Person

Nicolas Jean Philippe Guex

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Ontological neighbourhood
Courses taught by this person (2)
BIOENG-519: Methods: omics in biomedical research
High-throughput methodologies broadly called Omics allow to characterize the complexity and dynamics of any biological system. This course will provide a general description of different methods relat
BIO-693: Bioinformatic Analysis of RNA-sequencing
This course will take place from 3rd to 7th June 2024. It will introduce the workflows and techniques that are used for the analysis of bulk and single cell RNA-seq data. It will empower students to
Related publications (33)

Please note that this is not a complete list of this person’s publications. It includes only semantically relevant works. For a full list, please refer to Infoscience.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli

Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...
BMC2024

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

Nicolas Jean Philippe Guex

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, i ...
2023
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