIN OF MYC RHABDOID TUMORS.Neuro-Oncology 24 Suppl 1: 66. doi: 10.1093/neuonc/noac079.014.
  • , , und . . „InterCellar enables interactive analysis and exploration of cell-cell communication in single-cell transcriptomic data.Communications biology 5 (1): 2121. doi: 10.1038/s42003-021-02986-2.
  • , , , , , , , , , , und . . „Benchmarking atlas-level data integration in single-cell genomics.Nature Methods 19 (1): 4150. doi: 10.1038/s41592-021-01336-8.
  • , , , , , , , , , , , , , , und . . „Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.Annals of the American Thoracic Society 19 (8): 12751284. doi: 10.1513/AnnalsATS.202106-728OC.
  • , , , , , , , , , und . . „Design of a targeted next-generation DNA sequencing panel for pediatric T-cell lymphoblastic lymphoma to unravel biology and optimize treatment.Genes, Chromosomes and Cancer 61 (8): 459470. doi: 10.1002/gcc.23037.
  • , , , , , , , , , , , , und . . „Symptom monitoring based on digital data collection during inpatient treatment of schizophrenia spectrum disorders - A feasibility study.Psychiatry Research 316: 114773114773. doi: 10.1016/j.psychres.2022.114773.
  • , , , , , , , , , und . . „Chronic pruritus patients reveal distinct expression signatures in chronically scratched skin.Experimental Dermatology 31 (2): E87E88.
  • , , , , , und . . „ELaPro, a LOINC-mapped core dataset for top laboratory procedures of eligibility screening for clinical trials.BMC Medical Research Methodology 22 (1): 141141. doi: 10.1186/s12874-022-01611-y.
  • , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , und . . „Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.International Journal of Molecular Sciences 23 (9). doi: 10.3390/ijms23095174.
  • , , , , , , , , , , , , , , , , , , , und . . „Dexamethasone-mediated inhibition of Notch signalling blocks the interaction of leukaemia and mesenchymal stromal cells.British Journal of Haematology 196 (4): 9951006. doi: 10.1111/bjh.17940.
  • , , , , , , , , , , , , , , und . . „Single-cell RNA-seq unravels alterations of the human spermatogonial stem cell compartment in patients with impaired spermatogenesis.Cell reports. Medicine 2 (9). doi: 10.1016/j.xcrm.2021.100395.
  • , , , , , , , , , , , , , , , , , , , und . . „Lack of antibodies against seasonal coronavirus OC43 nucleocapsid protein identifies patients at risk of critical COVID-19.Journal of Clinical Virology 139. doi: 10.1016/j.jcv.2021.104847.
  • , , , , , und . „MainzelHandler: A Library for a Simple Integration and Usage of the Mainzelliste.“ In Public Health and Informatics, Bd.281 aus Studies in Health Technology and Informatics, herausgegeben von John Mantas, Lăcrămioara Stoicu-Tivadar, Catherine Chronaki, Arie Hasman, Patrick Weber, Parisis Gallos, Mihaela Crişan-Vida, Emmanouil Zoulias und Oana Sorina Chirila. online: IOP Publishing. doi: 10.3233/SHTI210155.
  • , , , , , , , und . . „Less severe course of COVID-19 is associated with elevated levels of antibodies against seasonal human coronaviruses OC43 and HKU1 (HCoV OC43, HCoV HKU1).International Journal of Infectious Diseases 105: 304306. doi: 10.1016/j.ijid.2021.02.085.
  • , , , , , , , und . . „The burden in chronic prurigo: patients with chronic prurigo suffer more than patients with chronic pruritus on non-lesional skin: A comparative, retrospective, explorative statistical analysis of 4,484 patients in a real-world cohort.Journal of the European Academy of Dermatology and Venereology 35 (3). doi: 10.1111/jdv.16929.
  • , , , , , , , , , , , , , , , , , , , , , , , und . . „Pruritus Intensity Scales across Europe: a prospective validation study.Journal of the European Academy of Dermatology and Venereology 35 (5): 11761185. doi: 10.1111/jdv.17111.
  • , , , , , , , und . . „The burden in chronic prurigo: patients with chronic prurigo suffer more than patients with chronic pruritus on non-lesional skin A comparative, retrospective, explorative statistical analysis of 4,484 patients in a real-world cohort.Journal of the European Academy of Dermatology and Venereology 35 (3): 738743. doi: 10.1111/jdv.16929.
