Yaqun Zou

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler et al. · The American Journal of Human Genetics · 2012 · 156 citations · Full text

Ehlers-danlos Syndrome, Mendelian Disorder, Autoimmune Disease +8

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Joachim Schessl, Yaqun Zou, Meagan J. McGrath et al. · Journal of Clinical Investigation · 2008 · 154 citations · Full text

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

Dessislava Markova, Yaqun Zou, Franziska Ringpfeil et al. · The American Journal of Human Genetics · 2003 · 152 citations · Full text

Genetic Diversity, Cutis Laxa, Comparative Genomics +10

Muscle Interstitial Fibroblasts Are the Main Source of Collagen VI Synthesis in Skeletal Muscle: Implications for Congenital Muscular Dystrophy Types Ullrich and Bethlem

Yaqun Zou, Rui-Zhu Zhang, Patrizia Sabatelli et al. · Journal of Neuropathology & Experimental Neurology · 2008 · 145 citations · Full text

Fibrosis, Developmental Biology, Collagen Vi Synthesis +14

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

Yaqun Zou, Daniela Zwolanek, Yayoi Izu et al. · Human Molecular Genetics · 2013 · 135 citations · Full text

Engineering, Genetics, Pathology +21