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

Life Sciences, Genetics, Molecular Genetics +17

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 · 377 citations · Full text

Life Sciences, Genetics, Psychology +13

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

Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo et al. · Neurology · 2013 · 217 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 137 citations · Full text

Medicine, Genetics, Neurology +17

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 · 99 citations · Full text

Natural Sciences, Biophysics, Mechanobiology +11