Dowling, James J.
University of Toronto
7 papers on CoChatORCID 0000-0002-3984-4169
Most cited papers
- Verified
Guidelines for the use and interpretation of assays for monitoring autophagy
Klionsky, D. J., Abdalla, F. C., Abeliovich, H., Abraham, R. T., Acevedo-Arozena, A., Adeli, K., Agholme, L., Agnello, M., Agostinis, P., Aguirre-Ghiso, J. A., et al. (2012) · Autophagy
Autophagy in Disease and TherapyCalcium signaling and nucleotide metabolism
Cited by 3,996
- Verified
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
- Verified
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
- Verified
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
- Verified · note
X-linked myotubular myopathy: A prospective international natural history study
Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Chê, V., Schara, U., Gangfuß, A., D'Amico, A., Dowling, J. J., Darras, B. T., et al. (2019) · Neurology
Neurogenetic and Muscular Disorders ResearchMuscle Physiology and Disorders
Cited by 94
- Verified
Re:”Moving forward after two deaths in a gene therapy trial of myotubular myopathy” by Wilson and flotte
Shieh, P. B., Bönnemann, C. G., Müller-Felber, W., Blaschek, A., Dowling, J. J., Kuntz, N. L., & Seferian, A. M. (2020) · Human Gene Therapy
Virus-based gene therapy researchNeurogenetic and Muscular Disorders Research
Cited by 91
- Verified
Further delineation of BCAP31‐linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., et al. (2021) · European Journal of Human Genetics
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 15
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