Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Myosins  [Clear All Filters]
2015
Chong, J. X. et al. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet 96, 841-9 (2015).
2016
Rehman, A. U. et al. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Hum Mutat 37, 991-1003 (2016).
2017
Zieba, J. et al. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. Sci Rep 7, 41803 (2017).
2020
Chong, J. X. et al. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am J Hum Genet 107, 293-310 (2020).
2021
Dianatpour, M. et al. Identification of homozygous mutations for hearing loss. Gene 778, 145464 (2021).