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A data reduction workflow for mass spectrometry proteoform testing in the clinical laboratory: from antithrombin peaks to diagnosis2026 Clinical Chemistry and Laboratory Medicine (CCLM) article Chemistry Advanced Proteomics Techniques and Applications Open access
Mirjam Kruijt, María Eugenia de la Morena‐Barrio, Javier Corral, Christa M. Cobbaert, L. Renee Ruhaak
0citations -
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
Mev Dominguez–Valentin, Saskia Haupt, Toni T. Seppälä, Julian R. Sampson, Lone Sunde, Inge Bernstein, +93 more
123citations -
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study2022 The American Journal of Human Genetics article Medicine Prenatal Screening and Diagnostics Open access
Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal, Lidewij Henneman, Mireille N. Bekker, Caroline J. Bax, +28 more
98citations -
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 12022 Orphanet Journal of Rare Diseases article Medicine Lysosomal Storage Disorders Research Open access
Andrea Dardis, Helen Michelakakis, Paula Adriana Rozenfeld, Ksenija Fumić, Jasenka Wagner, Eleonora Pavan, +5 more
60citations -
MC38 colorectal tumor cell lines from two different sources display substantial differences in transcriptome, mutanome and neoantigen expression2023 Frontiers in Immunology article Medicine Cancer Immunotherapy and Biomarkers Open access cited by 5 patents
Barbara Schrörs, Brett J. Hos, Ikra Yildiz, Martin Löwer, Franziska Lang, Christoph Holtsträter, +4 more
34citations -
Prevalence and predictors of anti-SARS-CoV-2 serology in a highly vulnerable population of Rio de Janeiro: A population-based serosurvey2022 The Lancet Regional Health - Americas article Medicine SARS-CoV-2 and COVID-19 Research Open access
Lara Esteves Coelho, Paula M. Luz, Débora Castanheira, Emília Moreira Jalil, Hugo Perazzo, Thiago S. Torres, +17 more
28citations -
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, +88 more
28citations -
HLA‐G whole gene amplification reveals linkage disequilibrium between the HLA‐G 3′UTR and coding sequence2020 HLA article Immunology and Microbiology Reproductive System and Pregnancy Open access cited by 4 patents
Jos J. M. Drabbels, Robert Welleweerd, Inge van Rooy, Guro Mørk Johnsen, Anne Cathrine Staff, Geert W. Haasnoot, +4 more
24citations -
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction2023 The Breast article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anja Tüchler, Antoine De Pauw, Corinna Ernst, Amélie Anota, Inge M. M. Lakeman, Julia Dick, +19 more
21citations -
Convolutional Embedded Networks for Population Scale Clustering and Bio-Ancestry Inferencing2020 IEEE Transactions on Computational Biology and Bioinformatics article Biochemistry, Genetics and Molecular Biology Forensic and Genetic Research Open access
Md. Rezaul Karim, Michael Cochez, Achille Zappa, Ratnesh Sahay, Oya Beyan, Stefan Decker
16citations -
Industrial applications of a modular software architecture for line-less assembly systems based on interoperable digital twins2023 Frontiers in Mechanical Engineering article Engineering Flexible and Reconfigurable Manufacturing Systems Open access
Julius B. Mathews, Jonas Rachner, Lea Kaven, Dennis Grunert, Amon Göppert, Robert Heinrich Schmitt
10citations