Redin, Claire

A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, Drosophila , and Humans

Bricker, D. K., Taylor, E. B., Schell, J. C., Orsak, T., Boutron, A., Chen, Y.-C., Cox, J. E., Cardon, C. M., Van Vranken, J. G., Dephoure, N., et al. (2012) · Science

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 843

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 334

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., et al. (2015) · European Journal of Human Genetics

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental Disorders

Cited by 105