I’m a research fellow at Massachusetts General Hospital and the Broad Institute, advised by Daniel MacArthur. I graduated with a PhD from the Biomedical Informatics training program at Stanford University, advised by Mike Snyder and co-advised by Stephen Montgomery, and my undergraduate was in Molecular Biology from Princeton University, specializing in Quantitative and Computational Biology (advisor: Amy Caudy). I am the co-author of Exploring Personal Genomics, the first inquiry-based guide to understanding and interpreting a personal genome, available from Amazon.

You can find my CV here.

RSS Recent Publications

  • Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG