Anthony Antonellis, Ph.D.
Affiliations: | 2005 | The George Washington University, Washington, DC, United States |
Area:
Genetics, Medicine and SurgeryGoogle:
"Anthony Antonellis"Mean distance: (not calculated yet)
Parents
Sign in to add mentor| Pamela L. Schwartzberg | grad student | 2005 | The George Washington University | |
| (Glycyl -tRNA synthetase mutations cause Charcot -Marie -Tooth disease type 2D and distal spinal muscular atrophy type V: A potentially novel disease mechanism for human peripheral neuropathies.) | ||||
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| Del Greco C, Kuo ME, Smith DEC, et al. (2025) Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype. Molecular Genetics & Genomic Medicine. 13: e70078 |
| Kuo ME, Parish M, Jonatzke KE, et al. (2024) Comprehensive assessment of recessive, pathogenic alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects. Biorxiv : the Preprint Server For Biology |
| Meyer-Schuman R, Cale AR, Pierluissi JA, et al. (2024) A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants. Hgg Advances. 100324 |
| Theuriet J, Marte S, Isapof A, et al. (2024) A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family. Journal of the Peripheral Nervous System : Jpns. 29: 275-278 |
| Meyer-Schuman R, Cale AR, Pierluissi JA, et al. (2024) Predictive modeling provides insight into the clinical heterogeneity associated with loss-of-function mutations. Biorxiv : the Preprint Server For Biology |
| Beijer D, Marte S, Li JC, et al. (2024) Dominant mutations causing axonal Charcot-Marie-Tooth disease expand -associated diseases. Brain Communications. 6: fcae070 |
| Meyer-Schuman R, Marte S, Smith TJ, et al. (2023) A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations. Human Molecular Genetics |
| Del Greco C, Antonellis A. (2022) The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease. Genes. 13 |
| Forrest ME, Meyer AP, Laureano Figueroa SM, et al. (2022) A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy. Cold Spring Harbor Molecular Case Studies |
| Meyer AP, Forrest ME, Nicolau S, et al. (2022) Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes. Human Mutation |