Anthony Antonellis

10PUBLICATIONS
20CO-AUTHORS
Genome structure and regulationOtorhinolaryngologyAutonomic nervous systemGene expression (incl. microarray and other genome-wide approaches)Neurogenetics
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Publications (10)

|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

|Apr 26, 2020
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.

Daniele Galatolo, Molly E Kuo, Patrick Mullen

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Frequent Collaborators

2 joint publications

Alayne P Meyer

1 joint publications

Christopher Francklyn

1 joint publications

Bianca R Grosz

1 joint publications

Kishore Kumar