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LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED2021 Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Bart Peter Leroy, David G. Birch, Jacque L. Duncan, Byron L. Lam, Robert K. Koenekoop, Fernanda Belga Ottoni Porto, +2 more
61citations -
Saturation genome editing of BAP1 functionally classifies somatic and germline variants2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrew J. Waters, Timothy Brendler-Spaeth, Danielle Smith, Victoria Offord, Hong Kee Tan, Yajie Zhao, +15 more
58citations -
Guidelines for mouse and human DC generation2022 European Journal of Immunology article Immunology and Microbiology Immunotherapy and Immune Responses Open access cited by 2 patents
Manfred Bernhard Lutz, Shafaqat Ali, Cindy Audiger, Stella E. Autenrieth, Luciana Berod, Venetia Bigley, +20 more
57citations -
European Society of Cardiology guidance for the diagnosis and management of cardiovascular disease during the COVID-19 pandemic: part 1—epidemiology, pathophysiology, and diagnosis
Colin Baigent, Stephan Windecker, Daniele Andreini, Elena Arbelo, Emanuele Barbato, Antonio Luca Bartorelli, +61 more
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Classifications of cutaneous lymphomas and lymphoproliferative disorders: An update from the EORTC cutaneous lymphoma histopathology group2024 Journal of the European Academy of Dermatology and Venereology article Medicine Cutaneous lymphoproliferative disorders research Open access
Werner Kempf, Christina Mitteldorf, Lorenzo Cerroni, Rein Willemze, Emilio Berti, Emmanuella Guenova, +2 more
57citations -
RNA sensing via the RIG‐I‐like receptor LGP2 is essential for the induction of a type I IFN response in ADAR1 deficiency2022 The EMBO Journal article Biochemistry, Genetics and Molecular Biology RNA regulation and disease Open access
Jorn E. Stok, Timo Oosenbrug, Laurens R. ter Haar, Dennis Gravekamp, Christian P. Bromley, Santiago Zelenay, +2 more
55citations -
Drosophila melanogaster as a versatile model organism to study genetic epilepsies: An overview2023 Frontiers in Molecular Neuroscience article Medicine Epilepsy research and treatment Open access
Florian P. Fischer, Robin A. Karge, Yvonne G. Weber, Henner Koch, Stefan Wolking, Aaron Voigt
50citations -
Neoadjuvant Cytoreductive Treatment With BRAF/MEK Inhibition of Prior Unresectable Regionally Advanced Melanoma to Allow Complete Surgical Resection, REDUCTOR2021 Annals of Surgery article Biochemistry, Genetics and Molecular Biology Melanoma and MAPK Pathways Open access
Stéphanie A. Blankenstein, Maartje W. Rohaan, W. Martin C. Klop, Bernies van der Hiel, Bart A. van de Wiel, Max J. Lahaye, +11 more
48citations -
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias2020 Stem Cell Reports article Medicine Cardiac electrophysiology and arrhythmias Open access cited by 1 patent
Karina O. Brandão, Lettine van den Brink, Duncan C. Miller, Catarina Grandela, Berend J. van Meer, Mervyn P.H. Mol, +6 more
44citations -
Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy2021 Nature Communications article Immunology and Microbiology interferon and immune responses Open access
Matthias Kettwig, Katharina Ternka, Kristin Wendland, Silvia Zampar, Charlotte Schob, Jonas Franz, +20 more
40citations -
plantR: An R package and workflow for managing species records from biological collections2021 Methods in Ecology and Evolution article Computer Science Research Data Management Practices Open access
Renato A. Ferreira de Lima, Andrea Sánchez‐Tapia, Sara Ribeiro Mortara, Hans ter Steege, Marinez Ferreira de Siqueira
40citations -
RNA-based therapies in inherited retinal diseases2022 Therapeutic Advances in Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Aniz Girach, Isabelle S. Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart Peter Leroy, +6 more
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AutoBioTech─A Versatile Biofoundry for Automated Strain Engineering2024 ACS Synthetic Biology article Biochemistry, Genetics and Molecular Biology Microbial Metabolic Engineering and Bioproduction Open access
Tobias Michael Rosch, Julia Tenhaef, Till Redeker, Dominic Kösters, Niels Hollmann, Karin Krumbach, +5 more
36citations -
Variation Between Multidisciplinary Tumor Boards in Clinical Staging and Treatment Recommendations for Patients With Locally Advanced Non-small Cell Lung Cancer
Fieke Hoeijmakers, David Jonathan Heineman, Johannes M. A. Daniels, Naomi Beck, Rob A.�E.�M. Tollenaar, Michel W.J.M. Wouters, +11 more
35citations -
The diverse molecular profiles of lynch syndrome-associated colorectal cancers are (highly) dependent on underlying germline mismatch repair mutations2021 Critical Reviews in Oncology/Hematology article Medicine Genetic factors in colorectal cancer Open access
Noah C. Helderman, Sanne W. ten Broeke, Hans M. Morreau, Manon Suerink, Diantha Terlouw, Tom van Wezel, +1 more
33citations -
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, +33 more
33citations