Andrew Marderstein

Andrew Marderstein

Research Fellow in the Clinical Genetics Service at Memorial Sloan Kettering Cancer Center.

Publications

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

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

Published / Accepted

  1. Marderstein, A.R., Montgomery, S.B. (2026). Non-coding variant prioritization based on cell type, developmental stage, and evolutionary constraint. Nature Genetics. DOI: 10.1038/s41588-026-02618-7. (Research Briefing)

  2. Marderstein, A.R.^, Kundu, S.^, …., Kundaje, A.^, Montgomery, S.B.^ (2026). Decoding common and rare non-coding variant effects across cellular and developmental contexts. Nature Genetics. DOI: https://doi.org/10.1038/s41588-026-02619-6

  3. Uppal, M., Bhinder, B., Marderstein, A.R., …, Salles, G.^, Joffe, E.^ (2026). Integrative molecular analysis reveals determinants of clinical outcomes in TP53-mutated diffuse large B-cell lymphoma. Journal of Clinical Oncology. DOI: 10.1200/JCO-25-01928

  4. Rubenstein, A.B., Smith, G.R., Zhang, Z., …, Marderstein, A.R., Montgomery, S.B., …, Trappe, S.^, Sealfon, S.C.^ (2025). Integrated single-cell multiome analysis reveals muscle fiber-type gene regulatory circuitry modulated by endurance exercise. Genome Research. DOI: 10.1101/gr.280051.124

  5. Coorens, T.H.H., et al., the dGTEx Consortium (2025). The human and non-human primate developmental GTEx projects. Nature. 637, 557–564 (2025). https://doi.org/10.1038/s41586-024-08244-9

  6. 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 fetal blood in Down’s Syndrome. Nature 634, 104-112. DOI: https://doi.org/10.1038/s41586-024-07946-4

    Nature News & Views: “Childhood leukaemia in Down’s syndrome primed by blood-cell bias”
    Nature Podcast: “Children with Down’s Syndrome are more likely to get leukaemia: stem cells hint at why”

  7. 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

  8. 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.

  9. 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”

  10. 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”

  11. 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”

  12. 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

  13. 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

  14. 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.

Under Review / In Revision / In Preparation

  1. Marderstein, A.R.^, Hunt, G.^, Padhi, E.M.^, …., Cvejic, A.* Trisomy 18 and 21 disrupt lineage-specific regulatory networks in foetal haematopoiesis. (In revision)
  2. Niu, Y., Fansler, M., Chen, W, …, Marderstein, A.R.,…, Cvejic, A. The epigenetic and transcriptomic blueprint of human foetal liver haematopoiesis across development. (In revision at Nature)
  3. Amsalem, J., Ostrovnaya, I., Marderstein, A.R., …, Offit, K., Joseph, V. Integrated Clinicogenomic Risk Modeling for Metachronous Second Primary Cancers. (Under review at Nature Communications). Preprint on medRxiv. DOI: https://doi.org/10.64898/2026.06.12.26355388
  4. The ENCODE Project Consortium. The Encyclopedia of DNA Elements. (Under review at Nature)
  5. Perea-Chamblee, T.^, Sun. H.^, …, Marderstein, A.R., …, Gusev, A., Carrot-Zhang, J.. Multi-ancestral real-world data reveals germline determinants of somatic drivers and cancer progression. (In revision)
  6. 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)
  7. Krishna, C., Walker, R.L., Marderstein, A.R., …, Xavier, R.J. Immunogenetic control of gene expression and cell state. (In revision)
  8. 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)
  9. Liu, J., …, Marderstein, A.R., …, Natarajan, P., Offit, K., Bolton, K.L. Characterization of the Cancer Spectrum across 92,384 Germline Cancer Predisposition Carriers. (In prep, July ‘26)
  10. Padhi, E., …, Marderstein, A.R, …, Lennon, N., Montgomery, S.B. Multi-omics in 10,000 diverse individuals expands mapping genetic mechanisms in health and disease. (In prep, August ‘26)
  11. Marderstein, A.R.^, Banaszak, L.^, Shin, N.Y.^, …, Offit, K., Cantor, A.B. Clinical and mechanistic dissection of non-coding variants in the ANKRD26 5’UTR using deep learning. (ASHG Abstract ‘26; In prep)
  12. Keshavjee, S.^, Marderstein, A.R.^, …, Carrot-Zhang, J., Stadler, Z., Abass, M.A. Polygenic Risk Score Contribution to Colorectal Cancer Risk in Lynch Syndrome. (CGA-IGC Abstract ‘26; In prep)

Legend: Schematic image from Marderstein et al. (2021). Demographic and genetic factors influence the abundance of infiltrating immune cells in human tissues. Nature Communications.