Anthony Antonellis

6.1k citations

75 papers · 3.8k indexed · h-index 30

Impact in

Cellular and Molecular Neuroscience top 2%
- Hereditary Neurological Disorders
Neurology top 2%
- Neurological diseases and metabolism

Papers in

Cellular and Molecular Neuroscience 28
- Hereditary Neurological Disorders 26
Neurology 8
- Neurological diseases and metabolism 8

Co-authors: Eric D. Green James H. Warram William J. Pavan Rebecca Meyer‐Schuman Maciej T. Małecki Andrzej S. Królewski Kenneth H. Fischbeck Alessandro Doria
Journals: Human Molecular Genetics (10 papers)Human Mutation (9 papers)Diabetes (3 papers)BMC Genomics (3 papers)Diabetic Medicine (2 papers)
Partner nations: United States Australia United Kingdom

In The Last Decade

Anthony Antonellis

73 papers receiving 3.7k citations

Peers

Countries citing papers authored by Anthony Antonellis

Since Specialization

Citations

This map shows the geographic impact of Anthony Antonellis's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Anthony Antonellis with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Anthony Antonellis more than expected).

Fields of papers citing papers by Anthony Antonellis

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Anthony Antonellis. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Anthony Antonellis. The network helps show where Anthony Antonellis may publish in the future.

Co-authors

The 25 scholars most cited alongside Anthony Antonellis, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Anthony Antonellis Line = papers co-authored together Anthony Antonellis links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype JIMD Reports ·Parith Wongkittichote, Kira E. Jonatzke, Benjamin T. Hyde, Lance W. Peterson, Mai He, Robert C. McKinstry, Anthony Antonellis, Marwan Shinawi	2025	1
2	Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype Molecular Genetics & Genomic Medicine ·Christina Del Greco, Molly E. Kuo, Desirée E.C. Smith, Marisa I. Mendes, Gajja S. Salamons, Marek Nemčovič, Rebeka Kodríková, Sergej Šesták, M Stancheva, Anthony Antonellis	2025	0
3	A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations Human Molecular Genetics ·Rebecca Meyer‐Schuman, Sheila Marte, T.J. Smith, Shawna Feely, Marina Kennerson, Garth A. Nicholson, Mike E Shy, Kristin S. Koutmou, Anthony Antonellis	2023	7
4	SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells BMC Genomics ·Elizabeth A. Fogarty, Jacob O. Kitzman, Anthony Antonellis	2020	15
5	A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset Journal of Neuromuscular Diseases ·Meredith Gillespie, Hugh J. McMillan, Kristin D. Kernohan, Izabella A. Pena, Rebecca Meyer‐Schuman, Anthony Antonellis, Kym M. Boycott	2019	12
6	MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease European Journal of Medical Genetics ·Jonathan Rips, Rebecca Meyer‐Schuman, Oded Breuer, Reuven Tsabari, Avraham Shaag, Shoshana Revel‐Vilk, Shimon Reif, Orly Elpeleg, Anthony Antonellis, Tamar Harel	2018	16
7	Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease Human Molecular Genetics ·Nikos Malissovas, Laurie B. Griffin, Anthony Antonellis, Dimitris Beis	2016	15
8	Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2 Human Molecular Genetics ·Megan H. Brewer, Ki H., Gary W. Beecham, Chetna Gopinath, Frank Baas, Byung‐Ok Choi, Mary M. Reilly, Michael E. Shy, Stephan Züchner, John Svaren, Anthony Antonellis, Chani J. Hodonsky, Richard H. Quarles, Kurt Fischbeck, Jim R. Lupski, Ken Inoue, Michael Wegner, Pavel Seeman, Kurt Fischbeck	2014	20
9	To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations Current Opinion in Genetics & Development ·Rachel C Wallen, Anthony Antonellis	2013	26
10	SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter Molecular and Cellular Neuroscience ·Chani J. Hodonsky, Erica L. Kleinbrink, Kira N. Charney, Megana Prasad, Seneca L. Bessling, Erin A. Jones, Rajini Srinivasan, John Svaren, Andrew S. McCallion, Anthony Antonellis	2011	13
11	Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels PLoS Genetics ·William W. Motley, Kevin L. Seburn, Mir Hussain Nawaz, Kathy E. Miers, Jun Cheng, Anthony Antonellis, Eric D. Green, Kevin Talbot, Xiang‐Lei Yang, Kenneth H. Fischbeck, Robert W. Burgess	2011	95
12	A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N) Human Mutation ·Heather M. McLaughlin, Reiko Sakaguchi, William Giblin, Thomas E. Wilson, Leslie G. Biesecker, James R. Lupski, Kevin Talbot, Jeffery M. Vance, Stephan Züchner, Yi‐Chung Lee, Marina Kennerson, Ya‐Ming Hou, Garth A. Nicholson, Anthony Antonellis	2011	83
13	A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity In Vitro and In Vivo PLoS ONE ·Anthony Antonellis, Megan Y. Dennis, Grzegorz Burzynski, Jimmy Huynh, Valerie V. Maduro, Chani J. Hodonsky, Mehrdad Khajavi, Kinga Szigeti, Sandeep Mukkamala, Seneca L. Bessling, (unknown), William J. Pavan, Andrew S. McCallion, James R. Lupski, Eric D. Green	2010	14
14	An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations Molecular and Cellular Neuroscience ·Morgane Stum, Heather M. McLaughlin, Erica L. Kleinbrink, Kathy E. Miers, Susan L. Ackerman, Kevin L. Seburn, Anthony Antonellis, Robert W. Burgess	2010	57
15	Oligodendroglial and pan‐neural crest expression of Cre recombinase directed by Sox10 enhancer genesis ·Zachary E. Stine, Jimmy Huynh, Stacie K. Loftus, David U. Gorkin, Amirali Salmasi, Thomas E. Novak, J. Todd Purves, Ronald Miller, Anthony Antonellis, John P. Gearhart, William J. Pavan, Andrew S. McCallion	2009	24
16	Gpnmb is a melanoblast‐expressed, MITF‐dependent gene Pigment Cell & Melanoma Research ·Stacie K. Loftus, Anthony Antonellis, Ivana Matera, Gabriel Renaud, Laura L. Baxter, Duncan Reid, Tyra G. Wolfsberg, Yidong Chen, Chenwei Wang, (unknown), Megana Prasad, Seneca L. Bessling, Andrew S. McCallion, Eric D. Green, Dorothy C. Bennett, William J. Pavan	2008	59
17	An evolutionarily conserved intronic region controls the spatiotemporal expression of the transcription factor Sox10 BMC Developmental Biology ·James R. Dutton, Anthony Antonellis, Thomas J. Carney, Frederico S. L. M. Rodrigues, William J. Pavan, Andrew Ward, Robert N. Kelsh	2008	88
18	Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons Journal of Neuroscience ·Anthony Antonellis, Shih-Queen Lee-Lin, Amy S. Wasterlain, Paul Leo, Martha Quezado, Lev G. Goldfarb, Kyungjae Myung, Shawn M. Burgess, Kenneth H. Fischbeck, Eric D. Green	2006	102
19	Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation American Journal of Medical Genetics ·Amos Etzioni, Laura Sturla, Anthony Antonellis, Eric D. Green, Ruth Gershoni‐Baruch, Patricia Berninsone, Carlos B. Hirschberg, Michela Tonetti	2002	57
20	Aldose reductase gene polymorphisms and susceptibility to diabetic nephropathy in Type 1 diabetes mellitus Diabetic Medicine ·Dariusz Moczulski, Laura J. Scott, Anthony Antonellis, John Rogus, Stephen S. Rich, James H. Warram, A S Krolewski	2000	58

