Anthony Antonellis

11PUBLICATIONS
23CO-AUTHORS
Regenerative medicine (incl. stem cells)Genome structure and regulationOtorhinolaryngologyAutonomic nervous systemGene expression (incl. microarray and other genome-wide approaches)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

|Aug 13, 2026
Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants.

|Jul 22, 2026
A call for unified use of human aminoacyl-tRNA synthetase (ARS) gene nomenclature.

|Jun 01, 2026
Multiple mechanisms lead to loss-of-function effects of pathogenic SARS2 variants.

|Mar 18, 2024
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.

Danique Beijer, Sheila Marte, Jiaxin C Li

|Oct 28, 2022
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.

Megan E Forrest, Alayne P Meyer, Stephanie M Laureano Figueroa

|Mar 25, 2022
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Alayne P Meyer, Megan E Forrest, Stefan Nicolau

Pageof 2

Frequent Collaborators

2 joint publications

Alayne P Meyer

1 joint publications

Christopher Francklyn

1 joint publications

Bianca R Grosz

1 joint publications

Kishore Kumar