Anthony Antonellis
Biochemistry, Genetics and Molecular Biology · University of Michigan
Publications
142
Citations
6,249
Est. group size
~5
Recurring co-author estimate
Active years
29
Publishing since 1998
Typically publishes in teams of ~9 · 13% small-team papers (≤3 authors) · across 18 venues
- Multiple mechanisms lead to loss-of-function effects of pathogenic <i>SARS2</i> variants
Disease Models & Mechanisms · 2026
- A call for unified use of human aminoacyl‐ <scp>tRNA</scp> synthetase ( <scp>ARS</scp> ) gene nomenclature
FEBS Letters · 2026
- Loss‐of‐Function <scp><i>CARS1</i></scp> Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
Molecular Genetics & Genomic Medicine · 2025
- Recessive, pathogenic <i>AARS1</i> variants display variable loss-of-function and dominant-negative effects
Disease Models & Mechanisms · 2025
- Atypical Presentation of <scp><i>IARS1</i></scp>‐Related Disorder: Expanding the Phenotype and Genotype
JIMD Reports · 2025
- Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
Human Genetics and Genomics Advances · 2025
- A previously unreported <i>NARS1</i> variant causes dominant distal hereditary motor neuropathy in a French family
Journal of the Peripheral Nervous System · 2024
- Comprehensive assessment of recessive, pathogenic <i>AARS1</i> alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects
bioRxiv (Cold Spring Harbor Laboratory) · 2024
- The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease
Genes · 2022
- Comprehensive characterization of mRNAs associated with yeast cytosolic aminoacyl-tRNA synthetases
RNA Biology · 2021
- Comprehensive characterization of mRNAs associated with yeast cytosolic aminoacyl-tRNA synthetases
Figshare · 2021
- GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment
American Journal of Medical Genetics Part A · 2020
- Genetic approaches to the treatment of inherited neuromuscular diseases
Human Molecular Genetics · 2019
- Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging
Trends in Genetics · 2019
- Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy
The Cerebellum · 2019
- Figshare×23
- Human Molecular Genetics×8
- Human Mutation×7
- BMC Genomics×3
- Journal of the Peripheral Nervous System×3
- Stephanie L. Moon
Biochemistry, Genetics and Molecular Biology · University of Michigan
- Guramrit Singh
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Jason A. Watts
Biochemistry, Genetics and Molecular Biology · University of Michigan
- Ameya P. Jalihal
Biochemistry, Genetics and Molecular Biology · University of Michigan
- Elizabeth Tran
Biochemistry, Genetics and Molecular Biology · Purdue University West Lafayette
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 25, 2026.
Claim or correct this profile