Publications

Our publications, presentations and research grants

Leader in genetic testing with >25 years of experience in counselling and diagnostics

Comprehensive CE-IVD kit portfolio and seamless Technology Transfer solution for laboratories of any size

End-to-end clinical workflow from sample processing to sequencing analysis and reporting

CAP- accredited, GMP- and ISO9001, 15189 and 13485 certified

At Medicover Genetics, we continuously strive to discover new ways to develop and improve the diagnostic journey of patients and people undergoing genetic testing. Our growing R&D team has a strong publication track record in the field of in vitro genetic testing describing our innovative scientific work and technological advances.

We regularly present our work at international scientific conferences demonstrating our leadership in the field of genetic testing. Our work is further supported by multiple research grants awarded for the development technologies behind our genetic testing products.

Publications

von Ostrowski T, Axt-Fliedner R, Becker W-H, Czugalinski M,· Frenz J-P, Frenzel J, Rißmann A, Scharf-Jahns A, Stumm M, Schwerdtfeger R, Völlmecke B, Rüping U. “Inanspruchnahme nichtinvasiver Pränataltests (NIPT) als Kassenleistung in der Schwangerenvorsorge.” Gynäkologie 59, 196–202 (2026). doi.org/10.1007/s00129-026-05468-w
Horndalsveen H, Haakensen VD, Madebo T, Grønberg BH, Halvorsen TO, Koivunen J, Oselin K, Cicenas S, Helbekkmo N, Aanerud M, Ahvonen J, Silvoniemi M, Bjaanæs MM, Farooqi S, Nebdal D, Dalsgaard AM, Danielsen BK, Børve M, Dalen TS, Öjlert ÅK and Helland Å (2025) Blood-based tumor mutational burden as a biomarker in unresectable non-small cell lung cancer treated with chemoradiotherapy and durvalumab. Front. Oncol. 15:1681420. doi: 10.3389/fonc.2025.1681420

Horndalsveen, H., Haakensen, V. D., Madebo, T., Gronberg, B. H., Halvorsen, T. O., Koivunen, J., Oselin, K., Cicenas, S., Helbekkmo, N., Aanerud, M., Ahvonen, J., Silvoniemi, M., Bjaanæs, M. M., Danielsen, B. K., Børve, M., Dalen, T. S., Öjlert, Å. K., & Helland, A. (2025). “ctDNA-based MRD detection in unresectable NSCLC undergoing curatively intended chemoradiotherapy and durvalumab.” Journal of Clinical Oncology, 43(16_suppl), 8011. https://doi.org/10.1200/jco.2025.43.16_suppl.8011

Gabriel H, Stumm M. “Opportunities and Limitations of Modern High Throughput Sequencing in Invasive Prenatal Diagnostics.” Geburtsh Frauenheilk, March 2025, DOI 10.1055/a-2567-3396

J. Sgouros, A. Eliades, K. Papadopoulou, N. Korfiatis, D. Papamichael, E. Fountzilas, E. Tsolaki, A. Achilleos, K. Tsangaras, C. Loizides, G. Oikonomopoulos, T. Makatsoris, E. Kypri, M. Ioannides, G. Koumbaris, G. Fountzilas, P.C. Patsalis, G. Pentheroudakis. “Anti-EGFR re-challenge with chemotherapy in RAS wild-type advanced colorectal cancer (A-REPEAT study): efficacy and correlations with tissue and plasma genotyping.” ESMO Gastrointestinal Oncology, March 2025, Volume 7, 100120

Dressler-Steinbach I, Kinzel M, Janke H, Wimmer R, Weichert A, Chaoui R, Garten L, Weber A, Verlohren S, Henrich W, Stumm M. “Trisomy 18 mosaicism – are we able to predict postnatal outcome by analysing the tissue-specific distribution?” Journal of Perinatal Medicine 2025 Feb 14. doi: 10.1515/jpm-2024-0543. Online ahead of print. PMID: 39946316

PD Dr Markus Stumm “Advances in Screening for Genetic Abnormalities with Non-invasive Prenatal Testing” Scientia Feb 12, 2025, doi.org/10.33548/SCIENTIA1174
Drejeriene I, Gruode J, Cicenas S, Loizides C, Eliades A, Achilleos A, Kypri E, Tsangaras K, Ioannides M, Koumbaris G, Stanciute D, Krasauskas A, Patsalis PC. “Comparison of targeted next generation sequencing assays in non-small cell lung cancer patients.” Discover Oncology 2024 Dec 18;15(1):757. doi: 10.1007/s12672-024-01640-7. PMID: 39692940; PMCID: PMC11655926.

Ostrowski, T. von, Stumm, M., Naumann, G., Schwerdtfeger, R., Axt-Fliedner, R., Frenzel, J. & Scharf-Jahns, A. “Inanspruchnahme von NIPT als gesetzliche Kassenleistung in der Schwangerenvorsorge.” Frauenarzt 7/2024.

