Bulman, Dennis E
6 papers on CoChatORCID 0000-0003-2588-4255
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
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics
Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases
Cited by 741
- Verified
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin
England, S. B., Nicholson, L. V. B., Johnson, M. A., Forrest, S. M., Love, D. R., Zubrzycka-Gaarn, E. E., Bulman, D. E., Harris, J. B., & Davies, K. E. (1990) · Nature
Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research
Cited by 623
- Verified
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., et al. (2011) · The American Journal of Human Genetics
Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances
Cited by 194
- Verified
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
Smith, A. C., Mears, A. J., Bunker, R., Ahmed, A., MacKenzie, M., Schwartzentruber, J. A., Beaulieu, C. L., Ferretti, E., FORGE Canada Consortium, Majewski, J., et al. (2014) · Journal of Medical Genetics
Connective tissue disorders researchGenomics and Rare Diseases
Cited by 87
- Verified
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 41
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