Anthony Antonellis
James V Neel Legacy Professor of Human Genetics
Professor of Human Genetics
Chair, Department of Human Genetics
Professor of Neurology
Medical School
[email protected]
Available to mentor
Anthony Antonellis
Professor
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Qualifications
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Post-doctoral FellowNational Institutes of Health, National Human Genome Research Institute, Bethesda, United States
2004 - 2008
Postdoctoral Fellowship
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PhDNational Institutes of Health and George Washington University, Washington, D.C., United States
2000 - 2004
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BSUniversity of Massachusetts, Amherst, Massachusetts, United States
1989 - 1992
Center Memberships
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Center MemberCenter for Global Health Equity
Research Overview
Our group is broadly interested in how human genetic variation affects gene and genome function. One area of research is grounded in the observation that mutations in aminoacyl-tRNA synthetases cause myriad disease phenotypes including dominant axonal neuropathy and recessive syndromes that include neurodevelopmental defects. A second area of research aims to study how gene regulation—via cis-acting transcriptional regulatory elements including enhancers and promoters—plays a role in the development of myelinating Schwann cells of the peripheral nervous system. We are always looking for outstanding students and post-doctoral fellows to advance each of these areas.
Please visit www.sequenceman.com for a description of projects in our laboratory.
Links
Antonellis Lab
Recent Publications
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Del Greco C, Figueroa SML, Antonellis A. Dis Model Mech, 2026 Jun 1;Journal ArticleMultiple mechanisms lead to loss-of-function effects of SARS2 variants: implications for genotype-phenotype analyses.
DOI:10.1242/dmm.052690 PMID: 42220212 -
Peeples SM, Blake K, Sutton BLM, Konyukh M, Züchner S, Stojkovic T, Baets J, Antonellis A. Human Genetics and Genomics Advances, 2026 Jan 15; 7 (1):Journal ArticleAsparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
DOI:10.1016/j.xhgg.2025.100519 PMID: 40968538 -
Kuo ME, Jonatzke KE, Parish M, Antonellis A. Dmm Disease Models and Mechanisms, 2025 Jun 1; 18 (6):Journal ArticleRecessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects
DOI:10.1242/dmm.052006 PMID: 40491354 -
Wongkittichote P, Jonatzke KE, Hyde BT, Peterson LW, He M, McKinstry RC, Antonellis A, Shinawi M. Jimd Reports, 2025 May 1; 66 (3):Journal ArticleAtypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype
DOI:10.1002/jmd2.70020 -
Del Greco C, Kuo ME, Smith DEC, Mendes MI, Salamons GS, Nemcovic M, Kodrikova R, Sestak S, Stancheva M, Antonellis A. Molecular Genetics and Genomic Medicine, 2025 Feb 1; 13 (2):Journal ArticleLoss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
DOI:10.1002/mgg3.70078 PMID: 39963003 -
Meyer-Schuman R, Cale AR, Pierluissi JA, Jonatzke KE, Park YN, Lenk GM, Oprescu SN, Grachtchouk MA, Dlugosz AA, Beg AA, Meisler MH, Antonellis A. Human Genetics and Genomics Advances, 2024 Jul 18; 5 (3):Journal ArticleA model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants
DOI:10.1016/j.xhgg.2024.100324 PMID: 38956874 -
Kuo ME, Parish M, Jonatzke KE, Antonellis A. 2024 Jun 24;PreprintComprehensive assessment of recessive, pathogenic AARS1 alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects.
DOI:10.1101/2024.06.20.599900 PMID: 38979321 -
Theuriet J, Marte S, Isapof A, de Becdelièvre A, Konyukh M, Laureano-Figueroa SM, Latour P, Quadrio I, Maisonobe T, Antonellis A, Stojkovic T. Journal of the Peripheral Nervous System, 2024 Jun 1; 29 (2): 275 - 278.Journal ArticleA previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family
DOI:10.1111/jns.12635 PMID: 38769024
Featured News & Stories
Department News
Highlighted Publications: January - May 2026
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
News Release
15 U-M faculty named as 2025 AAAS fellows
Four U-M faculty with appointments in the Medical School have been elected fellows of the American Association for the Advancement of Science
Department News
Highlighted Publications - July 2024
Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
