Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report

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Germline analysis of an international cohort of pediatric diffuse midline glioma patients

Sebastian Martin Waszak

Factors that drive the development of diffuse midline gliomas (DMG) are unknown. Our study aimed to determine the prevalence of pathogenic/likely pathogenic (P/LP) germline variants in pediatric patients with DMG. We assembled an international cohort of 25 ...

Oxford University Press (OUP)2025

Learning the language of the genome: AI- and data-driven decoding of genetic variants and disease mechanisms

Ali Saadat Varnosfaderanii

Genetic variation plays a crucial role in human disease susceptibility and molecular pathophysiology. This thesis explores genetic determinants of disease using advanced computational approaches, including statistical modeling, network analysis, and deep l ...

EPFL2025

Comparative Population Transcriptomics Provide New Insight into the Evolutionary History and Adaptive Potential of World Ocean Krill

Gaëlle Delphine Toullec

Genetic variation is instrumental for adaptation to changing environments but it is unclear how it is structured and contributes to adaptation in pelagic species lacking clear barriers to gene flow. Here, we applied comparative genomics to extensive transc ...

2023

In vivo time-resolved spectroscopy of the human bronchial early cancer autofluorescence

Georges Wagnières, Tanja Gabrecht, Pascal Uehlinger

Time-resolved measurements of tissue autofluorescence (AF) excited at 405 nm were carried out with an optical-fiber-based spectrometer in the bronchi of 11 patients. The objectives consisted of assessing the lifetime as a new tumor/normal (T/N) tissue cont ...

SPIE Society of Photo-optical Instrumentation Engineers2009