Ravenscroft, Gianina

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., et al. (2013) · The American Journal of Human Genetics

Muscle Physiology and DisordersGenomics and Rare Diseases

Cited by 168

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Garg, A., O’Rourke, J., Long, C., Doering, J., Ravenscroft, G., Bezprozvannaya, S., Nelson, B. R., Beetz, N., Li, L., Chen, S., et al. (2014) · Journal of Clinical Investigation

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

Cited by 127

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Beecroft, S. J., Ayala, M., McGillivray, G., Nanda, V., Agolini, E., Novelli, A., Digilio, M. C., Dotta, A., Carrozzo, R., Clayton, J., et al. (2021) · Human Mutation

Genomics and Rare DiseasesCongenital heart defects research

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