Zakia A. Abdelhamed

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

IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment

Thibaut Eguether, Jovenal T. San Agustin, Brian T. Keady et al. · Developmental Cell · 2014 · 263 citations · Full text

Signal Transduction, Signaling Pathway, Gene Expression +7

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

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Clare V. Logan, Barbara Lucke, Caroline Pottinger et al. · Nature Genetics · 2011 · 110 citations

Developmental Biology, Disease Mechanism, Genetic Disorder +10

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymańska et al. · Human Molecular Genetics · 2013 · 107 citations · Full text