  • , , , und . „A seamless pseudonymization and randomization workflow for REDCap.“ In Public Health and Informatics: Proceedings of MIE 2021, herausgegeben von J. Mantas, L. Stoicu-Tivadar, C. Chronaki, A. Hasman, P. Weber, P. Gallos, M. Crișan – Vida, E. Zoulias und O.S. Chirila. Niederlande: IOS Press. doi: 10.3233/SHTI210319.
  • , , , , , , , , , , , , , , , , , , und . . „Defective Interfering Genomes and the Full-Length Viral Genome Trigger RIG-I After Infection With Vesicular Stomatitis Virus in a Replication Dependent Manner.Frontiers in immunology 12: 595390595390. doi: 10.3389/fimmu.2021.595390.
  • , , , , , , und . . „Serum concentrations of dihydrotestosterone are associated with symptoms of hypogonadism in biochemically eugonadal men.Journal of Endocrinological Investigation 44 (11): 24652474. doi: 10.1007/s40618-021-01561-0.
  • , , , , , , , und . . „Die Sicherheit des Lebendnierenspenders -- Das Deutsche Lebendspende Register SOLKID-GNR -- Entstehung und Struktur eines nationalen Registers in der Versorgungsforschung.Gesundheitswesen, Supplement 83 (S 01): S33S38. doi: 10.1055/a-1547-7114.
  • , , , , , , , , , , , , , , und . . „Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.European Journal of Human Genetics 29 (8): 13011311. doi: 10.1038/s41431-021-00878-x.
  • , , , und . . „Reliable Measurement of chronic Pruritus in Routine clinical Practice.Journal der Deutschen Dermatologischen Gesellschaft 19 (Suppl 2): 107107.
  • , , , und . . „A Seamless Pseudonymization and Randomization Workflow for REDCap.Studies in Health Technology and Informatics 281: 952956. doi: 10.3233/SHTI210319.
  • , , und . . „An Open-Source, Standard-Compliant, and Mobile Electronic Data Capture System for Medical Research (OpenEDC): Design and Evaluation Study.JMIR medical informatics 9 (11): e29176e29176. doi: 10.2196/29176.
  • , , , , , , , , , , , , , und . . „Pragmatic MDR: a metadata repository with bottom-up standardization of medical metadata through reuse.BMC Medical Informatics and Decision Making 21 (1): 160160. doi: 10.1186/s12911-021-01524-8.
  • , , , , , , und . . „Portal of Medical Data Models: Stakeholder Feedback and Requirements.Studies in Health Technology and Informatics 281: 488489. doi: 10.3233/SHTI210208.
  • , , , , , und . . „FhirExtinguisher: A FHIR Resource Flattening Tool Using FHIRPath.Studies in Health Technology and Informatics 281: 11121113. doi: 10.3233/SHTI210369.
  • , , , , , , , , , , , , , , und . . „The international primary ciliary dyskinesia (PCD) registry reports genotype/phenotype-correlations.“ In Monitoring airway disease, herausgegeben von European Respiratory Journal. online: European Respiratory Society. doi: 10.1183/13993003.congress-2021.PA2233.
  • , , und . . „Comparing SDTM and FHIR® for Real World Data from Electronic Health Records for Clinical Trial Submissions.Studies in Health Technology and Informatics 281: 585589. doi: 10.3233/SHTI210238.
  • , , , und . . „Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML.Cancer Genomics and Proteomics 18 (2): 157166. doi: 10.21873/cgp.20250.
  • , , , , , , , , , und . . „Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.Cancer medicine 10 (4): 13471356. doi: 10.1002/cam4.3741.
  • , , , , , , , , , , , , und . . „Publisher Correction: Reconstructing clonal evolution in relapsed and non-relapsed Burkitt lymphoma.Leukemia 35 (12): 36303630. doi: 10.1038/s41375-021-01359-2.
  • , , und . . „SimFFPE and FilterFFPE: improving structural variant calling in FFPE samples.GigaScience 10 (9). doi: 10.1093/gigascience/giab065.
  • , , , , und . . „Design and Implementation of an Informatics Infrastructure for Standardized Data Acquisition, Transfer, Storage, and Export in Psychiatric Clinical Routine: Feasibility Study.JMIR Mental Health 8 (6): e26681e26681. doi: 10.2196/26681.
