Elizabeth T. DeChene

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Gail P. Jarvik, Laura M. Amendola, Jonathan S. Berg et al. · The American Journal of Human Genetics · 2014 · 368 citations · Full text

Genomic Results, Genetic Testing, Research Participants +9

Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy

Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo et al. · Neurology · 2013 · 213 citations · Full text

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)

Coen A. C. Ottenheijm, Pleuni E. Hooijman, Elizabeth T. DeChene et al. · Journal of Structural Biology · 2009 · 98 citations · Full text

Mechanobiology, Muscle Function, Kinesiology +11