Gabrielle Wheway

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 365 citations

Mitochondrial Myopathy, Mitochondrial Calcium, Muscle Disorder +11

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 245 citations · Full text

Ciliopathy Genes, Functional Genomics, Glioma +10

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

Adriana Buskin, Lili Zhu, Valeria Chichagova et al. · Nature Communications · 2018 · 228 citations · Full text

A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection

Cornelia Blume, Claire Jackson, C. Mirella Spalluto et al. · Nature Genetics · 2021 · 185 citations · Full text

Asthma, Novel Ace2 Isoform, Immunology +6

CiliaCarta: An integrated and validated compendium of ciliary genes

Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee et al. · PLoS ONE · 2019 · 169 citations · Full text

Genetics, Gene Characterization, Molecular Genetics +19