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Jamie Marshall


Hu Y, Mohassel P, Donkervoort S, et al., Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation. J Neuromuscul Dis. 2019;6(4):475-483.

Tukiainen T, Villani AC, Yen A, et al. Landscape of X chromosome inactivation across human tissues. Nature. 2017 Oct 11;550(7675):244-248.

Cummings BB, Marshall JL, Tukiainen T, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med.2017;9(386).

Jamie Marshall, Ph.D.

Jamie Marshall is a senior group leader in the Kidney Disease Initiative, working under the direction of Anna Greka and Fei Chen. Marshall leads the Greka lab's efforts to develop the kidney cell atlas as part of the Human Cell Atlas and apply various methods for spatial transcriptomics in the kidney across health and disease.

Prior to this role, Marshall led the MacArthur lab’s wetlab efforts to develop in vitro models of severe genetic diseases for functional validation of novel suspected disease-causing variants. Marshall also led efforts for functional validation of reported disease-causing genetic variants or suspected pathologic variants in disease genes found in relatively healthy whole genome/exome sequencing subjects from the gnomAD database.

Before joining the Broad Institute in December 2014, Marshall completed two 18-month-long postdocs — the first in the Rachelle Crosbie-Watson lab at the University of California at Los Angeles (UCLA) studying the mechanisms of sarcospan-mediated amelioration of muscular dystrophy, and the second at Boston Children's Hospital in Louis Kunkel's lab studying heme oxygenase and PDE inhibitors as therapeutic strategies for Duchenne muscular dystrophy.

Marshall holds a Ph.D. in molecular, cellular, and integrative physiology and a B.S. in biology, both earned at UCLA.

Contact Jamie Marshall via email at

January 2020