Michael F. Wangler

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.

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

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 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.

This study uses Drosophila models to identify phospholipid and sphingolipid abnormalities in peroxisomal biogenesis disorders, revealing substrate channeling effects on lipid acyl chain lengths.

This study uses Drosophila to model PEX gene variants associated with different severities of peroxisomal biogenesis disorders, showing phenotypic variation based on mutation type.

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

This paper investigates the role of the Drosophila ABCD1 ortholog in peroxisomal dynamics and shows that human ABCD1 overexpression inhibits peroxisomal biogenesis.

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.

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 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.

The paper finds that genes with higher frequencies of CGN arginine codons are more likely to be associated with genetic disorders, particularly dominant conditions.

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

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