North, Kathryn N.

Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Kaplan, J. M., H Kim, S., North, K. N., Rennke, H., A Correia, L., Tong, H.-Q., Mathis, B. J., Rodríguez-Pérez, J.-C., Allen, P. G., Beggs, A. H., et al. (2000) · Nature Genetics

Renal Diseases and GlomerulopathiesChronic Kidney Disease and Diabetes

Cited by 1,235

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O’Grady, G. L., et al. (2017) · Science Translational Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 831

A brief history of human disease genetics

Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 697

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., et al. (2007) · Brain

Muscle Physiology and DisordersGlycosylation and Glycoproteins Research

Cited by 441

Genes and human elite athletic performance

MacArthur, D. G., & North, K. N. (2005) · Human Genetics

Genetics and Physical PerformanceGenetic Associations and Epidemiology

Cited by 229

No evidence of a common DNA variant profile specific to world class endurance athletes.

Rankinen, T., Fuku, N., Wolfarth, B., Wang, G., Sarzynski, M. A., Alexeev, D. G., Ahmetov, I. I., Boulay, M. R., Cieszczyk, P., Eynon, N., et al. (2016) · PLOS ONE

Genetics and Physical PerformanceGenetic Associations and Epidemiology

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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., et al. (2013) · The American Journal of Human Genetics

Muscle Physiology and DisordersGenomics and Rare Diseases

Cited by 168

T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning

Hyman, S. L., Gill, D. S., Shores, E. A., Steinberg, A., & North, K. N. (2007) · Journal of Neurology, Neurosurgery & Psychiatry

Neurofibromatosis and Schwannoma CasesNeuroblastoma Research and Treatments

Cited by 99

Dietary l-tyrosine supplementation in nemaline myopathy

Ryan, M. M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L. G., Iannaccone, S. T., Kornberg, A. J., & North, K. N. (2008) · Journal of Child Neurology

Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research

Cited by 68

Integrating Transwomen and Female Athletes with Differences of Sex Development (DSD) into Elite Competition: The FIMS 2021 Consensus Statement

Hamilton, B. R., Lima, G., Barrett, J., Seal, L., Kolliari-Turner, A., Wang, G., Karanikolou, A., Bigard, X., Löllgen, H., Zupet, P., et al. (2021) · Sports Medicine

Sports, Gender, and SocietySexual Differentiation and Disorders

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