Jacob Kitzman, PhD
Associate Professor of Human Genetics
Associate Professor of Computational Medicine and Bioinformatics
[email protected]

Available to mentor
Jacob Kitzman, PhD
Associate Professor
  • Qualifications
  • Center Memberships
  • Recent Publications
    • Qualifications
    • PhD
      University of Washington, Seattle, 2014
    • MSE
      Massachusetts Institute of Technology, Cambridge, 2006
    • BS
      Massachusetts Institute of Technology, Cambridge, 2004
    Center Memberships
    • Center Member
      Precision Health Initiative
    • Center Member
      Samuel and Jean Frankel Cardiovascular Center
    Recent Publications See All Publications
    • Journal Article
      A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.
      Young CL, Beichman AC, Mas-Ponte D, Hemker SL, Zhu L, Kitzman JO, Shirts BH, Harris K. Genetics, 2024 Oct 15; DOI:10.1093/genetics/iyae166
      PMID: 39403956
    • Preprint
      A maternal germline mutator phenotype in a family affected by heritable colorectal cancer.
      Young CL, Beichman AC, Mas-Ponte D, Hemker SL, Zhu L, Kitzman JO, Shirts BH, Harris K. 2024 Oct 4; DOI:10.1101/2023.12.08.23299304
      PMID: 38196581
    • Journal Article
      Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes.
      Moldovan JB, Kopera HC, Liu Y, Garcia-Canadas M, Catalina P, Leone PE, Sanchez L, Kitzman JO, Kidd JM, Garcia-Perez JL, Moran JV. Nucleic Acids Res, 2024 Jul 22; 52 (13): 7761 - 7779. DOI:10.1093/nar/gkae448
      PMID: 38850156
    • Preprint
      Variable patterns of retrotransposition in different HeLa strains provide mechanistic insights into SINE RNA mobilization processes.
      Moldovan JB, Kopera HC, Liu Y, Garcia-Canadas M, Catalina P, Leone PE, Sanchez L, Kitzman JO, Kidd JM, Garcia-Perez JL, Moran JV. 2024 May 3; DOI:10.1101/2024.05.03.592410
      PMID: 38746229
    • Journal Article
      Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
      Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Genet Med, 2024 May; 26 (5): 101097 DOI:10.1016/j.gim.2024.101097
      PMID: 38334070
    • Preprint
      Population-scale skeletal muscle single-nucleus multi-omic profiling reveals extensive context specific genetic regulation.
      Varshney A, Manickam N, Orchard P, Tovar A, Zhang Z, Feng F, Erdos MR, Narisu N, Ventresca C, Nishino K, Rai V, Stringham HM, Jackson AU, Tamsen T, Gao C, Yang M, Koues OI, Welch JD, Burant CF, Williams LK, Jenkinson C, DeFronzo RA, Norton L, Saramies J, Lakka TA, Laakso M, Tuomilehto J, Mohlke KL, Kitzman JO, Koistinen HA, Liu J, Boehnke M, Collins FS, Scott LJ, Parker SCJ. 2023 Dec 15; DOI:10.1101/2023.12.15.571696
      PMID: 38168419
    • Journal Article
      Benchmarking splice variant prediction algorithms using massively parallel splicing assays.
      Smith C, Kitzman JO. Genome Biol, 2023 Dec 21; 24 (1): 294 DOI:10.1186/s13059-023-03144-z
      PMID: 38129864
    • Preprint
      Using a modular massively parallel reporter assay to discover context-specific regulatory grammars in type 2 diabetes
      Tovar A, Kyono Y, Nishino K, Bose M, Varshney A, Parker SCJ, Kitzman J. 2023 bioRxiv, DOI:10.1101/2023.10.08.561391
    Featured News & Stories Photo portrait of Adelaide Tovar, PhD
    Department News
    Adelaide Tovar, Ph.D., received a MOSAIC K99/R00 Award from the NIH/NHGRI
    Adelaide Tovar, Ph.D., was awarded an NIH Maximizing Opportunities for Scientific and Academic Independent Careers (MOSAIC) K99/R00, a specialized career transition program intended for postdocs who are from underrepresented backgrounds and/or have demonstrated a commitment to increasing inclusivity and equity in the scientific workforce.
    Department News
    Highlighted Publications - July 2024
    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
    Department News
    Highlighted Publications - May 2024
    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
    Department News
    Highlighted Publications - June 2024
    Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics.
         DCMB Cathy Smith
    Department News
    Meet Cathy Smith, PhD candidate in Jacob Kitzman's lab
    Meet Cathy Smith, a PhD candidate in Jacob Kitzman's lab