0 works0 citations0 h-index

Kathryn N. North

The University of Melbourne(AU)Murdoch Children's Research Institute(AU)

Publications by Year

Research Areas

Muscle Physiology and Disorders, Neurofibromatosis and Schwannoma Cases, Cardiomyopathy and Myosin Studies, Genetics and Physical Performance, Neurogenetic and Muscular Disorders Research

Most-Cited Works

→ Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis(2000)1,241 cited
→ ACTN3 Genotype Is Associated with Human Elite Athletic Performance(2003)912 cited
→ Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(2017)790 cited
→ A brief history of human disease genetics(2020)713 cited
→ The nature and frequency of cognitive deficits in children with neurofibromatosis type 1(2005)630 cited
→ Distinctive patterns of microRNA expression in primary muscular disorders(2007)506 cited

→ Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan(2007)

439 cited

→ A common nonsense mutation results in α-actinin-3 deficiency in the general population(1999)432 cited

→ Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy(1999)399 cited

→ Integrating Genomics into Healthcare: A Global Responsibility(2019)382 cited