Zou, Yaqun

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., et al. (2014) · Human Molecular Genetics

Muscle Physiology and DisordersConnective tissue disorders research

Cited by 143

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

Hicks, D., Farsani, G. T., Laval, S., Collins, J., Sarkozy, A., Martoni, E., Shah, A., Zou, Y., Koch, M., Bonnemann, C. G., et al. (2014) · Human Molecular Genetics

Muscle Physiology and DisordersConnective tissue disorders research

Cited by 111

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Punetha, J., Kesari, A., Hoffman, E. P., Gos, M., Kamińska, A., Kostera‐Pruszczyk, A., Hausmanowa‐Petrusewicz, I., Hu, Y., Zou, Y., Bönnemann, C. G., et al. (2017) · Muscle & Nerve

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 39