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 · 806 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Approach to the diagnosis of congenital myopathies

Kathryn N. North, Ching H. Wang, Nigel F. Clarke et al. · Neuromuscular Disorders · 2013 · 323 citations · Full text

Medicine, Genetics, Neurology +14

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 · 282 citations

Medicine, Genetics, Neurology +12

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 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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 · 204 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17