PD Dr. rer. nat. Markus Stumm, Rainer Wimmer, Melanie Isau. “Genetische Untersuchungen in der Pränataldiagnostik – Welche Diagnostik für welche Fehlbildung?” Die Gynäkologie | Ausgabe 6/2024
Fountzilas Elena et al. “Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.” International Journal of Molecular Sciences vol. 24, 11834. 23 July 2023

Abul H. Elahi et al. “Targeted pharmacologic inhibition of S-phase kinase-associated protein 2 (SKP2) mediated cell cycle regulation in lung and other RB-Related cancers: A brief review of current status and future prospects.” Advancements in Biological Regulation vol. 88, 100964. 23 May 2023

Li, Y., Dinkel, H., Pakalniskyte, D., Busley, A. V., Cyganek, L., Zhong, R., Zhang, F., Xu, Q., Maywald, L., Aweimer, A., Huang, M., Liao, Z., Meng, Z., Yan, C., Prädel, T., Rose, L., Moscu-Gregor, A., Hohn, A., Yang, Z., Qiao, L., … El-Battrawy, I. “Novel insights in the pathomechanism of Brugada syndrome and fever-related type 1 ECG changes in a preclinical study using human-induced pluripotent stem cell-derived cardiomyocytes.” Clinical and Translational Medicine 13(3), e1130. March 2023

Kampmeier A, Leitão E, Parenti I, … , Heinrich U, Rost I, et al. “PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.” Frontiers in Cell and Developmental Biology vol. 10 1020609. 16 Jan. 2023, doi:10.3389/fcell.2022.1020609
Romanidou, Ourania et al. “Molecular profile and clinical features of patients with gliomas using a broad targeted next generation-sequencing panel.” Oncology letters vol. 25,1 38. 8 Dec. 2022

Souche E, Beltran S, Brosens E, … Dincer Y, Eck SH, et al. “Recommendations for whole genome sequencing in diagnostics for rare diseases.” European journal of human genetics EJHG vol. 30,9: 1017-1021, Sep. 2022, doi:10.1038/s41431-022-01113-x

Kypri, Elena, Ioannides, Marios, Achilleos, Achilleas, Koumbaris, George, Patsalis, Philippos and Stumm, Markus. “Non-invasive prenatal screening tests – update 2022” Journal of Laboratory Medicine, vol. 46, no. 4, 2022, pp. 311-320.

Himmelreich N, Dimitrov B, Zielonka M, Hüllen A, Hoffmann GF, Juenger H, Müller H, Lorenz I, Busse B, Marschall C, Schlüter G, Thiel C. “Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.” Molecular Genetics and Metabolism vol. 136,4 (2022): 274-281, doi:10.1016/j.ymgme.2022.06.005

Weber A, Liehr T, Al-Rikabi A, Bilgen S, Heinrich U, Schiller J, Stumm M. “The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes.” Biomedicines 10,5 1102. 10 May. 2022, doi:10.3390/biomedicines10051102

Kyrochristos, Ioannis D et al. “Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.” Frontiers in oncology vol. 12 855463. 23 Mar. 2022 doi:10.3389/fonc.2022.855463

Westphal DS, Pollmann K, Marschall C, Wacker-Gussmann A, Oberhoffer-Fritz R, Laugwitz KL, Ewert P, Wolf CM. “It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.” Journal of Cardiovascular Development and Disease 9(2):41. 25 Jan. 2022, doi:10.3390/jcdd9020041

Wimmer R, Neumann U, Weber A, Isau M, Renner-Luetzkendorf H, Zschieschang P, Wachter O, Hirv K, Stumm M. “Intersexual Twins due to Tetragametic Chimerism.” Cytogenetic and Genome Research vol. 162,7 (2022): 378-385. doi:10.1159/000528737
Maier F, Frühwald M, Heinrich U, Schimmel M, Wahl D, Eggermann T. “Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay.” Clinical Dysmorphology vol. 30,4: 189-193, 01 Oct. 2021, doi:10.1097/MCD.0000000000000378

Mentzel J, Wetzig T, Rütten A, Hörtnagel K, Tischkowitz M, Ziemer M. “Sweat duct proliferation associated with aggregation of elastic tissue and atrophodermia vermiculata: a simulator of microcystic adnexal carcinoma – a family with MALTA-syndrome.” Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG vol. 19,7 (2021): 1052-1056, doi:10.1111/ddg.14416

Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O’Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, et al. “Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.” Human Mutation vol. 42,6 (2021): 762-776. doi:10.1002/humu.24206

Chrysostomou, Andreas C et al. “A Comprehensive Molecular Epidemiological Analysis of SARS-CoV-2 Infection in Cyprus from April 2020 to January 2021: Evidence of a Highly Polyphyletic and Evolving Epidemic.” Viruses vol. 13,6 1098. 9 Jun. 2021, doi:10.3390/v13061098

Zech M, Boesch S, Škorvánek M, Necpál J, Švantnerová J, Wagner M, Dincer Y, et al. “Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.” Parkinsonism & Related Disorders vol. 84 (2021): 129-134. doi:10.1016/j.parkreldis.2021.02.013

Fountzilas, Elena et al. “Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.” Cancers vol. 13,2 198. 8 Jan. 2021, doi:10.3390/cancers13020198
Ioannides, Marios et al. “Development of a new methylation-based fetal fraction estimation assay using multiplex ddPCR.” Molecular genetics & genomic medicine vol. 8,2 (2020): e1094. doi:10.1002/mgg3.1094
Koumbaris, George et al. “Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.” Molecular cytogenetics vol. 12 48. 21 Nov. 2019, doi:10.1186/s13039-019-0459-8

Kypri, Elena et al. “Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test.” Molecular cytogenetics vol. 12 34. 15 Jul. 2019, doi:10.1186/s13039-019-0446-0
Keravnou, Anna et al. “MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.” PloS one vol. 13,6 e0199010. 11 Jun. 2018, doi:10.1371/journal.pone.0199010
Neofytou, Maria C et al. “Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.” PloS one vol. 12,2 e0171319. 3 Feb. 2017, doi:10.1371/journal.pone.0171319
Keravnou, Anna et al. “Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions.” Genetics research vol. 98 e15. 11 Nov. 2016, doi:10.1017/S0016672316000136

