Nicolas Casadei

MethylBench benchmarks DNA methylation profiling methods across sequencing platforms, finding consistent DMC hotspots and highlighting platform-specific strengths and limitations.

This study shows that epigenetic priming of healthy donor CD34+ stem cells drives S100A8/A9-driven inflammation, enhancing NK cell anti-leukemic activity during hematopoietic differentiation and improving response to 5-AzaC therapy in MDS.

This paper presents a Nanopore-only workflow for diploid T2T genome assembly and haplotype-resolved 3D chromatin maps, achieving high accuracy without hybrid polishing.

This study compares two single-cell RNA-sequencing multiplexing techniques, 10x and Parse, on cerebellar organoids, finding similar cellular diversity but differences in transcript capture and cell stress.

This study uses long-read RNA sequencing to analyze transcript diversity and regulation in human fibroblasts, induced pluripotent stem cells, and cortical neurons, revealing transcript-specific changes in disease-related genes.

This study shows that co-expressing human full-length and C-terminally truncated alpha-synuclein in mice increases alpha-synuclein aggregation and dopaminergic neuron loss, supporting the MI2BACo mouse model as a tool for Parkinson's disease research.

The paper describes the European Reference Genome Atlas (ERGA) pilot project, which tests a decentralized model for producing high-quality reference genomes across 98 European species.

This study uses microfluidic RNA-seq to analyze axonal transcriptomes from iPSC-derived neurons, revealing unique transcriptional features and highlighting the role of KIF1C in axonal health and neurodegeneration.

The paper presents a high-quality genome assembly for the ant Lasius platythorax using long-read sequencing and Hi-C, providing insights into the genomic basis of trait differentiation in ant species.

This study shows that overexpression of human alpha-synuclein in rats leads to gut microbiome dysbiosis, altered metabolites, and aging-related changes that can be modulated by antibiotics.

The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.

The paper uses long-read sequencing to accurately identify GBA variants as a major genetic risk factor for Parkinson's disease in a Luxembourg cohort.

This study uses Raman microspectroscopy to detect α-Synuclein aggregates in a rat model of Parkinson's disease, showing promise for early diagnosis.

This paper introduces Swarm Learning, a decentralized machine learning approach for disease classification using transcriptomic data, demonstrating its effectiveness in developing classifiers for COVID-19, tuberculosis, and leukemias while preserving privacy.

This study profiles endometrial tissue from MRKH syndrome patients using RNA-seq to identify altered transcription patterns and candidate genes involved in the syndrome.

This paper describes a novel Ataxin-3 knock-in mouse model that replicates key neuropathological, behavioral, and transcriptional features of human SCA3 disease.

This study identifies PINK1's role in regulating mitochondrial function, lipid metabolism, and dopamine homeostasis in dopaminergic neurons, showing that cholesterol depletion can reverse PINK1-related phenotypes.

This study shows that enriched environments reduce inflammation markers in Parkinson's disease mice by altering gut bacteria.