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Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders2022 Frontiers in Molecular Biosciences article Medicine Epilepsy research and treatment Open access
Florian P. Fischer, Ameya Sanjay Kasture, Thomas Hummel, Sonja Sučić
40citations -
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features2020 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Joost Brinks, Jacoline ten Brink, Ralph J. Florijn, +4 more
40citations -
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries2021 Circulation Research article Biochemistry, Genetics and Molecular Biology Congenital heart defects research Open access
Doris Škorić‐Milosavljević, Rafik Tadros, Fernanda M. Bosada, Federico Tessadori, Jan Hendrik van Weerd, Odilia I. Woudstra, +74 more
40citations -
High-performance ZrNiSn-based half-Heusler thermoelectrics with hierarchical architectures enabled by reactive sintering2025 Nature Communications article Materials Science Advanced Thermoelectric Materials and Devices Open access
Xin Ai, Yu Wu, Haiyan Lyu, Lars Giebeler, Wenhua Xue, A. V. Sotnikov, +7 more
39citations -
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia2021 Nature Communications article Biochemistry, Genetics and Molecular Biology RNA and protein synthesis mechanisms Open access
Samoil Sekulovski, Pascal Devant, Silvia Panizza, Tasos Gogakos, Anda Pitiriciu, Katharina Heitmeier, +8 more
39citations -
Thermal stability and coalescence dynamics of exsolved metal nanoparticles at charged perovskite surfaces2024 Nature Communications article Materials Science Advancements in Solid Oxide Fuel Cells Open access
Moritz Lukas Weber, Dylan Jennings, Sarah Fearn, Andrea Cavallaro, Alexander Gutsche, Lisa Heymann, +13 more
39citations -
Identifying Ionic and Electronic Charge Transfer at Oxide Heterointerfaces2020 Advanced Materials article Materials Science Electronic and Structural Properties of Oxides Open access
Marc‐André Rose, Břetislav Šmíd, Mykhailo Vorokhta, Ivetta Slipukhina, Michael Andrä, Hendrik Bluhm, +6 more
37citations -
RAD51 as a functional biomarker for homologous recombination deficiency in cancer: a promising addition to the HRD toolbox?2021 Expert Review of Molecular Diagnostics article Medicine PARP inhibition in cancer therapy Open access cited by 1 patent
Lise M. van Wijk, Andreea B. Nilas, Harry Vrieling, Maaike P.G. Vreeswijk
37citations -
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders2022 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Deborah Mackay, Jet Bliek, Masayo Kagami, Jair Antonio Tenorio, Arrate Pereda, Frédéric Brioude, +23 more
36citations -
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Federico Tessadori, Karen J. Duran, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, +57 more
36citations -
Optical process monitoring in Laser Powder Bed Fusion using a recoater-based line camera2021 Additive manufacturing article Engineering Additive Manufacturing Materials and Processes Open access
Felix Gabriel Fischer, Niklas Birk, Leroy Rooney, Lucas Jauer, Johannes Henrich Schleifenbaum
35citations -
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children2020 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Tomáš Kalina, Marina Bakardjieva, Maartje Blom, Martín Pérez‐Andrés, Barbara H. Barendregt, Veronika Kanderová, +18 more
35citations -
PHF2 regulates homology-directed DNA repair by controlling the resection of DNA double strand breaks2020 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Ignacio Alonso‐de Vega, Maria Cristina Paz‐Cabrera, Magdalena B. Rother, Wouter W. Wiegant, Cintia Checa-Rodríguez, Juan Ramon Hernandez-Fernaud, +4 more
35citations -
Helicase Q promotes homology-driven DNA double-strand break repair and prevents tandem duplications2021 Nature Communications article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access cited by 1 patent
Juliette A. Kamp, Bennie B. L. G. Lemmens, Ron J Romeijn, S. C. Changoer, Robin van Schendel, Marcel Tijsterman
35citations -
Establishing diagnostic criteria and treatment of subsegmental pulmonary embolism: A Delphi analysis of experts2020 Research and Practice in Thrombosis and Haemostasis article Medicine Venous Thromboembolism Diagnosis and Management Open access
Paul L. den Exter, Lucia J.M. Kroft, Carol Gonsalves, Grégoire Le Gal, Cornelia M. Schaefer-Prokop, Marc Carrier, +2 more
34citations -
Twisting of the zebrafish heart tube during cardiac looping is a tbx5-dependent and tissue-intrinsic process2021 eLife article Biochemistry, Genetics and Molecular Biology Congenital heart defects research Open access
Federico Tessadori, Erika Tsingos, Enrico Sandro Colizzi, Fabian Kruse, Susanne van den Brink, Malou van den Boogaard, +3 more
34citations -
A Novel 3D‐Printed Bi‐Layer Cranial‐Brain Patch Promotes Brain Injury Repair and Bone Tissue Regeneration2024 Advanced Functional Materials article Medicine Traumatic Brain Injury and Neurovascular Disturbances
Liming Zhou, Huiling Liu, Borui Zhang, Chengxiu Wei, Shihao Zhou, Xiao-ying Huang, +7 more
34citations -
Plasma Spray vs. Electrochemical Deposition: Toward a Better Osteogenic Effect of Hydroxyapatite Coatings on 3D-Printed Titanium Scaffolds2021 Frontiers in Bioengineering and Biotechnology article Engineering Bone Tissue Engineering Materials Open access
Xing Zhang, Mingran Luo, Weifan Hu, Li Wu Zheng, Ru‐Qi Huang, Johannes Greven, +2 more
34citations