Koumbaris, George et al. “Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.” Clinical chemistry vol. 62,6 (2016): 848-55. doi:10.1373/clinchem.2015.252502
Ioannides, Marios et al. “Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS.” Molecular cytogenetics vol. 7,1 73. 1 Nov. 2014, doi:10.1186/s13039-014-0073-8

Papageorgiou, Elisavet A et al. “The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis.” Genes vol. 5,2 310-29. 9 Apr. 2014, doi:10.3390/genes5020310

Antoniou, Pavlos et al. “Identifying differentially methylated regions by efficient bit-masking of DNA microarrays to use as markers for non invasive prenatal diagnosis.” Engineering Intelligent Systems. 22. 109-117. 2014.
Kyriakou, Skevi et al. “Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.” Prenatal diagnosis vol. 33,7 (2013): 650-5. doi:10.1002/pd.4140

Papageorgiou, Elisavet A et al. “Author’s response regarding “MeDIP-qPCR approach for non-invasive prenatal diagnosis of Down syndrome: accuracy and reproducibility”.” Prenatal diagnosis vol. 33,4 (2013): 404-5. doi:10.1002/pd.4048

Papageorgiou, Elisavet A, and Patsalis, Philippos C. “Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery.” BMC medicine vol. 11 56. 27 Feb. 2013, doi:10.1186/1741-7015-11-56
Patsalis, Philippos C. “Reply to: Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis”. Nat Med 18, 1328–1329 (2012). https://doi.org/10.1038/nm.2914

Patsalis, Philippos C and Papageorgiou, Elisavet A. “Non-Invasive Prenatal Diagnosis (NIPD) of Down Syndrome using real time qPCR.” ECA Newsletter, July 2012.

Velissariou, Voula and Patsalis, Philippos C. “The Future of Prenatal Diagnosis of Genetic Diseases of the Embryo: Non-Invasive Prenatal Diagnosis in free DNA of the Pregnant Woman.” Medical Analects, July-September 15:713-717, 2012.

Patsalis, Philippos C. “A new method for non-invasive prenatal diagnosis of Down syndrome using MeDIP real time qPCR.” Applied & translational genomics vol. 1 3-8. 26 May. 2012, doi:10.1016/j.atg.2012.04.001

Tsaliki, Evdokia et al. “MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21.” Prenatal diagnosis vol. 32,10 (2012): 996-1001. doi:10.1002/pd.3947

Papageorgiou, Elisavet A, and Philippos C Patsalis. “Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications.” Genome medicine vol. 4,5 46. 28 May. 2012, doi:10.1186/gm345

Patsalis, Philippos C et al. “A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR.” Expert opinion on biological therapy vol. 12 Suppl 1 (2012): S155-61. doi:10.1517/14712598.2012.674108
Koumbaris, George et al. “FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.” Human molecular genetics vol. 20,10 (2011): 1925-36. doi:10.1093/hmg/ddr074

Papageorgiou, Elisavet A et al. “Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.” Nature medicine vol. 17,4 (2011): 510-3. doi:10.1038/nm.2312

Presentations

PD Dr. Markus Stumm. “Genetische Analysen in der Reproduktionsmedizin – Welche Diagnostik für welche Fragestellung?” DGRM ÄRE-Treffen 2026, Weimar, Germany, 20-21 March 2026.

Dr. Vasiliki Chini. “Prevalence of chromosomal loci with incomplete penetrance and variable expressivity detected through prenatal and postnatal microarray analysis” 6th Panhellenic Conference of the Association of Medical Geneticists of Greece, Athens, Greece, 15 March 2026.
PD Dr. Markus Stumm. “Genetische Aspekte von ZNS-Fehlbildungen und Nierenerkrankungen” Perinatalkonferenz Potsdam, 25 February 2026.

PD Dr. Markus Stumm. “Genetische Risisken bei Schwangerschaften nach assitierter Reproduktion – Was ist zu beachten?” 21. Berliner Symposium Genetik und Schwangerschaft (GENUSS 2026), 21 February 2026.

Dr. Stefan Börno. “Genetische Fertilitätsdiagnostik 2026 – Was ist möglich” 21. Berliner Symposium Genetik und Schwangerschaft (GENUSS 2026), 21 February 2026.

Dr. Melanie Isau. “Hochdurchsatzsequenzierungen in der Pränataldiagnostik – Möglichkeiten und Grenzen” 21. Berliner Symposium Genetik und Schwangerschaft (GENUSS 2026), 21 February 2026.

Dr. Miriam Kinzel. “Sinn und Zweck des präkonzeptionellen Heterozygotenscreenings – Fallbeispiele” 21. Berliner Symposium Genetik und Schwangerschaft (GENUSS 2026), 21 February 2026.

Dr. rer. Nat. Stefan Mehrle. “Scalable Technology Transfer Platform to Accelerate Local Genomic Testing” WHX Labs 2026, Dubai, 12 February 2026.
Dr. Voula Velissariou. Advantages of targeted prenatal screening for fetal chromosomal abnormalities using NIPT” 23rd Panhellenic Perinatal Medicine Congress, Athens, 31 October-2 November 2025.

