Daniel G. MacArthur, Ph.D
Affiliations: | Medical and Population Genetics | Broad Institute of MIT and Harvard, USA |
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"Daniel MacArthur"
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| Foley AR, Bolduc V, Guirguis F, et al. (2024) The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. Medrxiv : the Preprint Server For Health Sciences |
| Jurgens JA, Barry BJ, Chan WM, et al. (2024) Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Medrxiv : the Preprint Server For Health Sciences |
| Lemire G, Sanchis-Juan A, Russell K, et al. (2024) Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American Journal of Human Genetics |
| Marchant RG, Bryen SJ, Bahlo M, et al. (2024) Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of Clinical and Translational Neurology |
| Töpf A, Cox D, Zaharieva IT, et al. (2024) Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics |
| Lee AS, Ayers LJ, Kosicki M, et al. (2023) A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. Medrxiv : the Preprint Server For Health Sciences |
| Lemire G, Sanchis-Juan A, Russell K, et al. (2023) Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. Medrxiv : the Preprint Server For Health Sciences |
| Karczewski KJ, Solomonson M, Chao KR, et al. (2022) Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes. Cell Genomics. 2: 100168 |
| Dhindsa RS, Wang Q, Vitsios D, et al. (2022) A minimal role for synonymous variation in human disease. American Journal of Human Genetics. 109: 2105-2109 |
| Baxter SM, Posey JE, Lake NJ, et al. (2022) Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genetics in Medicine : Official Journal of the American College of Medical Genetics |