Nigel F. Clarke

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

Approach to the diagnosis of congenital myopathies

Kathryn N. North, Ching H. Wang, Nigel F. Clarke et al. · Neuromuscular Disorders · 2013 · 313 citations · Full text

De novo <i>LMNA</i> mutations cause a new form of congenital muscular dystrophy

Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann et al. · Annals of Neurology · 2008 · 281 citations

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 220 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling et al. · Journal of Clinical Investigation · 2014 · 200 citations · Full text

Mechanobiology, Thin Filaments, Systems Biology +15