Hanns Lochmüller
University of Ottawa(CA)Children's Hospital of Eastern Ontario(CA)Ottawa Hospital(CA)Centro Nacional de Análisis Genómico(ES)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Myasthenia Gravis and Thymoma, Cardiomyopathy and Myosin Studies, Genetic Neurodegenerative Diseases
Most-Cited Works
- → The Human Phenotype Ontology in 2017(2016)796 cited
- → Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources(2018)732 cited
- → The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations(2015)732 cited
- → Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review(2017)697 cited
- → Mutations in dynamin 2 cause dominant centronuclear myopathy(2005)456 cited
- → International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases(2017)444 cited
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