Beggs, Alan H.

Genotype-Phenotype Correlation in the Long-QT Syndrome: Gene-Specific Triggers for Life-Threatening Arrhythmias

Schwartz, P. J., Priori, S. G., Spazzolini, C., Moss, A. J., Vincent, G. M., Napolitano, C., Denjoy, I., Guicheney, P., Breithardt, G., Keating, M. T., et al. (2001) · Circulation

Cardiac electrophysiology and arrhythmiasIon channel regulation and function

Cited by 1,779

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

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

Splawski, I., Timothy, K. W., Decher, N., Kumar, P., Sachse, F. B., Beggs, A. H., Sanguinetti, M. C., & Keating, M. T. (2005) · Proceedings of the National Academy of Sciences

Cardiac electrophysiology and arrhythmiasIon channel regulation and function

Cited by 624

Competitive binding of α-actinin and calmodulin to the NMDA receptor

Wyszynski, M., Lin, J., Rao, A., Nigh, E., Beggs, A. H., Craig, A. M., & Sheng, M. (1997) · Nature

Neuroscience and Neuropharmacology ResearchGenetics and Neurodevelopmental Disorders

Cited by 596

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Sankaran, V. G., Ghazvinian, R., Do, R., Thiru, P., Vergilio, J.-A., Beggs, A. H., Sieff, C. A., Orkin, S. H., Nathan, D. G., Lander, E. S., et al. (2012) · Journal of Clinical Investigation

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 342

Altered translation of GATA1 in Diamond-Blackfan anemia

Ludwig, L. S., Gazda, H. T., Eng, J. C., Eichhorn, S. W., Thiru, P., Ghazvinian, R., George, T. I., Gotlib, J. R., Beggs, A. H., Sieff, C. A., et al. (2014) · Nature Medicine

Blood disorders and treatmentsRNA and protein synthesis mechanisms

Cited by 302

The Genetic Landscape of Diamond-Blackfan Anemia

Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., et al. (2018) · The American Journal of Human Genetics

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 272

The ribosomal basis of diamond-blackfan anemia: mutation and database update

Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., et al. (2010) · Human Mutation

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 233

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy

Childers, M. K., Joubert, R., Poulard, K., Moal, C., Grange, R. W., Doering, J. A., Lawlor, M. W., Rider, B. E., Jamet, T., Danièle, N., et al. (2014) · Science Translational Medicine

Virus-based gene therapy researchNeurogenetic and Muscular Disorders Research

Cited by 173

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

Differential Regional Expression and Ultrastructural Localization of α-Actinin-2, a Putative NMDA Receptor-Anchoring Protein, in Rat Brain

Wyszynski, M., Kharazia, V., Shanghvi, R., Rao, A., Beggs, A. H., Craig, A. M., Weinberg, R., & Sheng, M. (1998) · The Journal of Neuroscience

Neuroscience and Neuropharmacology ResearchGenetics and Neurodevelopmental Disorders

Cited by 168

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

Birgmeier, J., Haeussler, M., Deisseroth, C. A., Steinberg, E. H., Jagadeesh, K. A., Ratner, A. J., Guturu, H., Wenger, A. M., Diekhans, M. E., Stenson, P. D., et al. (2020) · Science Translational Medicine

Genomics and Rare DiseasesBiomedical Text Mining and Ontologies

Cited by 118

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

Mack, D. L., Poulard, K., Goddard, M. A., Latournerie, V., Snyder, J. M., Grange, R. W., Elverman, M. R., Denard, J., Veron, P., Buscara, L., et al. (2017) · Molecular Therapy

Virus-based gene therapy researchNeurogenetic and Muscular Disorders Research

Cited by 114

A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

Beggs, A. H., Byrne, B. J., De Chastonay, S., Haselkorn, T., Hughes, I., James, E. S., Kuntz, N. L., Simon, J., Swanson, L. C., Yang, M. L., et al. (2018) · Muscle & Nerve

Neurogenetic and Muscular Disorders ResearchMuscle Physiology and Disorders

Cited by 83

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy

Elverman, M., Goddard, M. A., Mack, D., Snyder, J. M., Lawlor, M. W., Meng, H., Beggs, A. H., Buj‐Bello, A., Poulard, K., Marsh, A. P., et al. (2017) · Muscle & Nerve

Virus-based gene therapy researchNeurogenetic and Muscular Disorders Research

Cited by 65

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27