Hu, Ying

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., et al. (2017) · Science Translational Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 831

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

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

Burns, D. T., Donkervoort, S., Müller, J. S., Knierim, E., Bharucha-Goebel, D., Faqeih, E. A., Bell, S. K., AlFaifi, A. Y., Monies, D., Millan, F., et al. (2018) · The American Journal of Human Genetics

RNA Research and SplicingGenomics and Rare Diseases

Cited by 88

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