Henrik Horndalsveen (Oslo, Norway) Vilde D. Haakensen (Oslo, Norway) Tesfaye Madebo (Stavanger, Norway) Bjorn H. Gronberg (Trondheim, Norway) Tarje O. Halvorsen (Trondheim, Norway) Jussi P. Koivunen (Oulu, Finland) Kersti Oselin (Tallinn, Estonia) Saulius Cicenas (Vilnius, Lithuania) Nina Helbekkmo (Tromso, Norway) Marianne Aanerud (Bergen, Norway) Jarkko Ahvonen (Tampere, Finland) Maria Silvoniemi (Turku, Finland) Maria M. Bjaanaes (Oslo, Norway) Britina K. Danielsen (Oslo, Norway) Mari Børve (Oslo, Norway) Åsa K. Öjlert (Oslo, Norway) Aaslaug Helland (Oslo, Norway). “ctDNA-based detection of minimal residual disease in patients with unresectable NSCLC treated with chemoradiotherapy and durvalumab.” Poster ESMO Conference 2025, Berlin, Germany, 17-21 October 2025.

PD Dr. Markus Stumm. “Genetische Diagnostik bei kogenitalen Bauchwanddefekten und Herzfehlern.” Perinatalkonferenz Potsdam, 3 September 2025.

PD Dr. Markus Stumm. “NIPT ohne Grenzen – Was ist möglich?” 12. Deutsch-Östereichisches Symposium Pränataldiagnostik, Berchtesgaden, Germany, 4-5 July 2025.

PD Dr. Markus Stumm. “Update Genetik.” Medicover GO4GYN, Berlin, Germany, 14 June 2025.

Tobias Roth. “CMV-Typisierung aus SHT im Rahmen der HSCT.” HLA Workshop 2025, Idar-Oberstein, Germany, 5-6 June 2025.

Aslaug Helland, MD, PhD. “ctDNA-based MRD detection in unresectable NSCLC undergoing curatively intended chemoradiotherapy and durvalumab.” ASCO Annual Meeting 2025, Chicago, USA, Germany, 30 May-3 June 2025.

Kerstin Kornelson, Melanie Isau, Rainer Wimmer, Markus Stumm. “Whole exome sequencing enables the diagnosis of genetic syndromes in fetuses with nonspecific ultrasound abnormalities.” ESHG Conference 2025, Milan, Italy, 24-27 May 2025.

Dr. rer. Nat. Stefan Mehrle, Demetra Panayiotou, John Baeten PhD, Ileana-Delia Sabau, MD Specialist Medical Genetics. “Scalable Technology Platform for Genetic Testing: CE-marked and IVDR Solutions with Optimized Workflows to Maximize Efficiency.” Corporate Satellite of Medicover Genetics at ESHG 2025, Milan, Italy, 24-27 May 2025.

Skevi Kyriakou, PhD. “Clinical Research Excellence: Medicover’s Validation of VERACITY NIPT and TarCET Assays on the AVITI Platform.” Corporate Satellite of Medicover Genetics at ESHG 2025, Milan, Italy, 24-27 May 2025.

Kerstin Kornelson, Melanie Isau, Rainer Wimmer, Markus Stumm. “Whole exome sequencing enables the diagnosis of genetic syndromes in fetuses with nonspecific ultrasound abnormalities.” Poster number EP03.029, ESHG Conference 2025, Milan, Italy, 24-27 May 2025.

Anna-Lena Mayer, Sophie Stößlein, Mirjana Gusic, Dagmar Wahl. “Oral-facial-digital syndrome and RAB34: Uncovering a novel variant in a rare ciliopathy-associated malformation.” Poster number EP13.037, ESHG Conference 2025, Milan, Italy, 24-27 May 2025.Joseph Sgouros, Stephanie Constannou, Chrysa Soteriou, Alexia Eliades, Kyriaki Papadopoulou, Nikolaos Korfia, Demetris Papamichael, Elena Fountzila, Ele heria Tsolaki, Achilleas Achilleos, Kyriakos Tsangaras, Gaetan Billioud, Charalambos Loizides, George Oikonomopoulos, Thomas Makatsoris, George Koumbaris, George Fountzilas, Philippos C. Patsalis, George Pentheroudakis. “Liquid- and tissue-biopsy based genotyping for efficacy determination of anti-EGFR re-challenge in RAS wild-type advanced colorectal cancer (A-REPEAT Study).” Poster number P01.068.D, ESHG Conference 2025, Milan, Italy, 24-27 May 2025.

Mirjana Gusic, Moritz Hebebrand, André Weber, Miriam Kinzel, Markus Stumm, Oliver Wachter, Steffen Lott, Konstanze Hörtnagel. “Expansion of MAD1L1-associated phenotype: second case with chromosomal aneuploidy.” Poster number P10.052.A, ESHG Conference 2025, Milan, Italy, 24-27 May 2025.

Simona Jakovchevska, Mirjana Gusic, Anna Schossig , Konstanze Hörtnagel. “Mosaic KMT2D variant in Kabuki syndrome – importance of DNA methylation profiling in diagnostics .” Poster number P13.045.A, ESHG Conference 2025, Milan, Italy, 24-27 May 2025.

Skevi Kyriakou, Michaella Georgiadou, Lygia Ioannou, Styliana Philippou, Valando Soteriou, Louisa Constantinou, Ioanna Neophytou, Evie Touvana, Antonis Jossif, Paola Evangelidou, Carolina Sismani, Elena Kypri, Marios Ioannides, George Koumbaris and Philippos C. Patsalis. “Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study.” Poster number P15.165.D, ESHG Conference 2025, Milan, Italy, 24-27 May 2025.

Bettina Vignolo, Idriz Durmis, Barbara Bangol, Oliver Wachter, Konstanze Hörtnagel. “Sequencing of repeat expansions in molecular diagnostics: comparing hybridization-based and CRISPR-Cas9-based approaches.” Poster number P23.051.A, ESHG Conference 2025, Milan, Italy, 24-27 May 2025.

