Shinya Yamamoto

This study investigates the functional impact of a DNM1L GED deletion variant, showing intermediate effects on peroxisomal and mitochondrial dynamics and a targetable metabolic vulnerability.

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

This study identifies the role of Hippo signaling in regulating cuticle pigmentation and dopamine metabolism in Drosophila through genetic and transcriptomic analyses.

DIOPT updates its ortholog prediction tool to include more species and algorithms, enhancing its utility for cross-species genomic analysis.

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

This study investigates the functional impact of different NLGN3 variants in Drosophila, finding distinct effects on synapse morphology, sleep behavior, and vesicle dynamics.

The paper identifies regulators of dopamine and sleep in Drosophila by screening genes affecting cuticle pigmentation, finding novel genes like mask that influence dopamine metabolism and behavior.

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 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 shows that glucose uptake in pigment glia reduces inflammation and photoreceptor degeneration in a Drosophila model of tauopathy.

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 uses Drosophila to express Zika virus proteins and identifies phenotypes and host pathways disrupted by the virus during development.

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.

A de novo EZH1 variant p.Ala678Gly is linked to neurodevelopmental delay and shows functional deficits in Drosophila melanogaster.

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.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

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

This study shows TM2D genes regulate Notch signaling and neuronal function in Drosophila, with implications for Alzheimer's disease.

The paper identifies 18 Drosophila genes affecting peroxisomes through a genetic screen and links their human homologs to potential dominant genetic diseases.

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 damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.