Gabrielle Wheway

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

This study identifies UBE2E1 and MKS1 as components of the ubiquitin proteasome system regulating Wnt signaling at the primary cilium, linking ciliary defects to ciliopathy pathogenesis.

This study identifies splicing changes in cilia and PAEP genes in endometrial glands of women with recurrent pregnancy loss, suggesting potential biomarkers for endometrial dysfunction.

The paper compares immune responses in influenza and SARS-CoV-2 infected patients and COVID-19 survivors using transcriptomic data, identifying distinct immune signatures and prognostic indicators.

The paper identifies a novel short ACE2 isoform expressed in respiratory epithelia that is upregulated by interferon and RNA virus infection but not SARS-CoV-2, and shows reduced SARS-CoV-2 binding affinity.

This paper presents a high-throughput imaging assay for characterizing PRPF31 missense variants using CRISPR-edited cells, providing evidence for variant classification.

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.

The paper uses in silico, in vitro, and clinical approaches to assess the pathogenicity of a novel missense variant in PRPF31 associated with retinitis pigmentosa.

The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.