Publications

You can also view my updated list of publications using Google Scholar or PubMed.

(^ = co-first or co-corresponding authors)

Under Review/In Revision:

  1. Rubenstein, A.B., Smith, G.R., Zhang, Z., …, Marderstein, A.R., Montgomery, S.B., …, Trappe, S.^, Sealfon, S.C.^. Integrated single-cell multiome analysis reveals muscle fiber-type gene regulatory circuitry modulated by endurance exercise. Preprint on bioRxiv. doi: 10.1101/2023.09.26.558914 (Under review at Cell Reports Medicine)

  2. Kulm, S., Marderstein, A.R., Mezey, J.^, Elemento, O.^ A systematic framework for assessing the clinical impact of polygenic risk scores. Preprint on medRxiv. doi: https://doi.org/10.1101/2020.04.06.20055574 (In revision)

  3. Krishna, C., Walker, R.L., Marderstein, A.R., Brown, E.M., Deguine, J., Graham, D.B., Xavier, R.J. Immunogenetic control of gene expression and cell state. (In revision)

  4. Kong, Y., Harrington, D., Marderstein, A.R., Alonso, L.C. Low frequency T2D-associated polymorphisms at CCND2 influence CCND2 mRNA abundance, but not proliferation, in human pancreatic islets. (In revision)

Published/Accepted:

  1. Marderstein, A.R., De Zuani, M., Moeller, R., Bezney, J., Padhi, E., Wong, S., Coorens, T.H.H., Xie. Y., Xue, H., Montgomery, S.B.^, Cvejic, A^ (2024). Single-cell multi-omics map of human foetal blood in Down’s Syndrome. Preprint on bioRxiv. doi: https://doi.org/10.1101/2023.09.25.559431 (In press at Nature)

  2. IGVF Consortium (2024). Deciphering the impact of genomic variation on function. Nature 633, 47–57. doi: https://doi.org/10.1038/s41586-024-07510-0

  3. Lima, S., Rupert, A., Putzel, G., Marderstein, A.R., Woo, V., Viladomiu, M., Metz, M., Scherl, E., Longman, R. (2024). The gut microbiome regulates the clinical efficacy of sulfasalazine therapy for IBD-associated spondyloarthritis. Cell Reports Medicine. doi: https://doi.org/10.1016/j.xcrm.2024.101431.

  4. Shah, Y.^, Verma, A.^, Marderstein, A.R., White, J., Bhinder, B., Medica, J.S.G., Elemento, O (2021). Pan-cancer analysis reveals molecular patterns associated with age. Cell Reports 37, 110100. doi: https://doi.org/10.1016/j.celrep.2021.110100.

    Precision Oncology News: “Pan-Cancer Analysis Reveals Unique Features in Tumors From Younger People”

  5. Marderstein, A.R., Kulm, S., Peng, C., Tamimi, R.M., Clark, A.G.^, Elemento, O.^ (2021). A polygenic score-based approach for identification of gene-drug interactions stratifying breast cancer risk. The American Journal of Human Genetics 108 (9), 1752-1764. doi: 10.1016/j.ajhg.2021.07.008.

    GenomeWeb: “Breast Cancer Genetic Risk Modified by Corticosteroid Use”

  6. Marderstein, A.R., Davenport, E.R., Van Hout, C.V., Kulm, S., Elemento, O.^, Clark, A.G.^ (2021). Leveraging phenotypic variability to identify genetic interactions in human phenotypes. American Journal of Human Genetics 108 (1), 1-19. doi: https://doi.org/10.1016/j.ajhg.2020.11.016

    Cornell Chronicle: “Cross-campus team probes gene-environment interactions”
    Weill Cornell Newsroom: “Researchers simplify the study of gene-environment interactions”

  7. Marderstein, A.R., Uppal, M., Verma, A., Bhinder, B., Tayyebi, Z., Mezey, J., Clark, A.G.^, Elemento, O.^ (2020). Demographic and genetic factors influence the abundance of infiltrating immune cells in human tissues. Nature Communications 11, 2213. doi: https://doi.org/10.1038/s41467-020-16097-9

  8. Castellanos, J.G., Woo, V., Viladomiu, M., Putzel, G., Lima, S., Diehl, G.E., Marderstein, A.R., Gandara, J., Perez, A.R., Withers, D.R., Targan, S.R., Shih, D.Q., Scherl, E.J., Longman, R.S. (2018). Microbiota-induced TNF-like ligand 1A drives Group 3 innate lymphoid cell-mediated barrier protection and intestinal T cell activation during colitis. Immunity 49(6):1077-1089.e5. doi: 10.1016/j.immuni.2018.10.014

  9. Marderstein, A.R. (2017). Approximate Bayesian Computation for Studying Selective Sweep Signatures in Local Coalescence Trees. Honors Thesis, College of Agriculture and Life Sciences, Cornell University. Supervisor: Philipp Messer.