Nicolas Guex

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

The paper uses metabolomics to identify endocannabinoid system changes in adipose tissue during obesity-induced inflammation in mice.

The paper investigates BLTP1's role in neocortical lamination by analyzing patients and mouse models, finding lipid transport defects cause structural brain abnormalities.

The paper presents a chromosome-level, haplotype-resolved genome assembly for the barn owl, resolving microchromosomes and enabling structural variation studies.

This study investigates how chromatin accessibility and PIF7 binding regulate shade-responsive gene expression in Arabidopsis under short and prolonged shade exposure.

The paper presents two workflows for analyzing multiplexed imaging data from cancer tissues, applied to over 10,000 samples from 2500 patients, enabling large-scale tumor microenvironment studies.

This study identifies BUD23 as a regulator of energy homeostasis by controlling translation of mitochondrial and lipogenic mRNAs, linking ribosomal modification to metabolic health.

The paper shows that Pus7 mutations reduce tRNA-Asp levels, activating the integrated stress response and glycolytic reprogramming, which contributes to aggressive behavior.

This study repairs a harmful mutation in a tomato gene using base editing, resulting in plants with compact growth and earlier fruit yield.

The paper develops an in vitro re-initiation assay and uses ribosome profiling to show that MCTS2 and eIF2D have distinct roles in uORF-dependent translation.

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

The paper shows that neighboring post-translational modifications affect the detection of phosphorylated alpha-synuclein at Serine 129 by existing antibodies.

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

The paper introduces dbnorm, an R package to visualize and correct signal drift in metabolomics data across batches, improving the detection of true biological variation.

The paper introduces an R package for automated and reproducible analysis of kinase activity data from PamChip(R) arrays.

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

This study compares gene expression and epigenetic changes in mouse livers after partial hepatectomy and sham surgery, showing similar early responses but distinct later gene regulation patterns specific to regeneration.