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Anthony Antonellis

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 7

Top Venues

Human mutation

Scientific reports

Cold Spring Harbor molecular case studies

University of Michigan Medical School

George Washington University / National Institutes of Health (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Michigan Medical School

United States

Assistant Professor :: Human Genetics

Education History

George Washington University / National Institutes of Health

United States

PHD :: Genetics

Publications

Alayne P Meyer, Megan E Forrest, Stefan Nicolau, Wojciech Wiszniewski, Mary Pat Bland, Chang-Yong Tsao, Anthony Antonellis, Nicolas J Abreu
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes. Human mutation 43 (7) (2022)
Megan E Forrest, Alayne P Meyer, Stephanie M Laureano Figueroa, Anthony Antonellis
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy. Cold Spring Harbor molecular case studies (2022)
Daniele Galatolo, Molly E Kuo, Patrick Mullen, Rebecca Meyer-Schuman, Stefano Doccini, Roberta Battini, Maria Lieto, Alessandra Tessa, Alessandro Filla, Christopher Francklyn, Anthony Antonellis, Filippo Maria Santorelli
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. Human mutation 41 (7) (2020)
Bianca Rose Grosz, Natasha B Golovchenko, Melina Ellis, Kishore Raj Kumar, Garth A Nicholson, Anthony Antonellis, Marina L Kennerson
A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy). Scientific reports 9 (1) (2019)
Anthony Antonellis, Stephanie N Oprescu, Laurie B Griffin, Amer Heider, Andrea Amalfitano, Jeffrey W Innis
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease. Human mutation 39 (6) (2018)
Stephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, Gretchen Golas, Thomas C Markello, David R Adams, Camilo Toro, Andrea L Gropman, Ya-Ming Hou, May Christine V Malicdan, William A Gahl, Cynthia J Tifft, Anthony Antonellis
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. Human mutation 38 (10) (2017)
Jamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, Shawna Feely, Inès Mademan, Stephanie N Oprescu, Laurie B Griffin, M Antonia Alberti, Carlos Casasnovas, Sharon Aharoni, Lina Basel-Vanagaite, Stephan Züchner, Peter De Jonghe, Jonathan Baets, Michael E Shy, Carmen Espinós, Borries Demeler, Anthony Antonellis, Christopher S Francklyn
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Human mutation 39 (3) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Anthony Antonellis