Miki Susic

COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

Richard Wenstrup, Jane B. Florer, Marcia Willing et al. · The American Journal of Human Genetics · 2000 · 127 citations · Full text

Protein Function, Signal Transduction, Common Molecular Mechanism +9

Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate

Jacqueline T. Hecht, Outi Mäkitie, Elizabeth Hayes et al. · Journal of Orthopaedic Research® · 2004 · 79 citations

Tissue Engineering, Growth Plate Matrix, Engineering +22

COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid

Matthew Ho, Kwok Yeung Tsang, Rebecca Lo et al. · Human Molecular Genetics · 2007 · 74 citations · Full text

Cytosine modifications exhibit circadian oscillations that are involved in epigenetic diversity and aging

Gabriel Oh, Sasha B. Ebrahimi, Matthew Carlucci et al. · Nature Communications · 2018 · 64 citations · Full text

Epigenetic Change, Genetics, Epigenetic Diversity +19

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the <i>DTDST</i> gene: Double‐layer patella as a reliable sign

Outi Mäkitie, Ravi Savarirayan, Luisa Bonafé et al. · American Journal of Medical Genetics Part A · 2003 · 60 citations