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The differential expression of MAGI2 in glomerulopathies and its application as a molecular discriminator of podocytopathies2025 Journal of Translational Medicine article Medicine Renal Diseases and Glomerulopathies Open access
Florian Siegerist, Eleonora Hay, Elke Hammer, Anna Iervolino, Juan Saydou Dikou, Eleni Stamellou, +12 more
4citations -
Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT) type 22020 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Marga J. Bouma, Valeria V. Orlova, Francijna E. van den Hil, Hans-Jurgen J. Mager, Frank F. Baas, Peter de Knijff, +3 more
9citations -
Generation of human induced pluripotent stem cell line EURACi006-A and its isogenic gene-corrected line EURACi006-A-1 from an arrhythmogenic cardiomyopathy patient carrying the c.1643delG PKP2 mutation2021 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Viviana Meraviglia, Sravya Ganesh, Christiaan H. Arendzen, Elena Sommariva, Alessandra Rossini, Milena Bellin
1citations -
Microphthalmia-Associated Transcription Factor: A Differentiation Marker in Uveal Melanoma2023 International Journal of Molecular Sciences article Medicine Ocular Oncology and Treatments Open access
Maria Chiara Gelmi, Robert M. Verdijk, Laurien E. Houtzagers, Pieter A. van der Velden, Wilma G. M. Kroes, Gregorius P. M. Luyten, +2 more
10citations -
P-426 Comprehensive study of the endometrial early/mid secretory phase during natural cycles reveals conserved molecular dynamics involved in the window of implantation2024 Human Reproduction conference-abstract Immunology and Microbiology Reproductive System and Pregnancy
Filippo Zambelli, Sara Pietroforte, Berta Gayete-Mor, Marta Trullenque, María Jesús López, M Corral Garrido, +4 more
0citations -
Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation2020 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Viviana Meraviglia, Christiaan H. Arendzen, Merve Tok, Angela Serena Maione, Elena Sommariva, Milena Bellin
10citations -
Secreted therapeutics: monitoring durability of microRNA-based gene therapies in the central nervous system2021 Brain Communications article Biochemistry, Genetics and Molecular Biology Extracellular vesicles in disease Open access cited by 1 patent
Marina Sogorb-González, Carlos Vendrell‐Tornero, Jolanda Snapper, Anouk Stam, Sonay Keskin, Jana Miniarikova, +7 more
6citations -
P-802 Unraveling a distinct role for GATA3 in mouse and human trophectoderm development via CRISPR/Cas9 gene editing2025 Human Reproduction conference-abstract Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Sofie Declercq, Gwenny Cosemans, Tijs Vanhessche, Dominic Stoop, Susana M. Chuva de Sousa Lopes, Kim De Leeneer, +2 more
0citations -
Deficiency of the Circadian Clock Gene Bmal1 Reduces Microglial Immunometabolism2020 Frontiers in Immunology article Neuroscience Neuroinflammation and Neurodegeneration Mechanisms Open access
Xiaolan Wang, Samantha E. C. Wolff, Nikita L. Korpel, Irina V. Milanova, Cristina Sandu, Patrick C.N. Rensen, +5 more
77citations -
Fine mapping of a powdery mildew resistance gene PmCWI16926 from cultivated emmer wheat2026 Communications Biology article Agricultural and Biological Sciences Wheat and Barley Genetics and Pathology Open access
Dongming Li, Fengtao Wang, Yuli Jin, Kai Wang, Nina Sun, Linzhi Li, +6 more
0citations -
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Stefanie H. Mueller, Alvina Grace Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, +91 more
15citations -
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression2024 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 2 patents
Chao-Jen Wong, Seth D. Friedman, Lauren D. Snider, Sean R. Bennett, Takako Iida Jones, Peter L. Jones, +10 more
21citations -
ABC signature in partial recombination activating gene (RAG) deficiency and chronic TLR stimulation 46622025 The Journal of Immunology article Immunology and Microbiology T-cell and B-cell Immunology Open access
Márta Tóth, Christopher D. Scharer, Mirjam van der Burg, Laszlo Tibor Nagy, Zsolt Czimmerer, Jolan Eszter Walter
0citations -
From gut to brain: effects of fecal microbiota transplants from humans to rats on hippocampal gene regulation - a study on anorexia nervosa2026 Translational Psychiatry article Biochemistry, Genetics and Molecular Biology Gut microbiota and health Open access
N. M. Korten, Larissa Blischke, Anna C. Thelen, Anna Schulze-Eckel, M van Egmond, Valerie Verspohl, +11 more
0citations -
ADAPTcycle: Adjuvant dynamic marker-adjusted personalized therapy (ADAPT) comparing endocrine therapy plus ribociclib versus chemotherapy in intermediate-risk HR+/HER2- early breast cancer (EBC).
Nadia Harbeck, Oleg Gluz, Matthias Christgen, Monika Graeser, Felix Hilpert, Katja Krauss, +11 more
18citations -
The SNP rs460089 in the gene promoter of the drug transporter OCTN1 has prognostic value for treatment-free remission in chronic myeloid leukemia patients treated with imatinib
Kateřina Machová Poláková, Ali Albeer, Václava Polívková, Monika Krutska, Katerina Vlcanova, Nikola Čuřík, +30 more
7citations -
Generation of two human induced pluripotent stem cell lines, LUMCi020-A and LUMCi021-A, from two patients with Catecholaminergic Polymorphic Ventricular Tachycardia carrying heterozygous mutations in the RYR2 gene2020 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Viviana Meraviglia, Christiaan H. Arendzen, Christian M.A.H. Freund, Douwe E. Atsma, Christine L. Mummery, Milena Bellin
2citations -
Generation of induced pluripotent stem cell lines from three Marfan syndrome patients carrying mutations in the fibrillin-1 gene2026 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Philipp Christoph Hauger, Tyler J. Kirby, Maarten Groenink, Herak Manjikian, Vivian de Waard, Peter Lodewijk Hordijk
1citations