About Anthony Antonellis

Anthony Antonellis is a scholar working on Cellular and Molecular Neuroscience, Neurology, Molecular Biology, Cell Biology and Genetics, having authored 75 papers that have together received 3.8k indexed citations. Recurring topics across this work include RNA Research and Splicing (32 papers), RNA and protein synthesis mechanisms (31 papers), Hereditary Neurological Disorders (26 papers), RNA modifications and cancer (17 papers), RNA regulation and disease (10 papers), Neurological diseases and metabolism (8 papers), Pancreatic function and diabetes (6 papers) and Neurogenetic and Muscular Disorders Research (6 papers). The work is most often cited by research in Cellular and Molecular Neuroscience (931 citations), Neurology (324 citations), Molecular Biology (2.4k citations), Cell Biology (539 citations) and Genetics (716 citations). Anthony Antonellis has collaborated with scholars based in United States, Australia and United Kingdom. Frequent co-authors include Eric D. Green, James H. Warram, William J. Pavan, Rebecca Meyer‐Schuman, Maciej T. Małecki, Andrzej S. Królewski, Kenneth H. Fischbeck, Alessandro Doria, Ulupi S. Jhala and Mohammed Saad. Their work appears in journals such as Human Molecular Genetics, Human Mutation, Diabetes, BMC Genomics and Diabetic Medicine.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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