PD Dr. Markus Stumm. “Best Practice: Genetische Diagnostik bei habituellen Aborten – Was ist machbar, was ist sinnvoll?” Diagnosis related Health and Life Sciences Symposion 2025, Überlingen, Germany, 10 May 2025.

Moritz Hebebrand, André Weber, Mirjana Gusic, Konstanze Hörtnagel, Miriam Kinzel, Markus Stumm. “First male patient with MADL1 associated chromosomal aneuploidy.” Poster at 36. Jahrestagung der Deutschen Gesellschaft für Humangenetik. 2-4 April 2025, Innsbruck, Austria.

PD Dr. Markus Stumm. “Habituelle Aborte – Genetik.” Medicover GO4GYN Webinare, 26 February 2025.

PD Dr. Markus Stumm. “NIPT: Wie hat es angefangen und wie geht es weiter.” Medicover Symposium Genetik und Schwangerschaft 2025, 14 February 2025

Dr. Miriam Kinzel. “Herausfordernde genetische Beratungen im Kontext der Pränataldiagnostik.” Medicover Genetics Symposium Genetik und Schwangerschaft 2025, 22 February 2025.

Dr. Melanie Isau. “Medicover Carreir-Screening: Familienplanung und Genetik – Status 2025.” Medicover Genetics Symposium Genetik und Schwangerschaft 2025, 22 February 2025.

Demetra Panayiotou, Elpida Constantinou, Eleni Souroula, Leslie Mabaleka. “Driving Innovation in Genetic Diagnostics with Medicover Genetics Tech Transfer Platform and Multidisciplinary Assays.” Medlab Middle East Conference 2025, Dubai, 3-6 February 2025.

Demetra Panayiotou, Elpida Constantinou, Eleni Souroula, Leslie Mabaleka. “Optimizing Diagnostic Solutions to Enhance the Reproductive Health Journey.” Medlab Middle East Conference 2025, Dubai, 3-6 February 2025.

Demetra Panayiotou, Elpida Constantinou, Eleni Souroula, Leslie Mabaleka. “Unlocking the Genomic Landscape of Cancer: A Comprehensive Portfolio to Empower Precision Medicine.” Medlab Middle East Conference 2025, Dubai, 3-6 February 2025.

PD Dr. Markus Stumm. “Genetische Analysen in der klinischen Diagnostik – Welche Methoden für welche Fragestellung.” Department of Gynecology, University Innsbruck, 13 January 2025.
PD Dr. Markus Stumm. “NIPT in der humangenetischen Praxis.” Best Practice ersttrimester Diagnostik und Update NIPT 2024, 12 October 2024. Dortmund, Germany.

PD Dr. Markus Stumm. “Humangenetik unplugged”-Genetische Diagnostik in der Pränataldiagnostik.” 11. Deutsch-Östereichisches Symposium Pränataldiagnostik, 5-6 July 2024, Berchtesgaden, Germany.

PD Dr. Markus Stumm. “Genetische Diagnostik in der gynäkologischen Praxis.” Medicover – GO4GYN, 22 June 2024, Berlin, Germany.

Melanie Isau, Konstanze Hörtnagel, Elisabeth Gödde, Markus Stumm. “Medicover Carrier Screening–Family Planning And Genetics.” Poster at European Human Genetics Conference 2024, 1-4 June 2024, Berlin, Germany.

Julia Flunkert, Rainer Wimme , Markus Stumm. “Optical Genome Mapping For Comprehensive Genomic Rearrangement Analysis.” Poster at European Human Genetics Conference 2024, 1-4 June 2024, Berlin, Germany.

Rainer Wimmer, Miriam Kinzel , Iris Dressler Steinbach, Holger Janke , André Weber, Markus Stumm. “Tissue Specific Aneuploidy In Mosaic Trisomy 18: Prenatal And Postnatal Insights.” Poster at European Human Genetics Conference 2024, 1-4 June 2024, Berlin, Germany.

Michaela Blankenburg, Oriane Vedrines, Markus Stumm, “Significance Of The Sperm Dna Fragmentation Index (Dfi) For Male Fertility Diagnostics – Results From More Than 800 Cases.” Poster at European Human Genetics Conference 2024, 1-4 June 2024, Berlin, Germany.

PD Dr. Markus Stumm. “Diagnostische Validierungsanalysen nach auffälligem NIPT – Was können wir daraus lernen.” Medicover – 19. Symposium Genetik und Schwangerschaft 2024, 9 March 2024, Berlin, Germany.

Dr. Rainer Wimmer. “Genetische Untersuchungen in der Pränataldiagnostik – Welche Diagnostik für welche Fehlbildung.” Medicover – 19. Symposium Genetik und Schwangerschaft 2024, 9 March 2024, Berlin, Germany.

Dr. Melanie Isau. “Carrier-Screening – Die Medicover Strategie.” Medicover – 19. Symposium Genetik und Schwangerschaft 2024, 9 March 2024, Berlin, Germany.

Dr. Julia Flunkert. “Optical Genomic Mapping in der Reproduktionsgenetik – Erste Erfahrungen.” Medicover – 19. Symposium Genetik und Schwangerschaft 2024, 9 March 2024, Berlin, Germany.

PD Dr. Markus Stumm. “Diagnostische Validierungsanalysen nach auffälligem NIPT – Was können wir daraus lernen.” Diagnosis Related Health and Life Sciences Symposion 2024, 02 March 2024, Überlingen, Germany.
Tobias Roth “AB0 und RHD genotyping by Next Generation Sequencing in an initial blood stem cell donor registry typing.” 30. Jahrestagung der Deutschen Gesellschaft für Immungenetik (DGI), 11-13 October 2023, Halle/Saale, Germany.

