Cohn, Ronald D.

Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

Habashi, J. P., Judge, D. P., Holm, T. M., Cohn, R. D., Loeys, B. L., Cooper, T. K., Myers, L., Klein, E. C., Liu, G., Calvi, C., et al. (2006) · Science

Connective tissue disorders researchAortic aneurysm repair treatments

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Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies

Michele, D. E., Barresi, R., Kanagawa, M., Saito, F., Cohn, R. D., Satz, J. S., Dollar, J., Nishino, I., Kelley, R. I., Somer, H., et al. (2002) · Nature

Muscle Physiology and DisordersGlycosylation and Glycoproteins Research

Cited by 779

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Lionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 557

Regulation of Muscle Mass by Follistatin and Activins

Lee, S.-J., Lee, Y.-S., Zimmers, T. A., Soleimani, A., Matzuk, M. M., Tsuchida, K., Cohn, R. D., & Barton, E. R. (2010) · Molecular Endocrinology

Muscle Physiology and DisordersTGF-β signaling in diseases

Cited by 273

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Reijnders, M. R. F., Ansor, N. M., Kousi, M., Yue, W. W., Tan, P. L., Clarkson, K., Clayton-Smith, J., Corning, K., Jones, J. R., Lam, W. W. K., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 168

Saturation variant interpretation using CRISPR prime editing

Erwood, S., Bily, T. M. I., Lequyer, J., Yan, J., Gulati, N., Brewer, R. A., Zhou, L., Pelletier, L., Ivakine, E. A., & Cohn, R. D. (2022) · Nature Biotechnology

CRISPR and Genetic EngineeringGenomics and Rare Diseases

Cited by 163

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Costain, G., Jobling, R., Walker, S., Reuter, M. S., Snell, M., Bowdin, S., Cohn, R. D., Dupuis, L., Hewson, S., Mercimek-Andrews, S., et al. (2018) · European Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 138

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

Wojtal, D., Kemaladewi, D. U., Malam, Z., Abdullah, S., Wong, T. W. Y., Hyatt, E., Baghestani, Z., Pereira, S., Stavropoulos, J., Mouly, V., et al. (2016) · The American Journal of Human Genetics

CRISPR and Genetic EngineeringVirus-based gene therapy research

Cited by 121

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Yoon, G., Malam, Z., Paton, T., Marshall, C. R., Hyatt, E., Ivakine, Z., Scherer, S. W., Lee, K.-S., Hawkins, C., Cohn, R. D., et al. (2016) · The Journal of Pediatrics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 78