  • , , , , , , , , , , , , , , und . . „Validation of the Qualms Questionnaire to Assess Health-Related Quality of Life in European and Israeli Patients with Myelodysplastic Syndromes: Results from the MDS-Right Project.Blood 138 (Supplement 1): 19821982. doi: 10.1182/blood-2021-147176.
  • , , , , , , , , , , , , , , , , , , und . . „Immunophenotyping in pemphigus reveals a TH17/TFH17 cell-dominated immune response promoting desmoglein1/3-specific autoantibody production.Journal of Allergy and Clinical Immunology 147 (6): 23582369. doi: 10.1016/j.jaci.2020.11.008.
  • , , , , , , , , , , , , , , , , , , , und . . „Type 17 T follicular helper cells promote desmoglein 1/3-specific autoantibody production in pemphigus.Experimental Dermatology 30 (3): 6565.
  • , , , , , , , , und . . „Persistent symptoms and lab abnormalities in patients who recovered from COVID-19.Scientific Reports 11 (1): 1277512775. doi: 10.1038/s41598-021-91270-8.
  • , , , , , , , , , und . . „Novel Germline POT1 Variant Predisposes to Childhood Acute Myeloid Leukemia.Blood 138 (Supplement 1): 34493449. doi: 10.1182/blood-2021-150456.
  • , , , , , , , , und . . „A Genome Wide Association Study in men with unexplained infertility identifies nine SNPs at the FSHB locus to be associated with Follicle Stimulating Hormone level.Human Reproduction 36 (Suppl 1): 1011. doi: 10.1093/humrep/deab125.019.
  • , , , , , , , , und . . „Identifying a genomic region at Chromosome 11p.14.1 that is associated to FSH serum level in men with unexplained male infertility.European Urology 79 (Suppl 1): S691S691. doi: 10.1016/S0302-2838(21)00883-6.
  • , , , , , und . . „The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICS data in the context of male infertility.Human Reproduction 35 (9). doi: 10.1093/humrep/deaa155.
  • , , , , , und . . „The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICs data in the context of male infertility.Human Reproduction 35 (9): 19831990. doi: 10.1093/humrep/deaa155.
  • , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , und . . „Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility.American Journal of Human Genetics 107 (2): 342351. doi: 10.1016/j.ajhg.2020.06.010.
  • , , , , , , , und . . „The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis.Clinical Epigenetics 121 (1): 61. doi: 10.1186/s13148-020-00854-0.
  • , , , , , , , , , , , , , , , , , , , , und . . „Integrative genomic analysis of pediatric T- cell lymphoblastic lymphoma reveals candidates of clinical significance.Blood 2020. doi: 10.1182/blood.2020005381.
  • , , , , , , , , , , , , , und . . „Site-specific methylation of 18S ribosomal RNA by SNORD42A is required for acute myeloid leukemia cell proliferation.Blood 135 (23): 20592070. doi: 10.1182/blood.2019004121.
  • , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , und . . „Chronic nodular prurigo: clinical profile and burden. A European cross-sectional study.Journal of the European Academy of Dermatology and Venereology 34 (10): 23732383. doi: 10.1111/jdv.16309.
  • , , , , , , , , , , , , , , , , , , , , , , , , , , , und . . „Chronic Nodular Prurigo: A European Cross-sectional Study of Patient Perspectives on Therapeutic Goals and Satisfaction.Acta dermato-venereologica 2020. doi: 10.2340/00015555-3726.
  • , , , und . . „Assessing and Improving the Usability of the Medical Data Models Portal.Studies in Health Technology and Informatics 271: 199206.
  • , , , , , , , , , , , , , , , , , , und . . „Immunophenotyping in pemphigus reveals a T17/T17 cell-dominated immune response promoting desmoglein1/3-specific autoantibody production.Journal of Allergy and Clinical Immunology 2020. doi: 10.1016/j.jaci.2020.11.008.
  • , , , , , , , , , , , , und . . „Reconstructing clonal evolution in relapsed and non-relapsed Burkitt lymphoma.Leukemia 2020.
  • , und . . „Conceptual Design, Implementation, and Evaluation of Generic and Standard-Compliant Data Transfer into Electronic Health Records.Applied Clinical Informatics 11 (3): 374386.
  • , , , , , und . . „Patient-reported outcomes on familial amyloid polyneuropathy (FAP).Orphanet Journal of Rare Diseases 15 (1): 287.. doi: 10.1186/s13023-020-01575-6.
  • , , , , , , , und . . „Association of contact to small children with a mild course of COVID-19.International Journal of Infectious Diseases 100: 314315. doi: 10.1016/j.ijid.2020.09.003.
