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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency2020 Blood article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Francesco Saettini, M. Cecilia Poli, Jaime E. Vengoechea, Sonia Bonanomi, Julio César Orellana, Grazia Fazio, +28 more
49citations -
Opportunities and challenges for antisense oligonucleotide therapies2020 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery Open access cited by 1 patent
Elsa C. Kuijper, Atze J. Bergsma, W.W.M. Pim Pijnappel, Annemieke M Aartsma-Rus
155citations -
De novo and somatic structural variant discovery with SVision-pro2024 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent
Songbo Wang, Jiadong Lin, Peng Jia, Tun Xu, Xiujuan Li, Y Liu, +4 more
30citations -
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha ( PI4K2A ) at the membrane‐enzyme interface is associated with metabolic cutis laxa2020 Journal of Inherited Metabolic Disease article Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Miski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, Sergio Guerrero‐Castillo, Daisy Dalloyaux, Sanne van Kraaij, +14 more
10citations -
The published complete mitochondrial genome of the milk shark (Rhizoprionodon acutus) is a misidentified Pacific spadenose shark (Scoliodon macrorhynchos) (Chondrichthyes: Carcharhiniformes)10citations
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Tandem Substitutions in Somatic Hypermutation2022 Frontiers in Immunology article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Julieta Sepúlveda-Yáñez, Diego Álvarez-Saravia, Bas Pilzecker, Pauline A. van Schouwenburg, Mirjam van der Burg, Hendrik Veelken, +3 more
4citations -
Strategies for a practical advantage of fault-tolerant circuit design in noisy trapped-ion quantum computers2023 Physical Review A article Computer Science Quantum Computing Algorithms and Architecture Open access
Sascha Heußen, Lukas Postler, Manuel Rispler, Ivan Pogorelov, Christian D. Marciniak, Thomas Monz, +2 more
27citations -
Impact of sampling strategy on inference of community assembly processes in phylogenetic island biogeography2025 Methods in Ecology and Evolution article Earth and Planetary Sciences Evolution and Paleontology Studies Open access
Ornela N. Dehayem, R. E. Brewer, Luís Valente, Frederic Lens, Rampal S. Etienne
3citations