Hugo Jozef Bellen

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

This study shows that Drosophila NECAP inhibits light-induced Rhodopsin-1 internalization, preventing retinal degeneration.

The paper reports seven individuals with PLCG1 variants causing hearing, vision, cardiac, and immune issues, and shows these variants have gain-of-function effects in Drosophila models.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

This study identifies nervous system requirements for Alzheimer's disease risk genes in Drosophila by analyzing gene function and neurodegeneration.

The paper uses snRNA-seq in Drosophila to study how AD-associated proteins affect peripheral tissues, finding distinct impacts of Aβ42 and Tau on sensory neurons and non-neuronal tissues.

The paper identifies a hypomorphic SLC6A1 variant causing variable expressivity in neurodevelopmental disorders using clinical phenotyping and Drosophila models.

The paper identifies an AD protective allele of CLU that enhances neuronal excitability via lipid-droplet-mediated neuron-glia communication.

This paper introduces flow zoometry, a high-throughput screening method for Drosophila, enabling rapid, automated, and high-resolution analysis of whole animals.

The paper identifies de novo RBBP5 variants in individuals with neurodevelopmental disorders and shows they cause loss of function through structural and Drosophila model analyses.

This study identifies CK2-dependent phosphorylation of Daam2 as a regulatory mechanism controlling oligodendrocyte development and myelin repair through Wnt signaling.

The paper correlates allelic strengths of UBA5 variants in vivo and in vitro, classifying them into mild, intermediate, and severe based on functional assays.

The paper identifies de novo and inherited variants in DDX39B causing a syndrome with neurodevelopmental delay, short stature, and hypotonia, supported by molecular modeling and functional studies in Drosophila.

The paper presents an aging Drosophila cell atlas, identifies cell type-specific aging patterns, and shows ribosomal gene expression as a conserved aging predictor.

This paper shows that the voltage-gated sodium channel Para localizes to dendrites and axons in Drosophila chordotonal neurons, suggesting dendritic spike initiation zones and roles in mechanotransduction.

This study shows that loss of MECR causes elevated ceramide levels and impaired iron metabolism, linking mitochondrial fatty acid synthesis to neurodegeneration.

The paper identifies a bipartite sialylation pathway in Drosophila where glia and neurons perform distinct roles in regulating neural transmission and stress tolerance.

The paper identifies ceramide accumulation, lysosomal expansion, and mitochondrial defects as root causes of INAD/PARK14 and tests therapeutic strategies including drugs and gene therapy.

The paper identifies de novo MRTFB variants in humans linked to a neurodevelopmental disorder and shows their gain of function activity in Drosophila with specific phenotypes.

This paper identifies bioenergetic dysfunction due to reduced activity-induced mitochondrial ATP production as the cause of synaptic defects in a Drosophila ALS model.

The paper develops new CRISPR-based constructs for Drosophila gene tagging, enabling efficient gene modification with a 70-80% success rate regardless of exon-intron structure.

ModelMatcher connects researchers, clinicians, and stakeholders in rare disease research to accelerate translational studies and collaborations.

This study shows that low doses of spinosad cause lysosomal defects, oxidative stress, lipid dysregulation, and neurodegeneration in Drosophila.

The paper systematically profiles dprs and DIPs expression in Drosophila larval neurons to identify cell surface codes involved in synaptic recognition.

This study identifies cell-specific roles of AD risk genes in ROS-induced glial lipid droplet formation and shows how their loss affects Aβ42 toxicity and plaque formation.

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

The paper introduces three simplified CRISPR-based methods for DNA insertion in Drosophila, using short homology arms and ssDNA/dsDNA donors to generate transgenic constructs efficiently.

This study identifies ANKLE2 as a Zika virus target that regulates neuroblast asymmetric division, linking it to microcephaly and motor neuron disease through interactions with VRK1 and LLGL1.