Nigel F. Clarke
University of Limerick(IE)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, Nuclear Structure and Function
Most-Cited Works
- → Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(2017)790 cited
- → Approach to the diagnosis of congenital myopathies(2013)318 cited
- → De novo LMNA mutations cause a new form of congenital muscular dystrophy(2008)281 cited
- → Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy(2013)221 cited
- → Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy(2014)201 cited
- → Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy(2015)200 cited
- → Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia(2013)189 cited
- → Consensus Statement on Standard of Care for Congenital Myopathies(2012)187 cited
- → SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance(2006)175 cited
- → Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion(2010)172 cited