  • , , , , , , , , und . . „Repeated Digitized Assessment of Risk and Symptom Profiles During Inpatient Treatment of Affective Disorder: Observational Study.JMIR Mental Health 7 (12): e24066.. doi: 10.2196/24066.
  • , , , , , , , und . . „The burden in chronic prurigo: patients with chronic prurigo suffer more than patients with chronic pruritus on non-lesional skin: A comparative, retrospective, explorative statistical analysis of 4,484 patients in a real-world cohort.Journal of the European Academy of Dermatology and Venereology 2020. doi: 10.1111/jdv.16929.
  • , , , , , , , , , und . . „Feasibility, Safety and Effects of a One-Week, Ski-Based Exercise Intervention in Brain Tumor Patients and Their Relatives: A Pilot Study.Journal of Clinical Medicine 9 (4). doi: 10.3390/jcm9041006.
  • , , , , und . . „The Smart Device System for Movement Disorders: Preliminary Evaluation of Diagnostic Accuracy in a Prospective Study.Studies in Health Technology and Informatics 270: 889893.
  • , , , , , , , , , , , , , , , , , , , , , , , und . . „A proof of concept phase I/II pilot trial of LSD1 inhibition by tranylcypromine combined with ATRA in refractory/relapsed AML patients not eligible for intensive therapy.Leukemia 2020. doi: 10.1038/s41375-020-0892-z.
  • , , , und . . „AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.BMC Medical Genomics 13 (1): 17..
  • , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , und . . „Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.American Journal of Human Genetics 107 (2): 342351. doi: 10.1016/j.ajhg.2020.06.010.
  • , , , , , , , , , , , , , , und . . „Multicenter Next-Generation Sequencing Studies Between Theory and Practice: Harmonization of Data Analysis Using Real-World Myelodysplastic Syndrome Data.Journal of Molecular Diagnostics 2020. doi: 10.1016/j.jmoldx.2020.12.001.
  • , , , , , und . . „CopyDetective: Detection threshold-aware copy number variant calling in whole-exome sequencing data.GigaScience 9 (11). doi: 10.1093/gigascience/giaa118.
  • , , , , , , , , und . . „Does the FSHB c.-211G{\textgreater}T polymorphism impact Sertoli cell number and the spermatogenic potential in infertile patients?Andrology 8 (5): 10301037. doi: 10.1111/andr.12777.
  • , , und . . „[Medical apps-possibilities for pruritus].Der Hautarzt 71 (7): 528534.
  • , , , , , und . . „Evaluation of openEHR Repositories Regarding Standard Compliance.Studies in Health Technology and Informatics 270: 592596.
  • , , , , , , , , und . . „Repeated digitised assessment of risk and symptom profiles during inpatient treatment for affective disorders: Observational study.JMIR Mental Health 7.
  • , , , , und . . „The Smart Device System for Movement Disorders: Preliminary Evaluation of Diagnostic Accuracy in a Prospective Study.Studies in Health technologies and informatics 270.
  • , , , , , , , , und . . „Repeated digitised assessment of risk and symptom profiles during inpatient treatment for affective disorders: Observational study.JMIR Mental Health 7.
  • , , , , , , , , , , , , , und . . „appreci8: a pipeline for precise variant calling integrating 8 tools.Bioinformatics 2018/24/34. doi: 10.1093/bioinformatics/bty518.
  • , , , und . . „Benchmarking of 4C-seq pipelines based on real and simulated data.Bioinformatics 35 (23).
  • , , , , , , , , , , , , , , und . . „Safeguard function of PU.1 shapes the inflammatory epigenome of neutrophils.Nature Immunology Mar 25.
  • , , , und . . „Core Data Elements in Acute Myeloid Leukemia: A Unified Medical Language System-Based Semantic Analysis and Experts' Review.JMIR Med Inf 7 (3): e13554.. doi: 10.2196/13554.
  • , , , , , , , , , und . . „Genetic alterations in human papillomavirus-associated oropharyngeal squamous cell carcinoma of patients with treatment failure.Oral Oncology 93: 5965. doi: 10.1016/j.oraloncology.2019.04.013.
  • , , , , und . . „Common Data Elements for Acute Coronary Syndrome: Analysis Based on the Unified Medical Language System.JMIR medical informatics 7 (3): e14107.. doi: 10.2196/14107.
