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Minigene‐based splicing analysis and ACMG / AMP ‐based tentative classification of 56 ATM variants2022 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Elena Bueno Martínez, Lara Sanoguera‐Miralles, Alberto Valenzuela‐Palomo, Ada Esteban‐Sánchez, Víctor Lorca, Inés Llinares‐Burguet, +9 more
23citations -
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Heather Ferrao, Herma van der Linde, Evita Karelioti, +11 more
6citations -
Demonstration of Ultrasensitive KIDs for Future THz Space Borne Polarimeters2025 IEEE Transactions on Terahertz Science and Technology article Physics and Astronomy Superconducting and THz Device Technology Open access
S. J. C. Yates, Alejandro Pascual Laguna, Willem Jellema, Edgar Castillo-Domínguez, L. Ferrari, Bram Lap, +5 more
1citations -
On the Design of Wide Band Multi-lens Focal Plane Arrays for the TIFUUN Instrument2023 International Conference on Infrared, Millimeter, and Terahertz Waves (IRMMW-THz) conference-paper Physics and Astronomy Superconducting and THz Device Technology Open access
Alexandra P. Mavropoulou, Shahab O. Dabironezare, J. J. A. Baselmans, Akira Endo
0citations