Author

Yevgeniya A. Abramzon

National Institutes of Health

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ruth ChiaiD· 3 shared Sarah AhmediD· 3 shared Adriano ChiòiD· 2 shared Andrea CalvoiD· 2 shared Bryan J. TraynoriD· 2 shared Gabriele MoraiD· 2 shared Jinhui DingiD· 2 shared John E. LandersiD· 2 shared

Activity by Year

2020-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Ruth ChiaORCID

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Author profile →

3 papers

Recent·Most cited

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types.

Sara Sáez-Atiénzar, Sara Bandrés‐Ciga, Rebekah G. Langston, Jonggeol Jeffrey Kim, Shing Wan Choi, Regina Hertfelder Reynolds, ITALSGEN, Yevgeniya A. Abramzon, Ramita Dewan, Sarah Ahmed, John E. Landers, Ruth Chia, Mina Ryten, Mark R. Cookson, Mike A. Nalls, , Bryan J. Traynor

This paper identifies genetic pathways and cell types involved in ALS using polygenic risk scores and Mendelian randomization, finding convergence on specific biological processes and cell types.

Science Advances · Jan 15, 2021Peer-reviewedGenetics

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

Ruth Chia, Marya S. Sabir, Sara Bandrés‐Ciga, Sara Sáez-Atiénzar, Regina Hertfelder Reynolds, Emil Karl Gustavsson, Ronald L. Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding, Mary B. Makarious, Mónica Díez-Fairén, Makayla K. Portley, Zalak Shah, Yevgeniya A. Abramzon, , Thomas G. Beach

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

bioRxiv · Jul 6, 2020 · PreprintGenomics

Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

Janel O. Johnson, Ruth Chia, Danny E. Miller, Rong Li, Yevgeniya A. Abramzon, Ravindran Kumaran, Nada F. Alahmady, Faraz Faghri, Alan Edward Renton, Simon D. Topp, Hannah A. Pliner, Jesse Raphael Gibbs, Jinhui Ding, N. Smith, Natalie Landeck, , Bryan J. Traynor

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

bioRxiv · Jun 29, 2020 · PreprintGenetics