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Direct prediction of Homologous Recombination Deficiency from routine histology in ten different tumor types with attention-based Multiple Instance Learning: a development and validation study
Chiara Maria Lavinia Loeffler, Omar S. M. El Nahhas, Hannah Sophie Muti, Tobias Seibel, Didem Çifçi, Marko van Treeck, +9 more
12citations -
Reconstructing the human genetic history of mainland Southeast Asia: insights from genome-wide data from Thailand and Laos2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Forensic and Genetic Research Open access
Wibhu Kutanan, Dang Liu, Jatupol Kampuansai, Metawee Srikummool, Suparat Srithawong, Rasmi Shoocongdej, +5 more
10citations -
From the Circumnuclear Disk in the Galactic Center to thick, obscuring tori of AGNs -- Modelling the molecular emission of a parsec-scale torus as found in NGC10682022 arXiv (Cornell University) preprint Physics and Astronomy Galaxies: Formation, Evolution, Phenomena Open access
B. Vollmer, R. Davies, Pierre Gratier, T. Lizée, Masatoshi Imanishi, J. F. Gallimore, +3 more
9citations -
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies2025 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elsa Leitão, Amandine Santini, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, +89 more
9citations -
A cross-species spatial transcriptomic atlas of the human and non-human primate basal ganglia2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Madeleine N. Hewitt, Meghan A. Turner, Nelson Johansen, Delissa McMillen, Shu Dan, Mike DeBerardine, +46 more
8citations -
Can we trust the prediction model? Demonstrating the importance of external validation by investigating the COVID-19 Vulnerability (C-19) Index across an international network of observational healthcare datasets
Jenna Reps, Chungsoo Kim, Ross D. Williams, Aniek F. Markus, Cynthia Barcelon Yang, Talita Duarte Salles, +29 more
7citations -
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Windy Berkofsky‐Fessler, Sandrine M. Caputo, +36 more
6citations -
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments2024 medRxiv preprint 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, +31 more
5citations -
Safety and feasibility of fecal microbiota transplantation for Parkinson’s disease patients: a protocol for a self-controlled interventional donor-FMT pilot study
Karuna E.W. Vendrik, Vlada O Chernova, Ed J. Kuijper, Elisabeth M. Terveer, Jacobus Johannes van Hilten, Maria Fiorella Contarino
5citations -
Edaphobase 2.0: Advanced International Data Warehouse for Collating and Using Soil Biodiversity Datasets2024 SSRN Electronic Journal preprint Computer Science Research Data Management Practices Open access
David J. Russell, E. Naudts, Nadia Soudzilovskaia, María J.I. Briones, Erminia Conti, Jérôme Cortet, +20 more
5citations