  • , , , , , , und . . „Compatible Data Models at Design Stage of Medical Information Systems: Leveraging Related Data Elements from the MDM Portal.Studies in Health Technology and Informatics 264: 113117.
  • , , und . . „StudyPortal - Geovisualization of Study Research Networks.Journal of Medical Systems 44 (1): 22..
  • , , und . . „StudyPortal - A Novel Method to Visualize Study Research Networks.Studies in Health Technology and Informatics 258: 163..
  • , , , , , , und . . „A Smart Device System to Identify New Phenotypical Characteristics in Movement Disorders.Frontiers in Neurology 10: 48.. doi: 10.3389/fneur.2019.00048.
  • , , , und . . „Interoperability Improvement of Mobile Patient Survey (MoPat) Implementing Fast Health Interoperability Resources (FHIR).Studies in Health Technology and Informatics 258: 141145.
  • , , , , , , und . . „Portal of Medical Data Models: Status 2018.Studies in Health Technology and Informatics 258: 239240.
  • , , , , , , , , , , , , , , , , , , , , , , , , , und . . „Infectious stimuli promote malignant B-cell acute lymphoblastic leukemia in the absence of AID.Nature Communications 10 (1): 5563..
  • , , , , , , , , , , , , , und . . „Genetic analysis of 24 candidate genes validates TEX14, TEX11, NR5A1 and DMRT1 as clinically relevant for non-obstructive azoospermia.European Journal of Human Genetics 27 2: 1191..
  • , , , , und . . „Reviving 30 Year Old Technology: Lessons Learned from Transferring Patient Data Using Data Matrix Codes.Studies in Health Technology and Informatics 258: 9094.
  • , , , , , , , , und . . „EMR-integrated minimal core dataset for routine health care and multiple research settings: A case study for neuroinflammatory demyelinating diseases.PloS one 14 (10): e0223886..
  • , , , , , , , , und . . „Adverse events in brain tumor surgery: incidence, type, and impact on current quality metrics.Acta Neurochirurgica 161 (2): 287306. doi: 10.1007/s00701-018-03790-4.
  • , , , , , , , , , , und . . „Establishing risk-adjusted quality indicators in surgery using administrative data-an example from neurosurgery.Acta Neurochirurgica 161 (6): 10571065. doi: 10.1007/s00701-018-03792-2.
  • , und . . „REST-based annotation and filtering of Next-Generation Sequencing variant lists with integration into standard office tools.“ Beitrag präsentiert auf der European Conference on Computational Biology (ECCB), Athen doi: 10.7490/f1000research.1116119.1.
  • , , , , , , und . . „Correction to: Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.Y - 2018.European Journal of Pediatrics 177 (1): 61.
  • , , , , , , und . . „Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.Y - 2018.European Journal of Pediatrics 177 (1): 5360.
  • , , , , , , , , , , , , , , , , , , und . . „Temporal auto-regulation during human PU.1 locus SubTAD formation.Blood 132.
  • , , , , , , , , , , , , , , , , , , , , und . . „Loss of Pax5 Exploits Sca1-BCR-ABL Susceptibility to Confer the Metabolic Shift Essential for pB-ALL.Cancer Research 78 (10): 26692679.
  • , , , , , , , , , , , und . . „Mutational spectrum of relapse in pediatric and adolescent patients with T-LBL.British Journal of Haematology 182 1: 20..
  • , , , , , , , und . . „Compatibility Between Metadata Standards: Import Pipeline of CDISC ODM to the Samply.MDR.Studies in Health Technology and Informatics 247: 221225.
  • , , , , , , und . . „Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.European Journal of Pediatrics 177 (1): 5360.
  • , , , , , , und . . „Correction to: Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES.European Journal of Pediatrics 177 (1): 61..
  • , , , , , und . . „A Web Service to Suggest Semantic Codes Based on the MDM-Portal.Studies in Health Technology and Informatics 253: 3539.
  • , , , , , , , , , , , , , , , , , , , , , , , , , , , und . . „Lmo2 expression defines tumor cell identity during T-cell leukemogenesis.The EMBO Journal 37 (14).
  • , , , , , , , , , , und . . „The mutational spectrum of relapsed Burkitt lymphoma in children and adolescents.British Journal of Haematology 182 1 (SI): 80..
  • , , , , und . . „CDEGenerator: an online platform to learn from existing data models to build model registries.Clinical Epidemiology 10: 961970. doi: 10.2147/CLEP.S170075.
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