Associated Papers
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2015
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA et al.
Genome Biology, 2014
24667040 (PubMed )
Supplement: gb-2014-15-3-r53-S3.pdf
Myotubularin phosphoinositide phosphatases in human diseases.
Amoasii L et al.
Current Topics in Microbiology and Immunology, 2012
Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.
Dowling JJ et al.
Human Molecular Genetics, 2010
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
Tosch V et al.
Human Molecular Genetics, 2006
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