PD Dr. Markus Stumm, Udo Köhler. “Oxford Debatte zum Thema “Nicht invasive Präimplantationsdiagnostik.” 10.DVR Kongress, 20-22 September 2023, Bonn, Germany.

PD Dr. Markus Stumm. “Diagnostische Validierungsanalysen nach auffälligem NIPT – was können wir daraus lernen.” 10. Deutsch-Östereichisches Symposium Pränataldiagnostik, 07-08 July 2023, Berchtesgaden, Germany.

PD Dr. Markus Stumm. “Diagnostic validation analyses after abnormal NIPT – What can we learn from it?” European Human Genetics Conference 2023 – Medicover Satellite, 10-13 June 2023, Glasgow, UK.

Dr. Melanie Isau. “Comparison of Bionano optical genome mapping with conventional cytogenetic tests -region specific analyses.” Medicover – Zytogenomik Workshop, 13 May 2023, Berlin, Germany.

Dr. Julia Flunkert. “Optische Genomkartierung: Diagnostikoptionen.” Medicover – Zytogenomik Workshop, 13 May 2023, Berlin, Germany.

PD Dr. Markus Stumm. “Strukturvarianten und Diagnostikoptionen.” Medicover – Zytogenomik Workshop, 13 May 2023, Berlin, Germany.

Michaela Blankenburg, Julia Flunkert, Oriane Vedrines, Markus Stumm. “Comparison of Bionano optical genome mapping with conventional cytogenetic tests -region specific analyses.” 34. Jahrestagung der Deutschen Gesellschaft für Humangenetik, 15-17 March 2023, Kassel, Germany.

PD Dr. Markus Stumm. “Aktuelle Diagnostikalgorithmen in der Reproduktionsgenetik und Pränatalmedizin.” Medicover – 18. Symposium Genetik und Schwangerschaft Digital 2023, 01 March 2023, Berlin, Germany.

PD Dr. Markus Stumm. “Pränatale Diagnostik 2023, vom Chromosom zum Genom.” 14. Fortbildungsveranstaltung in der Pränatalmedizin, 28 January 2023, Freiburg, Germany.

Dr. Miriam Kinzel. “NIPT und genetische Beratung: was dürfen die Gynäkologen.” Fortbildung NIPT in der Praxis – Alles was man wissen muss, 18 January 2023, Berlin, Germany.

PD Dr. Markus Stumm. “NIPT in der Pränataldiagnostik: Möglichkeiten und Grenzen.” Fortbildung NIPT in der Praxis – Alles was man wissen muss, 18 January 2023, Berlin, Germany.
“Medicover Healthcare”, 1st Hospital Services Conference, Medicover, 14-15 October 2022, Torun, Poland.

“A new generation genetic testing technology platform for NIPT, Liquid biopsy and beyond”, Genetics 2022. Developments and applications in Medicine, 21st May 2022, Athens, Greece.
“Vision for Life Sciences and Biotechnology for a Healthy and Sustainable EU”, The 2nd Hellenic Biocluster Forum, 4 – 5 November 2021, Athens, Greece.
“Prenatal Testing: More, Better, Safe, Effective, For All”, 19th Annual Laboratory Management and Medicine Congress, 3-6 February 2020, Dubai, United Arab Emirates.
“New Advancements in NIPT for Prenatal Screening of Genetic Diseases”, 2nd Arab Association of Genetic Research Conference, 26-27 November 2019, Cairo, Egypt.

“A new generation technology for genetic testing in preconception, prenatal, postnatal and oncology”, The 1st Congress on Women’s Health Innovations & Inventions, 9 – 11 July 2019, Tel Aviv, Israel.

“A single comprehensive NIPT for aneuploidies, microdeletions and point mutations”, 3rd Symposium on Clinical Genetics & Genomics & 19th Educational Seminar in Genetics, 31 May-1 June 2019, Athens, Greece.

“New Advancements in NIPT for prenatal screening of genetic diseases”, The 10th International Symposium on Diabetes, Hypertension, Metabolic Syndrome and Pregnancy, 29 May – 1 June 2019, Florence, Italy.

“New Generation Non-Invasive Genetic Testing for the Detection of Chromosomal Syndromes, Microdetion and Single Gene Diseases”, 4th Scientific Conference: “Prenatal Diagnosis and Treatment of Fetus”, 18 May 2019, Athens, Greece.

“Clinical utility of tissue and plasma DNA profiling of solid tumor cancer patients”, 2nd Conference “Genetic Innovations in 2019”, 7 February 2019, Kaunas, Lithuania.
“Liquid Biobsy”, Annual Conference of ISMPO (India Society of Medical & Paediatric Oncology) – ISMPOCON JAIPUR 2018, 16-18 November 2018.

’Genomics’, The omics & maternal-fetal – neonatal medicine from top research to the bed side; can we predict pregnancy complications? XXVI European Congress of the European Association of Perinatal Medicine, 5-8 September 2018, St. Petersburg, Russia.

“cfDNA: Single gene disorders”, 17th World Congress in Fetal Medicine, 24-28 June 2018, Athens, Greece.

“NIPT Beyond Aneuploidies”, Corporate Satellite Session during ESHG 2018 Conference, 17 June 2018, Milan, Italy.
“The Genome”. The 9th International Symposium on Diabetes, Hypertention, Metabolic Syndrome and Pregnancy, DIPAP2017, Barchelona, Spain, 8 March 2017, Invited Lecturer.

