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Euclid Bypass end-to-end simulations for spectroscopic galaxy clustering performance assessment2026 arXiv (Cornell University) preprint Physics and Astronomy Galaxies: Formation, Evolution, Phenomena Open access
E791 Collaboration, B. R. Granett, S. de la Torre, M. Moresco, A. Farina, M. Bethermin, +94 more
0citations -
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 -
Haplotype Threading: Accurate Polyploid Phasing from Long Reads2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Sven D. Schrinner, Rebecca Serra Mari, Jana Ebler, Mikko Rautiainen, Lancelot Seillier, Julia J. Reimer, +3 more
18citations -
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 -
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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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 -
Tandem Substitutions in Somatic Hypermutation2021 Blood conference-abstract Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access
Marvyn T. Koning, Julieta Sepúlveda-Yáñez, Diego Álvarez-Saravia, Bas Pilzecker, Pauline A. van Schouwenburg, Mirjam van der Burg, +3 more
1citations -
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 -
Detection of Novel Asset Failures in Predictive Maintenance Using Classifier Certainty2024 2006 14th Mediterranean Conference on Control and Automation conference-paper Engineering Machine Fault Diagnosis Techniques Open access
Kiavash Fathi, Marko Ristin, Marcin Sadurski, Tobias Kleinert, Hans Wernher van de Venn
1citations