“Genetics, Material Fetal Medicine and the Great Obstretrical Syndromes”. The 9th International Symposium on Diabetes, Hypertention, Metabolic Syndrome and Pregnancy, DIPAP2017, Barchelona, Spain, 8 March 2017.

“A New Generation Non-invasive Prenatal Test for Genetics Disorders”. The First International Personalized Medicine Congress. Tehran, Iran. February 24-27, 2017.

“Circulating Tumour DNA as a Non-invasive Biomarker in Cancer”. Genetics in Oncology, University of Kaunas, Kaunas, Lithuania. February 1-3, 2017.
“Non Invasive Prenatal Testing of Genetic Disorders”. The 1st Asia-Pacific Symposium on Diabetes, Hypertention, Metabolic Syndrome and Pregnancy, DIPAP2016, Colombo, Sri Lanka, 8-10 September 2016.

“Genetics Meets Fetal and Perinatal Medicine”. The 1st Asia-Pacific Symposium on Diabetes, Hypertention, Metabolic Syndrome and Pregnancy, DIPAP2016, Colombo, Sri Lanka, 8-10 September 2016.

“Non Invasive Prenatal Diagnosis of Chromosomal Disorders”. 2nd International Conference of the Hellenic Society of Human Genetics, Athens, Greece. 4-6 November 2016, Invited Lecturer.

“Non Invasive Prenatal Diagnosis of Genomic Disorders”. 5th International Conference of the Cyprus Society of Human Genetics, Nicosia, Cyprus. 14-15 October 2016.

“When IVF meets NIPT: Another challenge to look at…”. Annual Meeting of the National Society of Obstetric and Gynegology, Tel Aviv, Israel. 8 March 2016.

“Multiplex Parallel Analysis of Targeted Genomic Regions for NIPT”. Molecular Diagnostic Europe, Lisbon, Portugal. 4-7 April 2016.

“New Generation Non-Invasive Prenatal Diagnosis with competitive advandages”, Eurogenetics Center, Thessaloniki, Greece, 25 April, 2016.

“NIPT: Present and Future”, Two Forum – EXPO Athens, Athens, Greece.

“Non-Invasive Prenatal Diagnosis using cffDNA”, Biomedical Center, Thessaloniki, Greece, 26 April, 2016.

“Non-Invasive Prenatal Diagnosis using cffDNA”, University of Ioannina, Greece, 29 June, 2016.

“Non-Invasive Prenatal Diagnosis of aneuploidies”, Biomedical Center, Athens, Greece,15 June, 2016.
“The Veracity Test. Advances in Fetal Medicine Course. London, UK, 5-7 December 2015.

“Development and Validation of the Veracity Non Invasive Prenatal Test., Advances in Prenatal Diagnosis. 16-19 November 2015. Boston, USA.

“Development and Validation of the Veracity: a non-invasive prenatal test”, Vilnious University, Lithuania, 7 November, 2015.

“Barriers and Drivers for the Implementation of Clinical Sequencing: An International Discussion Symposium”, American Society of Human Genetics Meeting, 6-10 October, 2015, Baltimore, USA. Invited Lecturer, Plenary Lecture.

“Development and Validation of the Veracity: a newly highly accurate and cost effective non-invasive prenatal test”, Advance course in Ultrasound and Fetal Medicine, 2-4 October 2015, Belfast, UK.

“Development and Validation of the Veracity: a non-invasive prenatal test”, Pan-Hellenic Perinatal Conference, 15-18 October 2015, Athens, Greece.

“DNA-based Non Invasive Prenatal Diagnosis for Down Syndrome”, World Medical Summit, 7-9 July 2015, Macau, China.
“Non Invasive Prenatal Diagnosis”, Lithuenian Academy of Science, Vilnious, Lithuenia, 16 December 2014.
“Non Invasive Prenatal Diagnosis of Genetic Diseases”. Femmes d’ Europe, Brussels, Belgium, 16 October 2013.

“Non Invasive Prenatal Diagnosis of Genetic Disorders”. BrainTrain EU Conference, Riken Institute, Yokahama, Japan, 19 September 2013.

“Development of a New Non-Invasive Prenatal Diagnostic Method using Peripheral Maternal Blood Sample”. 1st Conference of the Society of Medical Geneticists, 30 May to 1 June 2013, Greece, Athens.
“Non-Invasive Prenatal Diagnosis: From inception of the idea to the development of the product”. University of Ioannina School of Medicine, Ioannina, Greece.

“Non Invasive prenatal diagnosis”. 11th World Congress in Fetal Medicine, 24-28 June 2012, Kos, Greece.

“Further development and larger validation of non-invasive prenatal diagnosis for trisomy 21 using MeDIP real time qPCR”. European Society of Human Genetics 2012, 23-26 June 2012, Nurnberg, Germany.

“Non-Invasive Prenatal Diagnosis for Trisomy 21 using MeDIP real time qPCR”. 4th Slovene Medical Genetics Symposium – New technologies and approaches in medical genetic diagnostics, 6 April 2012, Ljubljana, Slovenia.

“Prenatal Diagnosis of Genetic Disorders: From Invasive to Non Invasive Prenatal Diagnosis”. International Down Syndrome Day, Hadassah Hospital, 22 March 2012, Jerusalem, Israel.

“Development and Commercial Exploitation of Non-Invasive Prenatal Diagnosis”. Advanced Technologies in Medicine, Conference in Innovation, University of Crete, 25 – 26 February 2012, Greece, Cyprus.
“Non-Invasive Prenatal Diagnosis of Down Syndrome”. 14th Conference of the Italian Society of Human Genetics (XIV SIGU), 13-16 Nov 2011, Milan, Italy.

“Non-Invasive Prenatal Diagnosis of Down Syndrome”. 7th International Conference on Circulating Nucleic Acids in Plasma and Serum (CNAPS VII), 24-25 Oct 2011, Madrid, Spain.

“Fetal-specific DNA methylation ratio permits non-invasive prenatal diagnosis of trisomy 21”. Cold Spring Harbor Laboratory: Personal Genomes, 30 Sept – 2 Oct 2011, New York, USA.

“From invasive to non-invasive prenatal diagnosis”. The 5th International Conference on Birth Defects and Disabilities in the Developing World, 24-27 September 2011, Lodz, Poland.

“Non-Invasive Prenatal Diagnosis of Down Syndrome”, Isida Clinic, 16 Sept 2011, Kiev, Ukraine.

“Development and Validation of Non-Invasive Prenatal Diagnosis for Trisomy 21”. 8th European Cytogenetics Conference, European Cytogenetic Association, 2-5 July, 2011, Porto, Portugal.

“Diagnosis of Aneuploides: Epigenetic Approach – Fetal-Specific DNA Methylation Ration Permits Non-Invasive Prenatal Diagnosis of Trisomy 21”. 10th Fetal Medicine World Congress, 26-30 June 2011, Malta.

“Development and Validation of Non-Invasive Prenatal Diagnosis of Trisomy 21”. European Genetics Conference, European Society of Human Genetics, 28-31 May, 2011, Amsterdam, Netherlands.

“Non-Invasive Prenatal Diagnosis of Down Syndrome”. University of Ioannina Medical School, 23 May, 2011, Ioannina, Greece.

“Non-Invasive Prenatal Diagnosis of Down Syndrome”. Annual Conference of UK Clinical Molecular Genetics Society and UK Association of Clinical Cytogenetics, 4-8 April, 2011, Durham, UK.
“Non-Invasive Prenatal Diagnosis of Down Syndrome”. MHTERA Hospital, 2-4 December 2010, Athens, Greece.

Grants

Development of a novel, Preimplantation Genetic Testing (PGT) Kit. Competitive grant by Research Promotion Foundation, Cyprus.
Accelerating the commercialization of non-invasive tests for liquid biopsy of solid tumor cancers (LIQ-BIOPSY). Competitive grant by Research Promotion Foundation, Cyprus.
Proof of Concept study for ERC NIPD discovered biomarkers (mR-NIPD). Competitive grant by European Research Council (ERC) Proof of Concept Grant, European Union.
A novel non-invasive prenatal diagnosis of genetic disorders (NIPD). Competitive grant by European Research Council (ERC) Advanced Investigator Grant, European Union.
A new genetic laboratory for non-invasive prenatal diagnosis (ANGELAB). Competitive grant by 7th Framework Programme (ICT), European Union.
Development and validation of a non-invasive prenatal diagnostic (NIPD) kit for aneuploidy detection (NIPD-KIT). Competitive grant by Eurostars Program, European Union and Cyprus Research Promotion Foundation.
Development of an innovative non-invasive prenatal diagnostic test (NIPD21). Competitive grant by Ministry of Energy, Commerce, Industry and Tourism, Cyprus.
Using fetal specific methylated markers for the development of non-invasive prenatal diagnosis for Down Syndrome. Competitive grant by Research Promotion Foundation (RPF) Young Researcher Award, Cyprus.
Methods and compositions for non-invasive prenatal diagnosis of fetal aneuploidies. Competitive grant by Research Promotion Foundation Innovation, Cyprus.
New Minimal Residual Disease Detection Liquid Biopsy Test (NeoMRD). Competitive grant by Research and Innovation Foundation, Cyprus (2022-2024).
Development of Non-Invasive Prenatal Testing (NIPT) for Fetal Whole Competitive grant by Research and Innovation Foundation, Cyprus (2021-2023).
Proof of Concept study for the development of methylation based NIPT for trisomy 21 using droplet digital PCR Competitive grant by European Research Council (ERC) Proof of Concept, European Union (2021-2022).

Get in touch with us

Our team of experts is here to support you at every stage.

Your role *

Please select the option that best describes you.

FIRST NAME *

Please enter your first name.

LAST NAME *

Please enter your last name.

PHONE

Providing your phone number is optional and helps us contact you more quickly if needed.

EMAIL ADDRESS *

Please enter a valid email address

Country *

Please provide your country of residence. This information is required to route your request to the appropriate sales representative based on your location.

ORGANISATION / INSTITUTION

Please enter your organisation / institution

MESSAGE / ADDITIONAL NOTES

Please do not enter sensitive health data or special categories of personal data here. If you need to share such information, please use a secure, separate communication channel, such as encrypted email, a protected patient portal or a confidential phone call.

Your data will be used solely for processing your inquiry. For more information on how we handle your personal data and your rights, please refer to our .

Certified laboratories

Why Medicover Genetics

Leader in genetic testing with >25 years of experience in counselling and diagnostics

Comprehensive CE-IVD kit portfolio and seamless Technology Transfer solution for laboratories of any size

End-to-end clinical workflow from sample processing to sequencing analysis and reporting

CAP- accredited, GMP- and ISO9001, 15189 and 13485 certified

Our global network

Our accredited genetic laboratories are part of the Medicover network, with global capabilities to support partnerships worldwide.

View locations